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JAMES LUPSKI

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
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    Other Positions
    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Pediatrics
    DivisionPediatrics-Administration


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    U01HG011758     (POSEY, JENNIFER ELLEN)Jul 15, 2021 - Apr 30, 2026
    NIH
    Baylor College of Medicine - Mendelian Genomics Research Center (BCM-MGRC)
    Role: Co-Principal Investigator
    R35NS105078     (LUPSKI, JAMES R.)Dec 15, 2017 - Nov 30, 2025
    NIH
    STRUCTURAL VARIATION IN NEUROLOGICAL DISEASE
    Role: Principal Investigator
    R01GM106373     (HASTINGS, PHILIP J ;LUPSKI, JAMES R.)Sep 5, 2014 - Feb 29, 2024
    NIH
    MUTATIONAL SIGNATURE(S) OF HUMAN GENOMIC REARRANGEMENT MECHANISMS
    Role: Co-Principal Investigator
    R01NS058529     (LUPSKI, JAMES R.)Apr 1, 2007 - Jul 31, 2018
    NIH
    COMPLEX GENOMIC REARRANGEMENTS IN NEUROLOGICAL DISEASE
    Role: Principal Investigator
    R03TW007536     (LUPSKI, JAMES R.)Apr 15, 2006 - Feb 28, 2009
    NIH
    Exploring the Reversibilty of the Smith-Magenis Syndrome Phenotype
    Role: Principal Investigator
    R01DE015210     (LUPSKI, JAMES R.)May 1, 2003 - Apr 30, 2008
    NIH
    Molecular basis of the craniofacial anomalies in SMS
    Role: Principal Investigator
    R01EY013255     (LUPSKI, JAMES R.)Sep 5, 2002 - Aug 31, 2007
    NIH
    ABCR, Macular Dystrophies and Degeneration
    Role: Principal Investigator
    P01HD039420     (LUPSKI, JAMES R.)Jul 1, 2000 - May 31, 2007
    NIH
    Chromosome Rearrangements and Mental Retardation
    Role: Principal Investigator
    R01EY011780     (BEJJANI, BASSEM A)Apr 1, 1997 - Nov 30, 2006
    NIH
    A GENETIC APPROACH TO THE ROLE OF CYP1B1 IN PCG
    Role: Co-Principal Investigator
    R01NS027042     (LUPSKI, JAMES R.)Jan 1, 1990 - Dec 31, 2005
    NIH
    CMT Peripheral Neuropathy: IV. Genes and Pathogenesis
    Role: Principal Investigator
    T32EY007102     (MARDON, GRAEME)Sep 30, 1988 - Feb 28, 2021
    NIH
    MOLECULAR GENETICS EMPHASIZING VISION RESEARCH
    Role: Co-Principal Investigator
    T32GM007330     (PLON, SHARON E.)Jul 1, 1977 - Jun 30, 2020
    NIH
    Medical Scientist Training Program
    Role: Co-Principal Investigator

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Barish S, Lin SJ, Maroofian R, Gezdirici A, Alhebby H, Trimouille A, Biderman Waberski M, Mitani T, Huber I, Tveten K, Holla ?L, Busk ?L, Houlden H, Ghayoor Karimiani E, Beiraghi Toosi M, Shervin Badv R, Najarzadeh Torbati P, Eghbal F, Akhondian J, Al Safar A, Alswaid A, Zifarelli G, Bauer P, Marafi D, Fatih JM, Huang K, Petree C, Calame DG, von der Lippe C, Alkuraya FS, Wali S, Lupski JR, Varshney GK, Posey JE, Pehlivan D. Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. Am J Hum Genet. 2024 Nov 07; 111(11):2566-2581. PMID: 39471804.
      Citations:    Fields:    
    2. Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid MS, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Begtrup A, Elloumi H, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Oberg KC, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Mardi A, Hashemi-Gorji F, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN, Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Bahreini A, Karimiani EG, Begtrup A, Elloumi H, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Rosenfeld JA, Ramanathan S, Staton M, Oberg KC, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Maroofian R, Lupski JR, Nguyen LN. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2024 Sep 19; 101273. PMID: 39306721.
      Citations:    Fields:    
    3. Daly AF, Dunnington LA, Rodriguez-Buritica DF, Spiegel E, Brancati F, Mantovani G, Rawal VM, Faucz FR, Hijazi H, Caberg JH, Nardone AM, Bengala M, Fortugno P, Del Sindaco G, Ragonese M, Gould H, Cannav? S, P?trossians P, Lania A, Lupski JR, Beckers A, Stratakis CA, Levy B, Trivellin G, Franke M. Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus. Genome Med. 2024 Sep 13; 16(1):112. PMID: 39272130; PMCID: PMC11396275.
      Citations:    Fields:    Translation:HumansCells
    4. Dardas Z, Marafi D, Duan R, Fatih JM, El-Rashidy OF, Grochowski CM, Carvalho CMB, Jhangiani SN, Bi W, Du H, Gibbs RA, Posey JE, Calame DG, Zaki MS, Lupski JR. Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. Eur J Hum Genet. 2024 Sep 10. PMID: 39256534.
      Citations:    Fields:    
    5. Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Nejad-Rashidi A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer MZ, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Maia ER, Mansoor S, Vivek J, Tawde S, Santhosh R Challa V, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, Ei-Awady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Javed I, Carr L, Kanani F, Beecroft F, Hane L, Abdelkreem E, Macek M, Bispo L, Elmaksoud MA, Hashemi-Gorji F, Pehlivan D, Amor DJ, Jamra RA, Chung WK, Ghayoor EK, Campeau P, Alkuraya FS, Pagnamenta AT, Gleeson J, Lupski JR, Striano P, Moreno-De-Luca A, Lafontaine DLJ, Houlden H, Maroofian R. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2024 Sep 10; 101251. PMID: 39275948.
      Citations:    Fields:    
    6. Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, L?vesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame DG, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfu? S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga DM, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillmann RC, Srinivasan VM, Torbati PN, Tos T, Undiagnosed Diseases Network, Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nat Commun. 2024 Aug 22; 15(1):7239. PMID: 39174524; PMCID: PMC11341845.
      Citations:    Fields:    Translation:HumansAnimalsCells
    7. Nieto-Patl?n A, Fern?ndez D?vila NS, Wang Y, Zelnick M, Muscal E, Curry M, Lupski JR, Holland SM, Yuan B, Kuhns DB, Vogel TP, Chinn IK. Case Report: p40 phox deficiency underlying pediatric-onset systemic lupus erythematosus. Front Pediatr. 2024; 12:1425874. PMID: 39228435; PMCID: PMC11368735.
      Citations:    
    8. Bozkurt-Yozgatli T, Pehlivan D, Gibbs RA, Sezerman U, Posey JE, Lupski JR, Coban-Akdemir Z. Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders. BMC Med Genomics. 2024 Aug 07; 17(1):201. PMID: 39113026; PMCID: PMC11308470.
      Citations:    Fields:    
    9. Potter AS, Miyake CY, Gonzaga-Jauregui C, Aguilar-Sanchez Y, Hulsurkar MM, Lahiri SK, Moreira LM, Mehta N, Azamian M, Lupski JR, Reilly S, Lalani SR, Wehrens XHT, Potter AS, Azamian MS. Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. Circ Genom Precis Med. 2024 Aug; 17(4):e004614. PMID: 38953222; PMCID: PMC11335451.
      Citations:    Fields:    Translation:HumansAnimals
    10. Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, H?ps W, Benito E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Hwang JP, Bhamidipati SV, Muzny DM, Fatih JM, Gibbs RA, Pendleton M, Harrington E, Juul S, Lindstrand A, Sedlazeck FJ, Pehlivan D, Lupski JR, Carvalho CMB. Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. Cell Genom. 2024 Jul 10; 4(7):100590. PMID: 38908378; PMCID: PMC11293582.
      Citations:    Fields:    Translation:Humans
    11. Deb W, Rosenfelt C, Vignard V, Papendorf JJ, M?ller S, Wendlandt M, Studencka-Turski M, Cogn? B, Besnard T, Ruffier L, Toutain B, Poirier L, Cuinat S, Kritzer A, Crunk A, diMonda J, Vengoechea J, Mercier S, Kleinendorst L, van Haelst MM, Zuurbier L, Sulem T, Katr?nard?ttir H, Fri?riksd?ttir R, Sulem P, Stefansson K, Jonsdottir B, Zeidler S, Sinnema M, Stegmann APA, Naveh N, Skraban CM, Gray C, Murrell JR, Isikay S, Pehlivan D, Calame DG, Posey JE, Nizon M, McWalter K, Lupski JR, Isidor B, Bolduc FV, B?zieau S, Kr?ger E, K?ry S, Ebstein F. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am J Hum Genet. 2024 07 11; 111(7):1352-1369. PMID: 38866022; PMCID: PMC11267520.
      Citations:    Fields:    Translation:HumansAnimals
    12. Bassani S, Chrast J, Ambrosini G, Voisin N, Sch?tz F, Brusco A, Sirchia F, Turban L, Schubert S, Abou Jamra R, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen G?M, Smeland MF, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, McCormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanp?? MK, Pohjola P, Arikka H, Kievit AJA, Calandrini C, Iseli C, Guex N, Reymond A. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Med. 2024 05 30; 16(1):72. PMID: 38811945; PMCID: PMC11137988.
      Citations:    Fields:    Translation:HumansAnimalsCells
    13. Copeland I, Wonkam-Tingang E, Gupta-Malhotra M, Hashmi SS, Han Y, Jajoo A, Hall NJ, Hernandez PP, Lie N, Liu D, Xu J, Rosenfeld J, Haldipur A, Desire Z, Coban-Akdemir ZH, Scott DA, Li Q, Chao HT, Zaske AM, Lupski JR, Milewicz DM, Shete S, Posey JE, Hanchard NA. Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension. JCI Insight. 2024 May 08; 9(9). PMID: 38716726; PMCID: PMC11141928.
      Citations:    Fields:    Translation:Humans
    14. Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. J Exp Med. 2024 Jun 03; 221(6). PMID: 38709237; PMCID: PMC11075643.
      Citations:    Fields:    
    15. Feng X, Ye Y, Zhang J, Zhang Y, Zhao S, Mak JCW, Otomo N, Zhao Z, Niu Y, Yonezawa Y, Li G, Lin M, Li X, Cheung PWH, Xu K, Takeda K, Wang S, Xie J, Kotani T, Choi VNT, Song YQ, Yang Y, Luk KDK, Lee KS, Li Z, Li PS, Leung CYH, Lin X, Wang X, Qiu G, DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) study group, Watanabe K, Japanese Early Onset Scoliosis Research Group, Wu Z, Posey JE, Ikegawa S, Lupski JR, Cheung JPY, Zhang TJ, Gao B, Wu N. Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations. Proc Natl Acad Sci U S A. 2024 Apr 30; 121(18):e2310283121. PMID: 38669183; PMCID: PMC11067467.
      Citations:    Fields:    Translation:HumansAnimalsCells
    16. Bozkurt-Yozgatli T, Pehlivan D, Gibbs RA, Sezerman U, Posey JE, Lupski JR, Coban-Akdemir Z. Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders. BMC Med Genomics. 2024 Apr 16; 17(1):85. PMID: 38622594; PMCID: PMC11020671.
      Citations: 1     Fields:    Translation:Humans
    17. Dawood M, Fayer S, Pendyala S, Post M, Kalra D, Patterson K, Venner E, Muffley LA, Fowler DM, Rubin AF, Posey JE, Plon SE, Lupski JR, Gibbs RA, Starita LM, Robles-Espinoza CD, Coyote-Maestas W, Gallego Romero I. Defining and Reducing Variant Classification Disparities. medRxiv. 2024 Apr 12. PMID: 38645101; PMCID: PMC11030469.
      Citations:    
    18. Rad A, Shotelersuk V, Yeetong P, Najafi M, Schmidts M, Mahroum M, Vetro A, Guerrini R, Kaiyrzhanov R, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Sch?neborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kort?m F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Louren?o CM, Mitani T, Moldovan O, Murphy D, Pehlivan D, Rocha ME, Salpietro V, Shalata A, Talbeya JK, Taylor RW, Vazquez D, Waterham HR, Zaman M, Schrader TA, Chung WK, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 Apr 04; 147(4):1436-1456. PMID: 37951597; PMCID: PMC10994533.
      Citations:    Fields:    
    19. Dardas Z, Fatih JM, Jolly A, Dawood M, Du H, Grochowski CM, Jones EG, Jhangiani SN, Wehrens XHT, Liu P, Bi W, Boerwinkle E, Posey JE, Muzny DM, Gibbs RA, Lupski JR, Coban-Akdemir Z, Morris SA. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 04 03; 16(1):53. PMID: 38570875; PMCID: PMC10988827.
      Citations: 2     Fields:    Translation:HumansAnimals
    20. Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis. J Exp Med. 2024 Jun 03; 221(6). PMID: 38563820; PMCID: PMC10986756.
      Citations: 2     Fields:    Translation:Humans
    21. Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Galv?n NTN, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ, Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Nguyen Galv?n NT, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 Jul; 26(7):101125. PMID: 38522068; PMCID: PMC11335040.
      Citations:    Fields:    Translation:HumansAnimals
    22. Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endziniene M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R, YWHAG Study Group, Marjanovic D. Clinical and molecular characterization of patients with YWHAG-related epilepsy. Epilepsia. 2024 May; 65(5):1439-1450. PMID: 38491959.
      Citations:    Fields:    Translation:Humans
    23. Reed AE, Peraza J, van den Haak F, Hernandez ER, Gibbs RA, Chinn IK, Lupski JR, Marchi E, Reshef R, Alobeid B, Mace EM, Orange JS. ?-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. J Immunol. 2024 Mar 15; 212(6):962-973. PMID: 38315012; PMCID: PMC11337350.
      Citations:    Fields:    Translation:HumansCells
    24. Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz ?, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A, TUDP consortium, Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ Genom Med. 2024 Mar 01; 9(1):18. PMID: 38429302; PMCID: PMC10907620.
      Citations: 1     
    25. Du H, Dardas Z, Jolly A, Grochowski CM, Jhangiani SN, Li H, Muzny D, Fatih JM, Yesil G, El?ioglu NH, Gezdirici A, Marafi D, Pehlivan D, Calame DG, Carvalho CMB, Posey JE, Gambin T, Coban-Akdemir Z, Lupski JR. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18. PMID: 38153174; PMCID: PMC10899794.
      Citations: 1     Fields:    Translation:Humans
    26. Dardas Z, Marafi D, Duan R, Fatih J, El-Rashidy O, Grochowski C, Jhangiani S, Bi W, Du H, Gibbs R, Lupski J, Carvalho C, Posey J, Calame D, Zaki M. Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32. Res Sq. 2024 Feb 19. PMID: 38464263; PMCID: PMC10925411.
      Citations:    
    27. Almannai M, Marafi D, Zaki MS, Maroofian R, Efthymiou S, Saadi NW, Filimban B, Dafsari HS, Rahman F, Maqbool S, Faqeih E, Al Mutairi F, Alsharhan H, Abdelaty O, Bin-Hasan S, Duan R, Noureldeen MM, Alqattan A, Houlden H, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clin Genet. 2024 Jun; 105(6):620-629. PMID: 38356149; PMCID: PMC11065596.
      Citations:    Fields:    Translation:Humans
    28. Calame DG, Wong JH, Panda P, Nguyen DT, Leong NCP, Sangermano R, Patankar SG, Abdel-Hamid M, AlAbdi L, Safwat S, Flannery KP, Dardas Z, Fatih JM, Murali C, Kannan V, Lotze TE, Herman I, Ammouri F, Rezich B, Efthymiou S, Alavi S, Murphy D, Firoozfar Z, Nasab ME, Bahreini A, Ghasemi M, Haridy NA, Goldouzi HR, Eghbal F, Karimiani EG, Srinivasan VM, Gowda VK, Du H, Jhangiani SN, Coban-Akdemir Z, Marafi D, Rodan L, Isikay S, Rosenfeld JA, Ramanathan S, Staton M, Clark RD, Wenman C, Loughlin S, Saad R, Ashraf T, Male A, Tadros S, Boostani R, Abdel-Salam GMH, Zaki M, Abdalla E, Manzini MC, Pehlivan D, Posey JE, Gibbs RA, Houlden H, Alkuraya FS, Bujakowska K, Maroofian R, Lupski JR, Nguyen LN. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv. 2024 Feb 13. PMID: 38405817; PMCID: PMC10888986.
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    29. Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dun? M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L, Genomics England Research Consortium, K?ry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, N?meth AH, ?stergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 03 07; 111(3):487-508. PMID: 38325380; PMCID: PMC10940019.
      Citations: 3     Fields:    Translation:HumansAnimals
    30. Undiagnosed Diseases Network, Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Levesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame D, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfu? S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga D, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillman RC, Srinivasan VM, Torbati PN, Tos T, Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. medRxiv. 2024 Jan 31. PMID: 38352438; PMCID: PMC10863025.
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    31. Bassani S, Chrast J, Ambrosini G, Voisin N, Sch?tz F, Brusco A, Sirchia F, Turban L, Schubert S, Jamra RA, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen G?M, Falkenberg Smeland M, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, Mccormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanp?? MK, Pohjola P, Arikka H, Iseli C, Guex N, Reymond A. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv. 2024 Jan 17. PMID: 38293053; PMCID: PMC10827271.
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    32. Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Jamra RA, Gabriel H, Rentas S, Rippert AL, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Pehlivan D, Posey JE, Lippa N, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid M, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J. RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. medRxiv. 2024 Jan 09. PMID: 38260255; PMCID: PMC10802637.
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    33. Poli MC, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Mart?n LM, Encina G, B?hme D, Faundes V, Zavala MJ, Hasb?n T, Fischer S, Brito F, Araya D, Lira M, de la Cruz J, Astudillo C, Lay-Son G, Cares C, Aracena M, Martin ES, Coban-Akdemir Z, Posey JE, Lupski JR, Repetto GM. Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile. Eur J Hum Genet. 2024 Oct; 32(10):1227-1237. PMID: 38177409; PMCID: PMC11499817.
      Citations: 5     Fields:    Translation:Humans
    34. Zamani M, Vona B, Sadeghian S, Azizimalamiri R, Mohammadi MH, Zeighami J, Heydaran S, Akhondian J, Babaei M, Hashemi N, Setzke J, Galehdari H, Maroofian R, Kaiyrzhanov R, Liebmann L, Karimiani EG, Huebner AK, Calame DG, Misra VK, Toosi MB, Schnur RE, Suri M, Wagner M, Brunet T, Grochowski CM, Emrick L, Chung WK, Hellmich UA, Schmidts M, Lupski JR, Severino M, Houlden H, H?bner CA. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med. 2024 03; 26(3):101034. PMID: 38054405; PMCID: PMC11157690.
      Citations: 1     Fields:    Translation:HumansAnimals
    35. Zamani M, Tortora D, Sadeghian S, Abdullah U, Al Shamsi AM, Tajsharghi H, Saadi NW, Al Mutairi F, Alabdi L, Ali Z, Rudnik-Sch?neborn S, Babaei M, Isohanni P, Marafi D, Saberi A, Hamid M, Maqbool S, Rahman F, Palculict TB, Al Aqeel AI, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Zschocke J, Schatz UA, Van Esch H, Hackenberg A, Al-Gazali L, Lupski JR, Galehdari H, Azizimalamiri R, Severino M, Maroofian R, Kaiyrzhanov R, Cali E, Zaki MS, Ferla M, Saadi SM, Karimiani EG, Efthymiou S, Yesil G, Alavi S, Abdel-Hamid MS, Beetz C, Toosi MB, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Spaull R, Meng L, Lalani S, Seeger J, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejesk?r K, High FA, Armstrong-Javors AE, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Ghavideldarestani M, Kamel WA, Taylor JC, Bauer P, Gleeson JJ, Alkuraya FS, Chung WK, Baig SM, Houlden H. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain. 2023 12 01; 146(12):5031-5043. PMID: 37517035; PMCID: PMC10690011.
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    36. Bhola PT, Mishra R, Posey JE, Hamilton LE, Graham GE, Punetha J, Care4Rare Canada Consortium, Lupski JR, Boycott KM, D'Amours D, Kernohan KD. Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature. Am J Med Genet A. 2024 03; 194(3):e63455. PMID: 37921537.
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    37. Duan R, Marafi D, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Houlden H, Lupashin VV, Zaki MS, Lupski JR, Xia ZJ, Ng BG, Posey JE, Freeze HH. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 11; 46(6):1195-1205. PMID: 37711075; PMCID: PMC10873070.
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    38. Thevenon J, Alkhawaja IA, Khawaja M, St?hn LG, Haack TB, Liu Z, Xin B, Smith IN, Sency V, Szekely J, Alkelai A, Shuldiner A, Efthymiou S, Rajabi F, Coury S, Brownstein CA, Rudnik-Sch?neborn S, Bruel AL, Zeidler S, Jayakar P, Schmidt A, Cremer K, Engels H, Peters SO, Zaki MS, Duan R, Zhu C, Xu Y, Gao C, Sepulveda-Morales T, Maroofian R, Alhalasah H, Houlden H, Madden JA, Turchetti V, Marafi D, Agrawal PB, Schatz U, Rotenberg A, Rotenberg J, Mancini GMS, Bakhtiari S, Kruer M, Thiffault I, Hirsch S, Hempel M, Posey JE, Lupski JR, Lee H, Sarn NB, Eng C, Gonzaga-Jauregui C, Zhang B, Wang H. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. Hum Mol Genet. 2023 10 04; 32(20):2981-2995. PMID: 37531237; PMCID: PMC10549786.
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    39. Grochowski CM, Bengtsson JD, Du H, Gandhi M, Lun MY, Mehaffey MG, Park K, H?ps W, Benito-Garagorri E, Hasenfeld P, Korbel JO, Mahmoud M, Paulin LF, Jhangiani SN, Muzny DM, Fatih JM, Gibbs RA, Pendleton M, Harrington E, Juul S, Lindstrand A, Sedlazeck FJ, Pehlivan D, Lupski JR, Carvalho CMB. Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. bioRxiv. 2023 Oct 03. PMID: 37873367; PMCID: PMC10592851.
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    40. Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Fr?nois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023 10 05; 110(10):1787-1803. PMID: 37751738; PMCID: PMC10577083.
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    41. Alinger JB, Mace EM, Porter JR, Mah-Som AY, Daugherty AL, Li S, Throm AA, Pingel JT, Saucier N, Yao A, Chinn IK, Lupski JR, Ehlayel M, Keller M, Bowman GR, Cooper MA, Orange JS, French AR. Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency. J Allergy Clin Immunol. 2024 01; 153(1):216-229. PMID: 37714437; PMCID: PMC11389843.
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    42. Lupski JR. Somatic cell structural variant mutagenesis and neurologic disease. Cell Genom. 2023 Aug 09; 3(8):100376. PMID: 37601978; PMCID: PMC10435373.
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    43. Moreno Vadillo C, Berger S, Torres RJ, Prior C, G?mez-Gonz?lez C, Holmgren M, Regier D, Calame DG, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Biskup S, Lupski JR, Maric D, Yano ST. Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 08 01; 146(8):3162-3171. PMID: 37043503; PMCID: PMC10393399.
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    44. Saffari A, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Alavi S, Day-Salvatore DL, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochm?ller H, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Ebrahimi-Fakhari D, Houlden H, Maroofian R, Lau T, Tarnopolsky M, Li C, Mart?nez-Gonz?lez MJ, Collins F, Rendu J, Faure J, Abedini S, Abicht A, Mohammadi MH, Andrew EH, Rahimian E, Christodoulou J, Suri M. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 08 01; 146(8):3273-3288. PMID: 36757831; PMCID: PMC10393417.
      Citations: 1     Fields:    Translation:Humans
    45. Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, ?stergaard E, Nazaryan-Petersen L, Undiagnosed Diseases Network, Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabe de Angelis M, H?lter SM, Cheung HH, Gu S, Lupski JR. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 08 03; 110(8):1394-1413. PMID: 37467750; PMCID: PMC10432148.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    46. Sczakiel HL, Zhao M, Wollert-Wulf B, Danyel M, Ehmke N, Stoltenburg C, Damseh N, Al-Ashhab M, Balci TB, Osmond M, Andrade A, Schallner J, Porrmann J, McDonald K, Liao M, Oppermann H, Platzer K, Dierksen N, Mojarrad M, Eslahi A, Bakaeean B, Calame DG, Lupski JR, Firoozfar Z, Seyedhassani SM, Mohammadi SA, Anwaar N, Rahman F, Seelow D, Janz M, Horn D, Maroofian R, Boschann F. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. Eur J Hum Genet. 2023 08; 31(8):905-917. PMID: 37188825; PMCID: PMC10400545.
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    47. Morales-Rosado JA, Schwab TL, Macklin-Mantia SK, Foley AR, Pinto E Vairo F, Pehlivan D, Donkervoort S, Rosenfeld JA, Boyum GE, Hu Y, Cong ATQ, Lotze TE, Mohila CA, Saade D, Bharucha-Goebel D, Chao KR, Grunseich C, Bruels CC, Littel HR, Estrella EA, Pais L, Kang PB, Zimmermann MT, Lupski JR, Lee B, Schellenberg MJ, Clark KJ, Wierenga KJ, B?nnemann CG, Klee EW. Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy. Am J Hum Genet. 2023 06 01; 110(6):989-997. PMID: 37167966; PMCID: PMC10257193.
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    48. Elbendary HM, Marafi D, Saad AK, Elhossini R, Duan R, Rafat K, Jhangiani SN, Gibbs RA, Pehlivan D, Calame DG, Posey JE, Lupski JR, Zaki MS. Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clin Genet. 2023 09; 104(3):344-349. PMID: 37157980; PMCID: PMC10524748.
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    49. Boschann F, Le Guyader G, Nordenskj?ld M, Nordgren A, Anderlid BM, Stoltenburg C, Horn D, Drenckhahn A, Lefebvre M, Attie-Bitach T, Forey P, Ernould F, Jacquemont ML, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Caron V, Chassaing N, Ragge N, Ngu AM, Meloche E, Chorfi S, Lakhani SA, Ji W, Steiner L, Marcadier J, Jansen PR, van de Pol LA, van Hagen JM, Russi AS, Plaisanci? J, Hamdan FF, Smirnov V, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski JR, Calame DG, Genevi?ve D, Chatron N, Schluth-Bolard C, Myers KA, Dobyns WB, Calvas P, DDD Study, Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin DM, Tremblay A, Michaud JL. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genet Med. 2023 08; 25(8):100856. PMID: 37092537; PMCID: PMC10757562.
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    50. Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Genevi?ve D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 05 04; 110(5):790-808. PMID: 37071997; PMCID: PMC10183470.
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    51. Posey JE, Lupski JR. Genomics in Clinical Practice. N Engl J Med. 2023 Apr 27; 388(17):1619-1620. PMID: 37043638.
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    52. Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nat Commun. 2023 04 11; 14(1):2026. PMID: 37041148; PMCID: PMC10090152.
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    53. Zemet R, Du H, Gambin T, Lupski JR, Liu P, Stankiewicz P. SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia. Hum Genet. 2023 Jun; 142(6):721-733. PMID: 37031326; PMCID: PMC10996436.
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    54. Jolly A, Du H, Borel C, Chen N, Zhao S, Grochowski CM, Duan R, Fatih JM, Dawood M, Salvi S, Jhangiani SN, Muzny DM, Koch A, Rouskas K, Glentis S, Deligeoroglou E, Bacopoulou F, Wise CA, Dietrich JE, Van den Veyver IB, Dimas AS, Brucker S, Sutton VR, Gibbs RA, Antonarakis SE, Wu N, Coban-Akdemir ZH, Zhu L, Posey JE, Lupski JR. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-K?ster-Hauser syndrome. HGG Adv. 2023 07 13; 4(3):100188. PMID: 37124138; PMCID: PMC10130500.
      Citations:    Translation:Humans
    55. Lecca M, Pehlivan D, Su?er DH, Weiss K, Coste T, Zweier M, Oktay Y, Danial-Farran N, Rosti V, Bonasoni MP, Malara A, Contr? G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, Posey JE, Bayramoglu SE, Gezdirici A, Hernandez-Rodriguez J, Cladera EA, Miravet E, Roldan-Busto J, Ruiz MA, Bauz? CV, Ben-Sira L, Sigaudy S, Begemann A, Unger S, G?ng?r S, Hiz S, Sonmezler E, Zehavi Y, Jerdev M, Balduini A, Zuffardi O, Horvath R, Lochm?ller H, Rauch A, Garavelli L, Tournier-Lasserve E, Spiegel R, Lupski JR, Errichiello E. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023 04 06; 110(4):681-690. PMID: 36996813; PMCID: PMC10119151.
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    56. Frost FG, Morimoto M, Sharma P, Ruaud L, Belnap N, Calame DG, Uchiyama Y, Matsumoto N, Oud MM, Ferreira EA, Narayanan V, Rangasamy S, Huentelman M, Emrick LT, Sato-Shirai I, Kumada S, Wolf NI, Steinbach PJ, Huang Y, Undiagnosed Diseases Network, Pusey BN, Passemard S, Levy J, Drunat S, Vincent M, Guet A, Agolini E, Novelli A, Digilio MC, Rosenfeld JA, Murphy JL, Lupski JR, Vezina G, Macnamara EF, Adams DR, Acosta MT, Tifft CJ, Gahl WA, Malicdan MCV. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. Am J Hum Genet. 2023 04 06; 110(4):663-680. PMID: 36965478; PMCID: PMC10119142.
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    57. Zemet R, Du H, Gambin T, Lupski JR, Liu P, Stankiewicz P. SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia. Res Sq. 2023 Mar 02. PMID: 36909564; PMCID: PMC10002829.
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    58. Cao X, Xu J, Lin YL, Cabrera RM, Chen Q, Zhang C, Steele JW, Han X, Gross SS, Wlodarczyk BJ, Lupski JR, Li W, Wang H, Finnell RH, Lei Y. Excess folic acid intake increases DNA de novo point mutations. Cell Discov. 2023 Feb 28; 9(1):22. PMID: 36849450; PMCID: PMC9970956.
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    59. Boschann F, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, H?gerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J, Cogulu O. Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Genet Med. 2023 May; 25(5):100799. PMID: 36853234.
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    60. Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Am J Hum Genet. 2023 03 02; 110(3):499-515. PMID: 36724785; PMCID: PMC10027477.
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    61. Dawood M, Akay G, Mitani T, Marafi D, Fatih JM, Gezdirici A, Najmabadi H, Kahrizi K, Punetha J, Grochowski CM, Du H, Jolly A, Li H, Coban-Akdemir Z, Sedlazeck FJ, Hunter JV, Jhangiani SN, Muzny D, Pehlivan D, Posey JE, Carvalho CMB, Gibbs RA, Lupski JR. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804. PMID: 36598158; PMCID: PMC9928800.
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    62. Salinas SA, Mace EM, Conte MI, Park CS, Li Y, Rosario-Sepulveda JI, Mahapatra S, Moore EK, Hernandez ER, Chinn IK, Reed AE, Lee BJ, Frumovitz A, Gibbs RA, Posey JE, Forbes Satter LR, Thatayatikom A, Allenspach EJ, Wensel TG, Lupski JR, Lacorazza HD, Orange JS. An ELF4 hypomorphic variant results in NK cell deficiency. JCI Insight. 2022 12 08; 7(23). PMID: 36477361; PMCID: PMC9746917.
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    63. Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Cl?ment P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Manti F, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM, Torella A, Nigro V. Biallelic variants in HECT E3 paralogs, HECTD4 and?UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. Genet Med. 2023 02; 25(2):100323. PMID: 36401616.
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    64. Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kepczynski L, Polatynska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022 12 01; 109(12):2270-2282. PMID: 36368327; PMCID: PMC9748253.
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    65. Conte MI, Poli MC, Taglialatela A, Leuzzi G, Chinn IK, Salinas SA, Rey-Jurado E, Olivares N, Veramendi-Espinoza L, Ciccia A, Lupski JR, Aldave Becerra JC, Mace EM, Orange JS. Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. JCI Insight. 2022 11 08; 7(21). PMID: 36345943; PMCID: PMC9675456.
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    66. Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Zaki MS, O'Brien TJ, Karimiani EG, Kaiyrzhanov R, Takizawa M, Ohori S, Leong HY, Akay G, Galehdari H, Zamani M, Romy R, Carroll CJ, Toosi MB, Ashrafzadeh F, Imannezhad S, Malek H, Ahangari N, Tomoum H, Gowda VK, Srinivasan VM, Murphy D, Dominik N, Elbendary HM, Rafat K, Yilmaz S, Kanmaz S, Serin M, Krishnakumar D, Gardham A, Maw A, Rao TS, Alsubhi S, Srour M, Buhas D, Jewett T, Goldberg RE, Shamseldin H, Frengen E, Misceo D, Str?mme P, Magliocco Ceroni JR, Kim CA, Yesil G, Sengenc E, Guler S, Hull M, Parnes M, Aktas D, Anlar B, Bayram Y, Pehlivan D, Posey JE, Alavi S, Madani Manshadi SA, Alzaidan H, Al-Owain M, Alabdi L, Abdulwahab F, Sekiguchi F, Hamanaka K, Fujita A, Uchiyama Y, Mizuguchi T, Miyatake S, Miyake N, Elshafie RM, Salayev K, Guliyeva U, Alkuraya FS, Gleeson JG, Monaghan KG, Langley KG, Yang H, Motavaf M, Safari S, Alipour M, Ogata K, Brown AEX, Lupski JR, Houlden H, Matsumoto N. Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42?affected individuals. Genet Med. 2023 01; 25(1):90-102. PMID: 36318270.
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    67. Du H, Jolly A, Grochowski CM, Yuan B, Dawood M, Jhangiani SN, Li H, Muzny D, Fatih JM, Coban-Akdemir Z, Carlin ME, Scheuerle AE, Witzl K, Posey JE, Pendleton M, Harrington E, Juul S, Hastings PJ, Bi W, Gibbs RA, Sedlazeck FJ, Lupski JR, Carvalho CMB, Liu P. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 10 27; 14(1):122. PMID: 36303224; PMCID: PMC9609164.
      Citations: 4     Fields:    Translation:Humans
    68. Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 11 03; 109(11):2068-2079. PMID: 36283405; PMCID: PMC9674946.
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    69. Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, Beck SG, Otani A, Angad J, Mitani T, Posey JE, Pehlivan D, Calame D, Aydin H, Yesilbas O, Parks KC, Argilli E, England E, Im K, Taranath A, Scott HS, Barnett CP, Arts P, Sherr EH, Lupski JR, Walsh CA. Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Dev Cell. 2022 10 24; 57(20):2381-2396.e13. PMID: 36228617; PMCID: PMC10585591.
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    70. Yuan B, Schulze KV, Assia Batzir N, Sinson J, Dai H, Zhu W, Fong CT, Holder J, Nguyen J, Schaaf CP, Yang Y, Bi W, Eng C, Shaw C, Lupski JR, Liu P, Bocanegra F. Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Genome Med. 2022 09 30; 14(1):113. PMID: 36180924; PMCID: PMC9526336.
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    71. Chung HL, Rump P, Lu D, Glassford MR, Mok JW, Fatih J, Basal A, Marcogliese PC, Kanca O, Rapp M, Fock JM, Kamsteeg EJ, Lupski JR, Larson A, Haninbal MC, Bellen H, Harel T. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. Hum Mol Genet. 2022 09 29; 31(19):3231-3244. PMID: 35234901; PMCID: PMC9523557.
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    72. Chander V, Mahmoud M, Hu J, Dardas Z, Grochowski CM, Dawood M, Khayat MM, Li H, Li S, Jhangiani S, Korchina V, Shen H, Weissenberger G, Meng Q, Gingras MC, Muzny DM, Doddapaneni H, Posey JE, Lupski JR, Sabo A, Murdock DR, Sedlazeck FJ, Gibbs RA. Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 12; 43(12):2033-2053. PMID: 36054313; PMCID: PMC10167679.
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    74. Ma C, Chen N, Jolly A, Zhao S, Coban-Akdemir Z, Tian W, Kang J, Ye Y, Wang Y, Koch A, Zhang Y, Qin C, Bonilla X, Borel C, Rall K, Chen Z, Jhangiani S, Niu Y, Li X, Qiu G, Zhang S, Luo G, Wu Z, Bacopoulou F, Deligeoroglou E, Zhang TJ, Rosenberg C, Gibbs RA, Dietrich JE, Dimas AS, Liu P, Antonarakis SE, Brucker SY, Posey JE, Lupski JR, Wu N, Zhu L, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) Study Group. Functional characteristics of a broad spectrum of TBX6?variants in Mayer-Rokitansky-K?ster-Hauser syndrome. Genet Med. 2022 11; 24(11):2262-2273. PMID: 36112137.
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    75. Huang Y, Ma M, Mao X, Pehlivan D, Kanca O, Un-Candan F, Shu L, Akay G, Mitani T, Lu S, Candan S, Wang H, Xiao B, Lupski JR, Bellen HJ. Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. Hum Mol Genet. 2022 08 23; 31(16):2751-2765. PMID: 35348658; PMCID: PMC9402236.
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    77. Marafi D, Kozar N, Duan R, Bradley S, Yokochi K, Al Mutairi F, Saadi NW, Whalen S, Brunet T, Kotzaeridou U, Choukair D, Keren B, Nava C, Kato M, Arai H, Froukh T, Faqeih EA, AlAsmari AM, Saleh MM, Pinto E Vairo F, Pichurin PN, Klee EW, Schmitz CT, Grochowski CM, Mitani T, Herman I, Calame DG, Fatih JM, Du H, Coban-Akdemir Z, Pehlivan D, Jhangiani SN, Gibbs RA, Miyatake S, Matsumoto N, Wagstaff LJ, Posey JE, Lupski JR, Meijer D, Wagner M. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 09 01; 109(9):1713-1723. PMID: 35948005; PMCID: PMC9502070.
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    81. Calame DG, Herman I, Maroofian R, Marshall AE, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Al-Sannaa NA, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JR, Tajsharghi H, Travaglini L, Nicita F. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321. PMID: 35471564; PMCID: PMC10054521.
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    83. Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain. 2022 04 29; 145(3):909-924. PMID: 34605855; PMCID: PMC9050560.
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    84. Brown GJ, Wang H, Medhavy A, Bones J, Roco JA, He Y, Qin Y, Cappello J, Ellyard JI, Bassett K, Shen Q, Burgio G, Zhang Y, Turnbull C, Meng X, Wu P, Cho E, Miosge LA, Andrews TD, Field MA, Tvorogov D, Lopez AF, Babon JJ, Pascual V, Levy T, Mallack EJ, Calame DG, Lotze T, Lupski JR, Ding H, Ullah TR, Walters GD, Koina ME, Cook MC, Shen N, Corry B, Gantier MP, Athanasopoulos V, Vinuesa CG, Ca?ete PF, L?pez CA, G?nzalez-Murillo ?, Garulo DC, de Lucas Collantes C. TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022 05; 605(7909):349-356. PMID: 35477763; PMCID: PMC9095492.
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    85. Lupski JR. Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine. Trends Genet. 2022 06; 38(6):554-571. PMID: 35450748; PMCID: PMC9222541.
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    86. Almannai M, Marafi D, Abdel-Salam GMH, Zaki MS, Duan R, Calame D, Herman I, Levesque F, Elbendary HM, Hegazy I, Chung WK, Kavus H, Saeidi K, Maroofian R, AlHashim A, Al-Otaibi A, Al Madhi A, Abou Al-Seood HM, Alasmari A, Houlden H, Gleeson JG, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 05; 101(5-6):530-540. PMID: 35322404; PMCID: PMC9359317.
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    87. Tasdelen E, Calame DG, Akay G, Mitani T, Fatih JM, Herman I, Du H, Coban-Akdemir Z, Marafi D, Jhangiani SN, Posey JE, Gibbs RA, Altiparmak T, Lupski JR, Pehlivan D, Kutlay NY. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Am J Med Genet A. 2022 07; 188(7):2153-2161. PMID: 35332675; PMCID: PMC9197852.
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    88. Rodrigues EDS, Griffith S, Martin R, Antonescu C, Posey JE, Coban-Akdemir Z, Jhangiani SN, Doheny KF, Lupski JR, Valle D, Hamosh A, Sheffer A, Einhorn Y, Cupak M, Sobreira N, Bamshad MJ, Chong JX. Variant-level matching for diagnosis and discovery: Challenges and opportunities. Hum Mutat. 2022 06; 43(6):782-790. PMID: 35191117; PMCID: PMC9133151.
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    89. Engesser M, Hamm JA, Hartig C, Akay G, Pehlivan D, Mitani T, Coban Akdemir Z, Shirakawa T, Dateki S, Claus LR, van Eerde AM, Genomics England Research Consortium, Devisme L, Wagner T, Bergmann C, Shril S, Pollack A, Wenger T, Scott AA, Paolucci S, Buchan J, Gabriel GC, Posey JE, Lupski JR, McCarthy AA, Pazour GJ, Lo CW, Popp B, M?nch J, Sch?nauer R, Hantmann E, T?ys?z B, Smol T, Franquet H, Atti?-Bitach T, H?hn AK, Petit F, Halbritter J. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. Kidney Int. 2022 05; 101(5):1039-1053. PMID: 35227688; PMCID: PMC10010616.
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    90. Zhao S, Zhang Y, Hallgrimsdottir S, Zuo Y, Li X, Batkovskyte D, Liu S, Wang S, Yang Y, Ye Y, Wang L, Yan Z, Lin J, Yu C, Chen Z, Niu Y, Wang H, Zhao Z, Liu P, Qiu G, Posey JE, Wu Z, Lupski JR, Micule I, Anderlid BM, Voss U, Nordgren A, Nilsson O, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Zhang TJ, Grigelioniene G, Wu N, Lindel?f H, Hammarsj? A, Sulander D, Kuchinskaya E. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ Genom Med. 2022 Feb 15; 7(1):11. PMID: 35169139; PMCID: PMC8847563.
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    91. Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA, Centers for Mendelian Genomics Consortium, Rehm HL, O'Donnell-Luria A. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 04; 24(4):784-797. PMID: 35148959; PMCID: PMC9119004.
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    92. Yanovsky-Dagan S, Frumkin A, Lupski JR, Harel T. CRISPR/Cas9-induced gene conversion between ATAD3 paralogs. HGG Adv. 2022 Apr 14; 3(2):100092. PMID: 35199044; PMCID: PMC8844715.
      Citations: 1     
    93. Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ Genom Med. 2021 Dec 07; 6(1):104. PMID: 34876591; PMCID: PMC8651650.
      Citations:    
    94. Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB, Ferreira BM, Honjo RS, Kok F, Martelli LR, Filho VO. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv. 2022 Jan 13; 3(1):100074. PMID: 35047859; PMCID: PMC8756549.
      Citations: 2     
    95. Fasham J, Lin S, Ghosh P, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Triggs-Raine B, Crosby AH, Baple EL, Radio FC, Pizzi S, Tartaglia M. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 03; 24(3):631-644. PMID: 34906488; PMCID: PMC9933146.
      Citations:    Fields:    Translation:HumansAnimals
    96. Chen CA, Lattier J, Zhu W, Rosenfeld J, Wang L, Scott TM, Du H, Patel V, Dang A, Magoulas P, Streff H, Sebastian J, Svihovec S, Curry K, Delgado MR, Hanchard NA, Lalani S, Marom R, Madan-Khetarpal S, Saenz M, Dai H, Meng L, Xia F, Bi W, Liu P, Posey JE, Scott DA, Lupski JR, Eng CM, Xiao R, Yuan B. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genet Med. 2022 02; 24(2):364-373. PMID: 34906496; PMCID: PMC8957292.
      Citations:    Fields:    Translation:Humans
    97. Herman I, Jolly A, Du H, Dawood M, Abdel-Salam GMH, Marafi D, Mitani T, Calame DG, Coban-Akdemir Z, Fatih JM, Hegazy I, Jhangiani SN, Gibbs RA, Pehlivan D, Posey JE, Lupski JR. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Am J Med Genet A. 2022 03; 188(3):735-750. PMID: 34816580; PMCID: PMC8837671.
      Citations: 1     Fields:    Translation:HumansAnimals
    98. Abdel-Salam GMH, Duan R, Abdel-Hamid MS, Sayed ISM, Jhangiani SN, Khan Z, Du H, Gibbs RA, Posey JE, Marafi D, Lupski JR. Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. Am J Med Genet A. 2022 02; 188(2):648-657. PMID: 34761517.
      Citations:    Fields:    Translation:HumansCells
    99. Mitani T, Isikay S, Gezdirici A, Gulec EY, Punetha J, Fatih JM, Herman I, Akay G, Du H, Calame DG, Ayaz A, Tos T, Yesil G, Aydin H, Geckinli B, Elcioglu N, Candan S, Sezer O, Erdem HB, Gul D, Demiral E, Elmas M, Yesilbas O, Kilic B, Gungor S, Ceylan AC, Bozdogan S, Ozalp O, Cicek S, Aslan H, Yalcintepe S, Topcu V, Bayram Y, Grochowski CM, Jolly A, Dawood M, Duan R, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Baylor-Hopkins Center for Mendelian Genomics, Marafi D, Akdemir ZC, Karaca E, Carvalho CMB, Gibbs RA, Posey JE, Lupski JR, Pehlivan D. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005. PMID: 34582790; PMCID: PMC8546040.
      Citations: 2     Fields:    Translation:Humans
    100. Calame DG, Fatih JM, Herman I, Coban-Akdemir Z, Du H, Mitani T, Jhangiani SN, Marafi D, Gibbs RA, Posey JE, Mehta VP, Mohila CA, Abid F, Lotze TE, Pehlivan D, Adesina AM, Lupski JR. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 10; 8(10):2052-2058. PMID: 34524739; PMCID: PMC8528454.
      Citations:    Fields:    Translation:Humans
    101. Hamosh A, Amberger JS, Bocchini CA, Bodurtha J, Bult CJ, Chute CG, Cutting GR, Dietz HC, Firth HV, Gibbs RA, Grody WW, Haendel MA, Lupski JR, Posey JE, Robinson PN, Schriml LM, Scott AF, Sobreira NL, Valle D, Wu N, Rasmussen SA. Response to Biesecker et?al. Am J Hum Genet. 2021 09 02; 108(9):1807-1808. PMID: 34478655; PMCID: PMC8456153.
      Citations:    Fields:    Translation:Humans
    102. Grochowski CM, Eisfeldt J, Du H, Lupski JR, Lindstrand A, Carvalho CMB, Krepischi ACV, Bertola DR, Oliveira D, Costa SS. Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome. Front Genet. 2021; 12:708348. PMID: 34512724; PMCID: PMC8427664.
      Citations: 1     
    103. Lupski JR. Clan genomics: From OMIM phenotypic traits to genes and biology. Am J Med Genet A. 2021 11; 185(11):3294-3313. PMID: 34405553; PMCID: PMC8530976.
      Citations: 7     Fields:    Translation:Humans
    104. Wohler E, Martin R, Griffith S, Rodrigues EDS, Antonescu C, Posey JE, Coban-Akdemir Z, Jhangiani SN, Doheny KF, Lupski JR, Valle D, Hamosh A, Sobreira N. PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. Orphanet J Rare Dis. 2021 08 18; 16(1):365. PMID: 34407837; PMCID: PMC8371856.
      Citations: 5     Fields:    Translation:Humans
    105. Calame DG, Bakhtiari S, Logan R, Coban-Akdemir Z, Du H, Mitani T, Fatih JM, Hunter JV, Herman I, Pehlivan D, Jhangiani SN, Person R, Schnur RE, Jin SC, Bilguvar K, Posey JE, Koh S, Firouzabadi SG, Alehabib E, Tafakhori A, Esmkhani S, Gibbs RA, Noureldeen MM, Zaki MS, Marafi D, Darvish H, Kruer MC, Lupski JR. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genet Med. 2021 12; 23(12):2455-2460. PMID: 34385670; PMCID: PMC8633036.
      Citations: 1     Fields:    Translation:HumansCells
    106. Khayat MM, Hu J, Jiang Y, Li H, Chander V, Dawood M, Hansen AW, Li S, Friedman J, Cross L, Bijlsma EK, Ruivenkamp CAL, Sansbury FH, Innis JW, O'Shea JO, Meng Q, Rosenfeld JA, McWalter K, Wangler MF, Lupski JR, Posey JE, Murdock D, Gibbs RA. AHDC1 missense mutations in Xia-Gibbs syndrome. HGG Adv. 2021 Oct 14; 2(4). PMID: 34950897; PMCID: PMC8694554.
      Citations: 1     
    107. Weerts MJA, Lanko K, Jackson A, Ramakrishnan R, van Bever Y, van Paassen BW, Kievit A, van Slegtenhorst M, Allen NM, Kehoe CM, Robinson HK, Pang L, Banu SH, Zaman M, Efthymiou S, Houlden H, Schrauwen I, Leal SM, Ruivenkamp CAL, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Galehdari H, Mazaheri N, Sisodiya SM, Harrison V, Sun A, Thies J, Pedroza LA, Lara-Taranchenko Y, Chinn IK, Lupski JR, Garza-Flores A, McGlothlin J, Yang L, Huang S, Wang X, Jewett T, Rosso G, Lin X, Mohammed S, Merritt JL, Mirzaa GM, Timms AE, Scheck J, Elting MW, Polstra AM, Schenck L, Ruzhnikov MRZ, Vetro A, Montomoli M, Guerrini R, Koboldt DC, Mosher TM, Pastore MT, McBride KL, Peng J, Pan Z, Willemsen M, Koning S, Turnpenny PD, de Vries BBA, Gilissen C, Pfundt R, Lees M, Braddock SR, Klemp KC, Vansenne F, van Gijn ME, Quindipan C, Deardorff MA, Hamm JA, Putnam AM, Baud R, Walsh L, Lynch SA, Baptista J, Person RE, Monaghan KG, Crunk A, Keller-Ramey J, Reich A, Elloumi HZ, Alders M, Kerkhof J, McConkey H, Haghshenas S, Genomics England Research Consortium, Maroofian R, Sadikovic B, Banka S, Arold ST, Barakat TS, Guzm?n-Vega FJ, Cardona-Londo?o KJ, Pe?a-Guerra KA, J?rvel? I, Lauronen L, M??tt? T. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 11; 23(11):2122-2137. PMID: 34345025; PMCID: PMC8553606.
      Citations: 4     Fields:    Translation:Humans
    108. Forbes LR, Eckstein OS, Gulati N, Peckham-Gregory EC, Ozuah NW, Lubega J, El-Mallawany NK, Agrusa JE, Vogel TP, Chaimowitz NS, Rider NL, Mace EM, Orange JS, Caldwell JW, Aldave-Becerra JC, Jolles S, Saettini F, Chong HJ, Stray-Pedersen A, Heslop HE, Kamdar KY, Rouce RH, Muzny DM, Jhangiani SN, Gibbs RA, Coban-Akdemir ZH, Lupski JR, McClain KL, Allen CE, Chinn IK, Poli MC. Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 02; 149(2):758-766. PMID: 34329649; PMCID: PMC8795244.
      Citations: 1     Fields:    Translation:HumansCells
    109. Chinn IK, Xie Z, Chan EC, Nagata BM, Koval A, Chen WS, Zhang F, Ganesan S, Hong DN, Suzuki M, Nardone G, Moore IN, Katanaev VL, Balazs AE, Liu C, Lupski JR, Orange JS, Druey KM. Short stature and combined immunodeficiency associated with mutations in RGS10. Sci Signal. 2021 07 27; 14(693). PMID: 34315806; PMCID: PMC8522579.
      Citations: 2     Fields:    Translation:HumansCells
    110. Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Cepni E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Yilmaz E, Xue S, Coon JJ, Nguyen Ly TT, Gilani N, Hasbini D, Kayserili H, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Seyedpour S, Khotaei GT, Bascom CC, Maroofian R, Chaabouni M, Alsubhi A, Eyaid W, Isikay S, Gleeson JG, Lupski JR, Casanova JL, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Reversade B, ??men DU, Lain? C. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet. 2021 Jul 01; 108(7):1356. PMID: 34214448; PMCID: PMC8322923.
      Citations:    Fields:    
    111. Cananzi M, Wohler E, Marzollo A, Colavito D, You J, Jing H, Bresolin S, Gaio P, Martin R, Mescoli C, Bade S, Posey JE, Dalle Carbonare M, Tung W, Jhangiani SN, Bosa L, Zhang Y, Filho JS, Gabelli M, Kellermayer R, Kader HA, Oliva-Hemker M, Perilongo G, Lupski JR, Biffi A, Valle D, Leon A, de Macena Sobreira NL, Su HC, Guerrerio AL. IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease. Hum Genet. 2021 Sep; 140(9):1299-1312. PMID: 34185153; PMCID: PMC8423350.
      Citations: 3     Fields:    Translation:HumansCTClinical Trials
    112. Li H, Dawood M, Khayat MM, Farek JR, Jhangiani SN, Khan ZM, Mitani T, Coban-Akdemir Z, Lupski JR, Venner E, Posey JE, Sabo A, Gibbs RA. Exome variant discrepancies due to reference-genome differences. Am J Hum Genet. 2021 07 01; 108(7):1239-1250. PMID: 34129815; PMCID: PMC8322936.
      Citations: 7     Fields:    Translation:Humans
    113. Marafi D, Tenconi R, Iascone M, Dabir T, Jackson A, Banka S, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Thomas Q, Gautier T, Besnard T, Willems M, Moutton S, Isidor B, Cogn? B, Conrad S, Sorlin A, Masurel A, Delanne J, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genet Med. 2021 10; 23(10):1901-1911. PMID: 34113008.
      Citations: 3     Fields:    Translation:Humans
    114. Calame DG, Herman I, Fatih JM, Du H, Akay G, Jhangiani SN, Coban-Akdemir Z, Milewicz DM, Gibbs RA, Posey JE, Marafi D, Hunter JV, Fan Y, Lupski JR, Miyake CY. Risk of sudden cardiac death in EXOSC5-related disease. Am J Med Genet A. 2021 08; 185(8):2532-2540. PMID: 34089229; PMCID: PMC8382094.
      Citations: 1     Fields:    Translation:Humans
    115. Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H, Keren B, Buratti J, Charles P, Nava C, H?ron D, Heide S, Yilmaz ?. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet Med. 2021 09; 23(9):1715-1725. PMID: 34054129; PMCID: PMC8460429.
      Citations: 5     Fields:    Translation:HumansAnimals
    116. Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, Nathan FM, Sirota FL, Liang C, Yarali N, Simsek-Kiper PO, Mitani T, Ceylaner S, Arman-Bilir O, Mbarek H, Gumruk F, Efthymiou S, Georgiadou D, Sotiropoulou K, Houlden H, Paul F, Pehlivan D, Chai G, Ali NA, Choo SC, Keng SS, Boisson B, Xue S, Coon JJ, Ly TTN, Gilani N, Hasbini D, Zaki MS, Isfort RJ, Ordonez N, Tripolszki K, Bauer P, Rezaei N, Khotaei GT, Bascom CC, Maroofian R, Alsubhi A, Eyaid W, Isikay S, Gleeson JG, Lupski JR, Pagliarini DJ, Akarsu NA, Maurer-Stroh S, Cetinkaya A, Bertoli-Avella A, Mathuru AS, Ho L, Bard FA, Cepni E, Ugurlu ?i Men D, Lain? C, Yilmaz E, Kayserili H, Seyedpour S, Chaabouni M, Casanova JL, Reversade B. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet. 2021 07 01; 108(7):1301-1317. PMID: 34038740; PMCID: PMC8322802.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    117. Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M, Mehrjardi MYV, Sherr EH, Parks KC, Argilli E, Begtrup A, Galehdari H, Balousha O, Shariati G, Mazaheri N, Malamiri RA, Pagnamenta AT, Kingston H, Banka S, Jackson A, Osmond M, Care4Rare Canada Consortium, Genomics England Research Consortium, Houlden H, Maroofian R, Hengel H, Hannan SB, Rie? A, Haack TB, N?gele T, Schuster S, Hauser S, Admard J, Casadei N, Velic A, Macek B, Ossowski S, Sch?ls L. Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. Am J Hum Genet. 2021 06 03; 108(6):1069-1082. PMID: 34022130; PMCID: PMC8206390.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    118. Coban-Akdemir Z, Yuan B, Gibbs RA, Burrage LC, Lupski JR, Chinn IK, Vogel TP, Orange JS, Contreras JL, Ladino MA, Ar?nguiz K, Mendez GP, Poli MC. Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature. Front Pediatr. 2021; 9:673957. PMID: 34095032; PMCID: PMC8172984.
      Citations: 3     
    119. Neuser S, Brechmann B, Heimer G, Schubert S, O'Grady L, Srivastava S, Sweetser DA, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Repetto GM, Seitz A, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D, Br?sse I, Zech M, Dincer Y, Mall V, Winkelmann J, Behrends C, Mu?oz T, Krumbiegel M. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 06; 42(6):762-776. PMID: 33847017.
      Citations: 6     Fields:    Translation:HumansCells
    120. Efthymiou S, Herman I, Rahman F, Anwar N, Maroofian R, Yip J, Mitani T, Calame DG, Hunter JV, Sutton VR, Yilmaz Gulec E, Duan R, Fatih JM, Marafi D, Pehlivan D, Jhangiani SN, Gibbs RA, Posey JE, SYNAPS Study Group, Maqbool S, Lupski JR, Houlden H. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 07; 185(7):2241-2249. PMID: 33964184; PMCID: PMC8436746.
      Citations: 2     Fields:    Translation:Humans
    121. Le Coz C, Nguyen DN, Su C, Nolan BE, Albrecht AV, Xhani S, Sun D, Demaree B, Pillarisetti P, Khanna C, Wright F, Chen PA, Yoon S, Stiegler AL, Maurer K, Garifallou JP, Rymaszewski A, Kroft SH, Olson TS, Seif AE, Wertheim G, Grant SFA, Vo LT, Puck JM, Sullivan KE, Routes JM, Zakharova V, Shcherbina A, Mukhina A, Rudy NL, Hurst ACE, Atkinson TP, Boggon TJ, Hakonarson H, Abate AR, Hajjar J, Nicholas SK, Lupski JR, Verbsky J, Chinn IK, Gonzalez MV, Wells AD, Marson A, Poon GMK, Romberg N. Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. J Exp Med. 2021 07 05; 218(7). PMID: 33951726; PMCID: PMC8105723.
      Citations: 3     Fields:    Translation:HumansCells
    122. Calame DG, Fatih J, Herman I, Akdemir ZC, Du H, Jhangiani SN, Gibbs RA, Marafi D, Pehlivan D, Posey JE, Lotze T, Mancias P, Bhattacharjee MB, Lupski JR. Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy. Neurol Genet. 2021 Jun; 7(3):e589. PMID: 33977145; PMCID: PMC8105884.
      Citations: 4     
    123. Yap ZY, Park YH, Wortmann SB, Gunning AC, Ezer S, Lee S, Duraine L, Wilson K, Mayr JA, Wagner M, Li H, Kini U, Black ED, Monaghan KG, Lupski JR, Ellard S, Westphal DS, Harel T, Yoon WH, Wilichowski E. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Genome Med. 2021 04 12; 13(1):55. PMID: 33845882; PMCID: PMC8042885.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    124. Duan R, Saadi NW, Grochowski CM, Bhadila G, Faridoun A, Mitani T, Du H, Fatih JM, Jhangiani SN, Akdemir ZC, Gibbs RA, Pehlivan D, Posey JE, Marafi D, Lupski JR. A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A. 2021 07; 185(7):1972-1980. PMID: 33797191; PMCID: PMC8445493.
      Citations: 6     Fields:    Translation:HumansCells
    125. Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Lupski JR, Posey JE, Chen S, Gong C, Wu N. Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature. J Genet Genomics. 2021 05 20; 48(5):396-402. PMID: 34006472.
      Citations: 4     Fields:    Translation:Humans
    126. Acharya A, Jhangiani SN, Arvio M, Kankuri-Tammilehto M, Kokkonen H, Varilo T, Fang M, Hadley TD, Jolly A, Linnankivi T, Paetau R, Saarela A, Olme J, Nouel-Saied LM, Cornejo-Sanchez DM, Llaci L, Lupski JR, Posey JE, Leal SM, Schrauwen I, J?rvel? I, M??tt? T, Lepp?l? J, Siren A, Palom?ki M, K?lvi?inen R. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Hum Genet. 2021 Jul; 140(7):1011-1029. PMID: 33710394; PMCID: PMC8197721.
      Citations: 4     Fields:    Translation:Humans
    127. Swierkowska J, Karolak JA, Gambin T, Rydzanicz M, Mrugacz M, Podfigurna-Musielak M, Stankiewicz P, Lupski JR, Gajecka M, Frajdenberg A. Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe. Adv Med Sci. 2021 Mar; 66(1):192-198. PMID: 33711669.
      Citations: 1     Fields:    Translation:Humans
    128. Khayat MM, Li H, Chander V, Hu J, Hansen AW, Li S, Traynelis J, Shen H, Weissenberger G, Stossi F, Johnson HL, Lupski JR, Posey JE, Sabo A, Meng Q, Murdock DR, Wangler M, Gibbs RA. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat. 2021 05; 42(5):577-591. PMID: 33644933; PMCID: PMC8115934.
      Citations: 2     Fields:    Translation:Humans
    129. Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, High FA, Armstrong-Javors A, Kamel WA, Al-Hashel JY, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y, Joset P, Steindl K, Rauch A, Hackenberg A, Mencacci NE, Gonz?lez-Latapi P, Bustos BI. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833. PMID: 33443317.
      Citations: 3     Fields:    Translation:HumansCells
    130. Saad AK, Marafi D, Mitani T, Du H, Rafat K, Fatih JM, Jhangiani SN, Coban-Akdemir Z, Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Pehlivan D, Hunter JV, Posey JE, Zaki MS, Lupski JR. Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. Am J Med Genet A. 2021 04; 185(4):1288-1293. PMID: 33544954; PMCID: PMC8450764.
      Citations: 3     Fields:    Translation:Humans
    131. Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group, Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Lupski JR, Wu N, Zhu L, Koch A, Rall K, Brucker SY. Perturbations of genes essential for M?llerian duct and W?lffian duct development in Mayer-Rokitansky-K?ster-Hauser syndrome. Am J Hum Genet. 2021 02 04; 108(2):337-345. PMID: 33434492; PMCID: PMC7896104.
      Citations: 14     Fields:    Translation:Humans
    132. Saettini F, Poli C, Vengoechea J, Bonanomi S, Fazio G, Rodriguez FH, Booth C, Shams M, Vukic M, Gasperini S, Quadri M, Barroeta Seijas A, Rivers E, Mauri M, Badolato R, Cazzaniga G, Bugarin C, Gaipa G, Kroes WGM, Moratto D, van Oostaijen-Ten Dam MM, Baas F, Piazza R, Coban-Akdemir ZH, Lupski JR, Yuan B, Chinn IK, Daxinger L, Biondi A, Orellana JC, Noguera LP, Jarur-Chamy V, Iascone M, van der Maarel S. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood. 2021 01 28; 137(4):493-499. PMID: 32905580; PMCID: PMC7845007.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    133. Nistala H, Dronzek J, Gonzaga-Jauregui C, Chim SM, Rajamani S, Nuwayhid S, Delgado D, Burke E, Karaca E, Franklin MC, Sarangapani P, Podgorski M, Tang Y, Dominguez MG, Withers M, Deckelbaum RA, Scheonherr CJ, Gahl WA, Malicdan MC, Zambrowicz B, Gale NW, Gibbs RA, Chung WK, Lupski JR, Economides AN. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet. 2021 01 06; 29(21):3516-3531. PMID: 33105479; PMCID: PMC7788287.
      Citations: 3     Fields:    Translation:HumansAnimals
    134. Mubungu G, Makay P, Yanda S, Posey JE, Lupski JR, Boujemla B, Bours V, Lukusa P, Devriendt K, Lumaka A. Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa). Am J Med Genet A. 2021 03; 185(3):990-994. PMID: 33372375; PMCID: PMC9235023.
      Citations: 4     Fields:    Translation:Humans
    135. Hansen AW, Arora P, Khayat MM, Smith LJ, Lewis AM, Rossetti LZ, Jayaseelan J, Cristian I, Haynes D, DiTroia S, Meeks N, Delgado MR, Rosenfeld JA, Pais L, White SM, Meng Q, Pehlivan D, Liu P, Gingras MC, Wangler MF, Muzny DM, Lupski JR, Kaplan CD, Gibbs RA. Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. HGG Adv. 2021 Jan 14; 2(1). PMID: 33665635; PMCID: PMC7928427.
      Citations: 6     
    136. Rickman OJ, Salter CG, Gunning AC, Fasham J, Voutsina N, Leslie JS, McGavin L, Cross HE, Posey JE, Akdemir ZC, Jhangiani SN, Lupski JR, Baple EL, Crosby AH. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord. 2021 01; 82:84-86. PMID: 33260061.
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    137. Zhang C, Mazzeu JF, Eisfeldt J, Grochowski CM, White J, Akdemir ZC, Jhangiani SN, Muzny DM, Gibbs RA, Lindstrand A, Lupski JR, Sutton VR, Carvalho CMB. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 12; 185(12):3593-3600. PMID: 33048444; PMCID: PMC8445516.
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    138. Lupski JR, Liu P, Stankiewicz P, Carvalho CMB, Posey JE. Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 10; 20(10):995-1002. PMID: 32954863; PMCID: PMC8208305.
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    139. Hansen AW, Khayat MM, Chander V, Grochowski CM, Jiang Y, Li H, Mitani T, Kessler E, Jayaseelan J, Shen H, Gezdirici A, Pehlivan D, Meng Q, Rosenfeld JA, Jhangiani SN, Madan-Khetarpal S, Scott DA, Gingras MC, Muzny DM, Posey JE, Liu P, Lupski JR, Gibbs RA, Montenegro-Garreaud X, Abarca-Barriga H, Trubnykova M. Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 12; 41(12):2094-2104. PMID: 32935419; PMCID: PMC7903881.
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    140. Martin PB, Kigoshi-Tansho Y, Sher RB, Ravenscroft G, Stauffer JE, Kumar R, Yonashiro R, Griffith C, Allen W, Pehlivan D, Harel T, Zenker M, Howting D, Schanze D, Faqeih EA, Almontashiri NAM, Maroofian R, Houlden H, Mazaheri N, Galehdari H, Douglas G, Posey JE, Ryan M, Lupski JR, Laing NG, Joazeiro CAP, Cox GA, M?ller T. Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun. 2020 Oct 01; 11(1):5022. PMID: 33004807; PMCID: PMC7529740.
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    141. Saad AK, Marafi D, Mitani T, Jolly A, Du H, Elbendary HM, Jhangiani SN, Akdemir ZC, Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Hunter JV, Carvalho CMBC, Pehlivan D, Posey JE, Zaki MS, Lupski JR. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. Brain. 2020 10 01; 143(10):e83. PMID: 33011761; PMCID: PMC7586085.
      Citations: 2     Fields:    Translation:Humans
    142. Pettersson M, Grochowski CM, Wincent J, Eisfeldt J, Breman AM, Cheung SW, Lupski JR, Ottosson J, Lovmar L, Lundberg ES, Nilsson D, Carvalho CMB, Lindstrand A, Krepischi ACV, Rosenberg C, Gacic J. Cytogenetically visible inversions are formed by multiple molecular mechanisms. Hum Mutat. 2020 11; 41(11):1979-1998. PMID: 32906200; PMCID: PMC7702065.
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    143. Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZC, Jhangiani SN, Muzny DM, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS, Stray-Pedersen A. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 10 01; 130(10):5272-5286. PMID: 32865517; PMCID: PMC7524476.
      Citations: 11     Fields:    Translation:HumansCells
    144. Wild KT, Gordon T, Bhoj EJ, Du H, Jhangiani SN, Posey JE, Lupski JR, Scott DA, Zackai EH. Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. Am J Med Genet A. 2020 12; 182(12):2919-2925. PMID: 32954677; PMCID: PMC7988837.
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    145. Martin PB, Kigoshi-Tansho Y, Sher RB, Ravenscroft G, Stauffer JE, Kumar R, Yonashiro R, Griffith C, Allen W, Pehlivan D, Harel T, Zenker M, Howting D, Schanze D, Faqeih EA, Almontashiri NAM, Maroofian R, Houlden H, Mazaheri N, Galehdari H, Douglas G, Posey JE, Ryan M, Lupski JR, Laing NG, Joazeiro CAP, Cox GA, M?ller T. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun. 2020 09 15; 11(1):4625. PMID: 32934225; PMCID: PMC7494853.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    146. Kuhny M, Forbes LR, Vega-Loza A, Kostiuk V, Dinesh RK, Stray-Pedersen A, Pezzi AE, Hanson IC, Vargas-Hernandez A, Xu ML, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Chinn IK, Schatz DG, Orange JS, Meffre E, ?akan E, Glauzy S. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020 08 03; 130(8):4411-4422. PMID: 32484799; PMCID: PMC7410074.
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    147. Robak LA, Du R, Yuan B, Gu S, Alfradique-Dunham I, Kondapalli V, Hinojosa E, Stillwell A, Young E, Zhang C, Song X, Du H, Gambin T, Jhangiani SN, Coban Akdemir Z, Muzny DM, Tejomurtula A, Ross OA, Shaw C, Jankovic J, Bi W, Posey JE, Lupski JR, Shulman JM. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease. Neurol Genet. 2020 Oct; 6(5):e498. PMID: 32802956; PMCID: PMC7413630.
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    148. Lenz D, Crushell E, Husain RA, Salomons GS, Alhaddad B, Bernstein JA, Bianzano A, Brennenstuhl H, Dikow N, Hanson-Kahn A, Harting I, Hughes J, Huijberts M, Kathemann S, Kopajtich R, Kotzaeridou U, Lainka E, Lupski JR, Posey JE, Reynolds C, Rosenfeld JA, Vansenne F, Wagner M, Wolffenbuttel BHR, Wortmann SB, Hoffmann GF, Prokisch H, Mendes MI, Staufner C, Smith DEC, Biskup S, Caldari D, Haack TB, Horn D, Isidor B, K?ry S, Laugwitz L, Schr?ter J, Wei? C, K?lker S. Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. Genet Med. 2020 11; 22(11):1863-1873. PMID: 32699352.
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    149. Gambin T, Liu Q, Karolak JA, Grochowski CM, Xie NG, Wu LR, Yan YH, Cao Y, Coban Akdemir ZH, Wilson TA, Jhangiani SN, Chen E, Eng CM, Muzny D, Posey JE, Yang Y, Zhang DY, Shaw C, Liu P, Lupski JR, Stankiewicz P. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genet Med. 2020 11; 22(11):1768-1776. PMID: 32655138; PMCID: PMC7606563.
      Citations: 11     Fields:    Translation:Humans
    150. Franciskovich R, Soler-Alfonso C, Neira-Fresneda J, Lupski JR, McCann-Crosby B, Potocki L. Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS. Am J Med Genet A. 2020 09; 182(9):2077-2084. PMID: 32656927; PMCID: PMC8445515.
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    151. Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ, Vargas-Hern?ndez A. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science. 2020 07 10; 369(6500):202-207. PMID: 32647003; PMCID: PMC8383235.
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    152. Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, Schmitt E, Ward PA, Vetrini F, He W, Chiang T, Muzny D, Gibbs RA, Beaudet AL, Breman AM, Smith J, Cheung SW, Bacino CA, Eng CM, Yang Y, Lupski JR, Bi W. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 10; 22(10):1633-1641. PMID: 32576985; PMCID: PMC8445517.
      Citations: 13     Fields:    Translation:Humans
    153. Liu Q, Grochowski CM, Bi W, Lupski JR, Stankiewicz P. Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions. Curr Protoc Hum Genet. 2020 06; 106(1):e99. PMID: 32176465; PMCID: PMC7138410.
      Citations: 2     Fields:    Translation:Humans
    154. Yang N, Wu N, Dong S, Zhang L, Zhao Y, Chen W, Du R, Song C, Ren X, Liu J, Pehlivan D, Liu Z, Rao J, Wang C, Zhao S, Breman AM, Xue H, Sun H, Shen J, Zhang S, Posey JE, Xu H, Jin L, Zhang J, Liu P, Sanna-Cherchi S, Qiu G, Wu Z, Lupski JR, Zhang F. Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. Kidney Int. 2020 10; 98(4):1020-1030. PMID: 32450157; PMCID: PMC7673260.
      Citations: 4     Fields:    Translation:HumansAnimals
    155. Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Ferrero GB, Nampoothiri S, Mowat D, Patel MS, Bracho A, Gezdirici A, Hauser N, Zarate YA, Bosanko KA, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM, Verloes A, Tartaglia M, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerri?re A, Aziza J, Dubucs C, Cammarata-Scalisi F, Fernandez-Jaen A, Dieterich K. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med. 2020 08; 22(8):1338-1347. PMID: 32424177; PMCID: PMC7737399.
      Citations: 6     Fields:    Translation:Humans
    156. Zhao S, Zhang Y, Chen W, Li W, Wang S, Wang L, Zhao Y, Lin M, Ye Y, Lin J, Zheng Y, Liu J, Zhao H, Yan Z, Yang Y, Huang Y, Lin G, Chen Z, Zhang Z, Liu S, Jin L, Wang Z, Chen J, Niu Y, Li X, Wu Y, Wang Y, Du R, Gao N, Zhao H, Yang Y, Liu Y, Tian Y, Li W, Zhao Y, Liu J, Yu B, Zhang N, Yu K, Yang X, Li S, Xu Y, Hu J, Liu Z, Shen J, Zhang S, Su J, Khanshour AM, Kidane YH, Ramo B, Rios JJ, Liu P, Sutton VR, Posey JE, Wu Z, Qiu G, Wise CA, Zhang F, Lupski JR, Zhang J, Wu N, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet. 2021 01; 58(1):41-47. PMID: 32381727; PMCID: PMC7802082.
      Citations: 20     Fields:    Translation:Humans
    157. Liu Q, Karolak JA, Grochowski CM, Wilson TA, Rosenfeld JA, Bacino CA, Lalani SR, Patel A, Breman A, Smith JL, Cheung SW, Lupski JR, Bi W, Stankiewicz P. Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. Genomics. 2020 09; 112(5):2937-2941. PMID: 32387503; PMCID: PMC7363577.
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    158. Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, Howell K, Fatih JM, Smaldone S, Schlesinger AE, Cornier AS, Kelly MA, Haber R, Chim SM, Nieman K, Wu N, Walls J, Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center, Poueymirou W, Siao CJ, Sutton VR, Williams MS, Posey JE, Gibbs RA, Tegay DH, Economides AN, Lupski JR, Ram?rez N, Carlo S. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 09; 28(9):1243-1264. PMID: 32376988; PMCID: PMC7608441.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    159. Marafi D, Mitani T, Isikay S, Hertecant J, Almannai M, Manickam K, Abou Jamra R, El-Hattab AW, Rajah J, Fatih JM, Du H, Karaca E, Bayram Y, Punetha J, Rosenfeld JA, Jhangiani SN, Boerwinkle E, Akdemir ZC, Erdin S, Hunter JV, Gibbs RA, Pehlivan D, Posey JE, Lupski JR. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 05; 7(5):610-627. PMID: 32286009; PMCID: PMC7261753.
      Citations: 5     Fields:    Translation:Humans
    160. Coban-Akdemir ZH, Charng WL, Azamian M, Paine IS, Punetha J, Grochowski CM, Gambin T, Valdes SO, Cannon B, Zapata G, Hernandez PP, Jhangiani S, Doddapaneni H, Hu J, Boricha F, Muzny DM, Boerwinkle E, Yang Y, Gibbs RA, Posey JE, Wehrens XHT, Belmont JW, Kim JJ, Miyake CY, Lupski JR, Lalani SR. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 06; 182(6):1387-1399. PMID: 32233023; PMCID: PMC7275694.
      Citations: 3     Fields:    Translation:Humans
    161. Plesser Duvdevani M, Pettersson M, Eisfeldt J, Avraham O, Dagan J, Frumkin A, Lupski JR, Lindstrand A, Harel T. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. Am J Med Genet A. 2020 05; 182(5):1143-1151. PMID: 32125084; PMCID: PMC7502196.
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    162. Lloyd KCK, Adams DJ, Baynam G, Beaudet AL, Boycott KM, Braun RE, Caulfield M, Cohn R, Dickinson ME, Dobbie MS, Flenniken AM, Flicek P, Galande S, Gao X, Grobler A, Heaney JD, Lupski JR, Mallon AM, Mammano F, MacRae CA, McKerlie C, Meehan TF, Murray SA, Nutter LMJ, Obata Y, Parkinson H, Pepper MS, Sedlacek R, Seong JK, Shiroishi T, Smedley D, Tocchini-Valentini G, Valle D, Wang CL, Wells S, White J, Xu Y, Brown SDM, Bosch F, Herault Y, de Angelis MH, Lyonnet S, McInnes R, Wurst W. The Deep Genome Project. Genome Biol. 2020 02 03; 21(1):18. PMID: 32008577; PMCID: PMC6996159.
      Citations: 12     Fields:    Translation:HumansAnimals
    163. Gunning AC, Strucinska K, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Jones AWE, Taylor RW, Misra VK, Yoon WH, Wright CF, Lupski JR, Spinazzola A, Harel T, Ellard S, Mu?oz Oreja M, Fernandez Pelayo U, Holt IJ. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet. 2020 02 06; 106(2):272-279. PMID: 32004445; PMCID: PMC7010973.
      Citations: 12     Fields:    Translation:HumansCells
    164. Chen S, Jain M, Jhangiani S, Akdemir ZC, Klein RF, Nielson C, Dai H, Muzny DM, Boerwinkle E, Gibbs RA, Orwoll ES, Lupski JR, Posey JE, Lee B, Campeau PM. Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). JBMR Plus. 2020 Mar; 4(3):e10335. PMID: 32161841; PMCID: PMC7059823.
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    165. Van Bergen NJ, Guo Y, Al-Deri N, Lipatova Z, Stanga D, Zhao S, Murtazina R, Gyurkovska V, Pehlivan D, Mitani T, Gezdirici A, Antony J, Collins F, Willis MJH, Coban Akdemir ZH, Liu P, Punetha J, Hunter JV, Jhangiani SN, Fatih JM, Rosenfeld JA, Posey JE, Gibbs RA, Karaca E, Massey S, Ranasinghe TG, Sleiman P, Troedson C, Lupski JR, Sacher M, Segev N, Hakonarson H, Christodoulou J. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain. 2020 01 01; 143(1):112-130. PMID: 31794024; PMCID: PMC6935753.
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    166. Ren X, Yang N, Wu N, Xu X, Chen W, Zhang L, Li Y, Du RQ, Dong S, Zhao S, Chen S, Jiang LP, Wang L, Zhang J, Wu Z, Jin L, Qiu G, Lupski JR, Shi J, Zhang F, Liu P. Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice. J Med Genet. 2020 06; 57(6):371-379. PMID: 31888956; PMCID: PMC9179029.
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    167. Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Baglaj M, Bosanko KB, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Hurst ACE, Jhangiani SN, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO, Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Lupski JR, Beaudet AL, Wangler MF, Bofferding L, Bouassida S, Heck S, Isidor B, Rocha ML. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654. PMID: 31769566; PMCID: PMC7720429.
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    168. Bahrambeigi V, Song X, Sperle K, Beck CR, Hijazi H, Grochowski CM, Gu S, Seeman P, Woodward KJ, Carvalho CMB, Hobson GM, Lupski JR. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med. 2019 12 09; 11(1):80. PMID: 31818324; PMCID: PMC6902434.
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    169. Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 12 02; 129(12):5568-5583. PMID: 31557132; PMCID: PMC6877339.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    170. Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Nieto Moreno M, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Sutton VR. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 01; 182(1):38-52. PMID: 31782611; PMCID: PMC7713511.
      Citations: 10     Fields:    Translation:Humans
    171. Lin M, Liu Z, Liu G, Zhao S, Li C, Chen W, Coban Akdemir Z, Lin J, Song X, Wang S, Xu Q, Zhao Y, Wang L, Zhang Y, Yan Z, Liu S, Liu J, Chen Y, Zuo Y, Yang X, Sun T, Yang XZ, Niu Y, Li X, You W, Qiu B, Ding C, Liu P, Zhang S, Carvalho CMB, Posey JE, Qiu G, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Lupski JR, Wu Z, Zhang J, Wu N. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med. 2020 01; 8(1):e1023. PMID: 31774634; PMCID: PMC6978264.
      Citations: 9     Fields:    Translation:HumansCells
    172. Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, Hassin-Baer S, Poke G, Neas K, Geschwind MD, Grody WW, Gibbs R, Geschwind DH, Lupski JR, Below JE, Nelson SF, Fogel BL. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 02; 41(2):487-501. PMID: 31692161; PMCID: PMC7182470.
      Citations: 15     Fields:    Translation:HumansCells
    173. Link N, Chung H, Jolly A, Withers M, Tepe B, Arenkiel BR, Shah PS, Krogan NJ, Aydin H, Geckinli BB, Tos T, Isikay S, Tuysuz B, Mochida GH, Thomas AX, Clark RD, Mirzaa GM, Lupski JR, Bellen HJ. Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. Dev Cell. 2019 12 16; 51(6):713-729.e6. PMID: 31735666; PMCID: PMC6917859.
      Citations: 28     Fields:    Translation:HumansAnimalsCells
    174. Hijazi H, Gonzaga-Jauregui C, Bernardini L, Mar SS, Manning MA, Hanson-Kahn A, Naidu S, Srivastava S, Lee JA, Jones JR, Friez MJ, Alberico T, Torres B, Fang P, Cheung SW, Song X, Davis-Williams A, Jornlin C, Wight PA, Patyal P, Taube J, Poretti A, Inoue K, Zhang F, Pehlivan D, Carvalho CMB, Hobson GM, Lupski JR, Coelho FS. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 01; 41(1):150-168. PMID: 31448840; PMCID: PMC6953250.
      Citations: 3     Fields:    Translation:HumansCells
    175. Hansen AW, Murugan M, Li H, Khayat MM, Wang L, Rosenfeld J, Andrews BK, Jhangiani SN, Coban Akdemir ZH, Sedlazeck FJ, Ashley-Koch AE, Liu P, Muzny DM, Task Force for Neonatal Genomics, Davis EE, Katsanis N, Sabo A, Posey JE, Yang Y, Wangler MF, Eng CM, Sutton VR, Lupski JR, Boerwinkle E, Gibbs RA. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 11 07; 105(5):974-986. PMID: 31668702; PMCID: PMC6849092.
      Citations: 13     Fields:    Translation:Humans
    176. Dias CM, Punetha J, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R, Zheng C, Polla DL. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 11 07; 105(5):1048-1056. PMID: 31668703; PMCID: PMC6849109.
      Citations: 11     Fields:    Translation:Humans
    177. Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD, Deciphering Developmental Disorders Study, Wang K, Timmers HTM, Lyon GJ, Lumaka A, Lukusa P, Gon?alves AR, Soares G, Oliveira J, Ad?s LC. Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Hum Mutat. 2019 Oct 23. PMID: 31646703; PMCID: PMC7187541.
      Citations: 7     Fields:    
    178. Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R, Baylor-Hopkins Center for Mendelian Genomics, Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 11 07; 105(5):1005-1015. PMID: 31630790; PMCID: PMC6848995.
      Citations: 8     Fields:    Translation:HumansCells
    179. Lam MT, Brigida I, Scala S, Netter P, Carisey AF, Diehl M, Camerini S, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Basso-Ricci L, Janning P, Stray-Pedersen A, Erichsen HC, Horne A, Bryceson YT, Torralba-Raga L, Ramme K, Rosti V, Chinn IK, Lupski JR, Mace EM, Aiuti A, Orange JS, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Zara E, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, Ciolfi A, Akbarzadeh M, Conti F, Merli P, Pastore A, Levi Mortera S, Farina L, Buchholzer M, Pannone L, Chiriaco M, Dvorsky R, Putignani L, Carsetti R, Bracaglia C, Messia V, Palma P, Finocchi A, Locatelli F, Cancrini C, Ahmadian MR, De Benedetti F, Tartaglia M. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019 12 02; 216(12):2778-2799. PMID: 31601675; PMCID: PMC6888978.
      Citations: 55     Fields:    Translation:HumansAnimalsCells
    180. Robyns T, Willems R, Van Cleemput J, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Breckpot J, Devriendt K, Corveleyn A. Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20. Acta Cardiol. 2020 Dec; 75(8):748-753. PMID: 31583969; PMCID: PMC7124986.
      Citations: 4     Fields:    Translation:Humans
    181. Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, Shen J, Wang S, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Zhang J, Delgado MR, Posey JE, Qiu G, Rios JJ, Liu P, Wise CA, Zhang F, Wu Z, Lupski JR, Wu N. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat. 2020 01; 41(1):182-195. PMID: 31471994; PMCID: PMC7061259.
      Citations: 10     Fields:    Translation:HumansCells
    182. Burk CM, Coffey KE, Mace EM, Bostwick BL, Chinn IK, Coban-Akdemir ZH, Jhangiani SN, Lupski JR, Ortiz D, Barnum JL, Allen SW, Robertson LM, Orange JS, Chong HJ. Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation. J Allergy Clin Immunol Pract. 2020 03; 8(3):1103-1106.e3. PMID: 31520839; PMCID: PMC7064430.
      Citations: 2     Fields:    Translation:HumansCells
    183. Karaca E, Posey JE, Bostwick B, Liu P, Gezdirici A, Yesil G, Coban Akdemir Z, Bayram Y, Harms FL, Meinecke P, Alawi M, Bacino CA, Sutton VR, Lupski JR, Kort?m F. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A. 2019 10; 179(10):2056-2066. PMID: 31407851; PMCID: PMC6936249.
      Citations: 6     Fields:    Translation:Humans
    184. Ding X, Zhao S, Zhang Q, Yan Z, Wang Y, Wu Y, Li X, Liu J, Niu Y, Zhang Y, Zhang M, Wang H, Zhang Y, Chen W, Yang XZ, Liu P, Posey JE, Lupski JR, Wu Z, Yang X, Wu N, Wang K. Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family. J Neurointerv Surg. 2020 Feb; 12(2):221-226. PMID: 31401562; PMCID: PMC7014815.
      Citations: 3     Fields:    Translation:Humans
    185. Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Abali ZY, Hacihamdioglu B, Coban Akdemir ZH, Hijazi H, Bas S, Atay Z, Guran T, Abali S, Bas F, Darendeliler F, Colombo R, Barakat TS, Rinne T, White JJ, Yesil G, Gezdirici A, Gulec EY, Karaca E, Pehlivan D, Jhangiani SN, Muzny DM, Poyrazoglu S, Bereket A, Gibbs RA, Posey JE, Lupski JR. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. J Clin Endocrinol Metab. 2019 08 01; 104(8):3049-3067. PMID: 31042289; PMCID: PMC6563799.
      Citations: 17     Fields:    Translation:Humans
    186. Posey JE, Coban-Akdemir Z, Jhangiani S, Mace EM, Reyes A, Forbes LR, Chinn IK, Lupski JR, Orange JS, Aird A, Lagos M, Vargas-Hern?ndez A, King A, Cavagnaro F, Poli MC. Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome. Front Pediatr. 2019; 7:303. PMID: 31417880; PMCID: PMC6682634.
      Citations: 6     
    187. Kaplan K, McCool C, Lupski JR, Glaze D, Potocki L. Objective measures of sleep disturbances in children with Potocki-Lupski syndrome. Am J Med Genet A. 2019 10; 179(10):1982-1986. PMID: 31342617; PMCID: PMC6953247.
      Citations:    Fields:    Translation:Humans
    188. Karolak JA, Szafranski P, Kilner D, Patel C, Scurry B, Kinning E, Chandler K, Jhangiani SN, Coban Akdemir ZH, Lupski JR, Popek E, Stankiewicz P. Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet. 2019 10; 96(4):366-370. PMID: 31309540; PMCID: PMC6953252.
      Citations: 3     Fields:    Translation:Humans
    189. Punetha J, Karaca E, Gezdirici A, Lamont RE, Pehlivan D, Marafi D, Appendino JP, Hunter JV, Akdemir ZC, Fatih JM, Jhangiani SN, Gibbs RA, Innes AM, Posey JE, Lupski JR. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol. 2019 08; 6(8):1395-1406. PMID: 31402629; PMCID: PMC6689679.
      Citations: 4     Fields:    Translation:Humans
    190. Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR, University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR, Santer R, Wilichowski E, Wortmann SB. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316. PMID: 31256877; PMCID: PMC6698803.
      Citations: 16     Fields:    Translation:Humans
    191. Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480. PMID: 31216405; PMCID: PMC6934160.
      Citations: 63     Fields:    Translation:Humans
    192. Pehlivan D, Bayram Y, Gunes N, Coban Akdemir Z, Shukla A, Tabakci B, Sahin Y, Gezdirici A, Fatih JM, Gulec EY, Yesil G, Punetha J, Ocak Z, Grochowski CM, Karaca E, Albayrak HM, Radhakrishnan P, Erdem HB, Sahin I, Yildirim T, Bayhan IA, Bursali A, Elmas M, Yuksel Z, Ozdemir O, Silan F, Yildiz O, Yesilbas O, Isikay S, Balta B, Gu S, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Gibbs RA, Tsiakas K, Girisha KM, Gul D, Posey JE, Elcioglu NH, Tuysuz B, Lupski JR, Bierhals T, Hempel M. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 07 03; 105(1):132-150. PMID: 31230720; PMCID: PMC6612529.
      Citations: 37     Fields:    Translation:Humans
    193. Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 05 17; 11(1):30. PMID: 31101064; PMCID: PMC6525387.
      Citations: 17     Fields:    Translation:Humans
    194. Bodkin JA, Coleman MJ, Godfrey LJ, Carvalho CMB, Morgan CJ, Suckow RF, Anderson T, Kaufman MJ, Lewandowski KE, Siegel AJ, Waldstreicher E, Grochowski CM, Javitt DC, Rujescu D, Hebbring S, Weinshilboum R, Rodriguez SB, Kirchhoff C, Visscher T, Vuckovic A, Fialkowski A, McCarthy S, Malhotra D, Sebat J, Goff DC, Hudson JI, Lupski JR, Coyle JT, Rudolph U, Levy DL, ?ng?r D. Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. Biol Psychiatry. 2019 10 01; 86(7):523-535. PMID: 31279534; PMCID: PMC6745274.
      Citations: 15     Fields:    Translation:HumansCTClinical Trials
    195. Carvalho CMB, Coban-Akdemir Z, Hijazi H, Yuan B, Pendleton M, Harrington E, Beaulaurier J, Juul S, Turner DJ, Kanchi RS, Jhangiani SN, Muzny DM, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, Stankiewicz P, Belmont JW, Shaw CA, Cheung SW, Hanchard NA, Sutton VR, Bader PI, Lupski JR. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25. PMID: 31014393; PMCID: PMC6480824.
      Citations: 7     Fields:    Translation:HumansCells
    196. Schulze KV, Szafranski P, Lesmana H, Hopkin RJ, Hamvas A, Wambach JA, Shinawi M, Zapata G, Carvalho CMB, Liu Q, Karolak JA, Lupski JR, Hanchard NA, Stankiewicz P. Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics. 2019 04 08; 11(1):60. PMID: 30961659; PMCID: PMC6454695.
      Citations: 5     Fields:    Translation:HumansCells
    197. Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J, Burrage LC, Seaver LH, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P, Van Maldergem L. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 03 25; 11(1):16. PMID: 30909959; PMCID: PMC6434874.
      Citations:    Fields:    
    198. Lupski JR. A Human in Human Genetics. Cell. 2019 03 21; 177(1):9-15. PMID: 30901553.
      Citations: 3     Fields:    Translation:Humans
    199. Lupski JR. 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements. Am J Hum Genet. 2019 03 07; 104(3):391-406. PMID: 30849326; PMCID: PMC6407437.
      Citations: 7     Fields:    Translation:Humans
    200. Ehresmann S, Beauregard-Lacroix E, Rousseau J, Garcia T, Avni S, McWalter K, Blackburn PR, Sanders SJ, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Bedoukian E, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Wentzensen IM, CAUSES Study, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Biesecker LG, Lowenstein D, Posey JE, Deciphering Developmental Disorders study, Yang XJ, Rosenfeld JA, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Campeau PM, Cogn? B, Besnard T, Petrovski S, Uguen K, Gordon CT, Nordenskj?ld M, Holla ?L, Filippini F, Guimier A, Picard A, Busk ?L, Toutain A, Odent S, Bonneau D, Latypova X, Deb W, Redon S, Bilan F, Legendre M, Amiel J, Lyonnet S, Isidor B, Denomm?-Pichon AS, F?rec C, Gilbert-Dussardier B, Audebert-Bellanger S, B?zieau S, K?ry S. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 03 07; 104(3):530-541. PMID: 30827496; PMCID: PMC6407527.
      Citations: 12     Fields:    Translation:HumansCells
    201. Beck CR, Carvalho CMB, Akdemir ZC, Sedlazeck FJ, Song X, Meng Q, Hu J, Doddapaneni H, Chong Z, Chen ES, Thornton PC, Liu P, Yuan B, Withers M, Jhangiani SN, Kalra D, Walker K, English AC, Han Y, Chen K, Muzny DM, Ira G, Shaw CA, Gibbs RA, Hastings PJ, Lupski JR. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10. PMID: 30827684; PMCID: PMC6438178.
      Citations: 29     Fields:    Translation:HumansCells
    202. Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL, Burrage LC, Seaver LH, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P, Van Maldergem L. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12. PMID: 30819258; PMCID: PMC6393995.
      Citations: 10     Fields:    Translation:Humans
    203. Simeonov DR, Brandt AJ, Chan AY, Cortez JT, Li Z, Woo JM, Lee Y, Carvalho CMB, Indart AC, Roth TL, Zou J, May AP, Lupski JR, Anderson MS, Buaas FW, Rokhsar DS, Marson A. A large CRISPR-induced bystander mutation causes immune dysregulation. Commun Biol. 2019; 2:70. PMID: 30793048; PMCID: PMC6379443.
      Citations: 8     Translation:AnimalsCells
    204. Auffray C, Griffin JL, Khoury MJ, Lupski JR, Schwab M. Ten years of Genome Medicine. Genome Med. 2019 02 15; 11(1):7. PMID: 30767786; PMCID: PMC6376775.
      Citations: 3     Fields:    Translation:Humans
    205. Yang N, Wu N, Zhang L, Zhao Y, Liu J, Liang X, Ren X, Li W, Chen W, Dong S, Zhao S, Lin J, Xiang H, Xue H, Chen L, Sun H, Zhang J, Shi J, Zhang S, Lu D, Wu X, Jin L, Ding J, Qiu G, Wu Z, Lupski JR, Zhang F. TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. Hum Mol Genet. 2019 02 15; 28(4):539-547. PMID: 30307510; PMCID: PMC6489408.
      Citations: 24     Fields:    Translation:HumansAnimals
    206. Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW, Volpi S, D?ckers G, Stray-Pedersen A. A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency. J Allergy Clin Immunol. 2019 06; 143(6):2296-2299. PMID: 30771411; PMCID: PMC6677392.
      Citations: 31     Fields:    Translation:Humans
    207. Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P, Partoens M, Distelmaier F, Kovacs-Nagy R. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nat Commun. 2019 02 12; 10(1):708. PMID: 30755616; PMCID: PMC6372652.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    208. Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR, Centers for Mendelian Genomics, G?nel M. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 04; 21(4):798-812. PMID: 30655598; PMCID: PMC6691975.
      Citations: 73     Fields:    Translation:Humans
    209. Liu J, Wu N, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M, Japan Early Onset Scoliosis Research Group, Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D, Baylor-Hopkins Center for Mendelian Genomics, Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genet Med. 2019 07; 21(7):1548-1558. PMID: 30636772; PMCID: PMC6659397.
      Citations: 28     Fields:    Translation:HumansAnimals
    210. Karolak JA, Deutsch G, Gambin T, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Denis-Musquer M, Joubert M, Martinovic J, Carles D, Devisme L, Chalabreysse L, Don M, Orsaria M, Missirian C, Sanlaville D, Pons L, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Stankiewicz P, Vincent M, Cogn? B, Pichon O, Besnard T, Petit F, Bache I, T?mer Z, B?n?teau C, Molin A, Andr? G, Bieth E, Chassaing N, Pasquier L, Secq V, Mortreux J, K?ry S, B?zieau S, Liet JM, Joram N, Bihou?e T, Isidor B, Le Caignec C. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. 2019 02 07; 104(2):213-228. PMID: 30639323; PMCID: PMC6369446.
      Citations: 28     Fields:    Translation:HumansCells
    211. Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 04; 27(4):563-573. PMID: 30622330; PMCID: PMC6460585.
      Citations: 10     Fields:    Translation:HumansAnimals
    212. Oswiecimska J, Dawidziuk M, Gambin T, Ziora K, Marek M, Rzonca S, Guilbride DL, Jhangiani SN, Obuchowicz A, Sikora A, Lupski JR, Wiszniewski W, Gawlinski P. A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy J Clin Res Pediatr Endocrinol. 2019 09 03; 11(3):319-326. PMID: 30563316; PMCID: PMC6745459.
      Citations: 2     Fields:    Translation:HumansCells
    213. Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, Markello TC, Posey JE, Adams DR, Lloyd-Evans E, Lupski JR, Gahl WA, Malicdan MCV. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. Am J Hum Genet. 2018 11 01; 103(5):794-807. PMID: 30401460; PMCID: PMC6218603.
      Citations: 5     Fields:    
    214. Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Muzny DM, Hanchard N, Belmont JW, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC, Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P, Piard J, Van Maldergem L. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 Oct; 5(10):1277-1285. PMID: 30349862; PMCID: PMC6186933.
      Citations: 28     Fields:    
    215. Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L, DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P, Stray-Pedersen A. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675. PMID: 30158690; PMCID: PMC6395558.
      Citations: 23     Fields:    Translation:Humans
    216. Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 08; 14(8):e1007504. PMID: 30157172; PMCID: PMC6133373.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    217. Punetha J, Mackay-Loder L, Harel T, Coban-Akdemir Z, Jhangiani SN, Gibbs RA, Lee I, Terespolsky D, Lupski JR, Posey JE. Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis. Mol Genet Metab. 2018 11; 125(3):302-304. PMID: 30249361; PMCID: PMC6326168.
      Citations: 5     Fields:    Translation:Humans
    218. Wang K, Zhao S, Liu B, Zhang Q, Li Y, Liu J, Shen Y, Ding X, Lin J, Wu Y, Yan Z, Chen J, Li X, Song X, Niu Y, Liu J, Chen W, Ming Y, Du R, Chen C, Long B, Zhang Y, Tong X, Zhang S, Posey JE, Zhang B, Wu Z, Wythe JD, Liu P, Lupski JR, Yang X, Wu N. Perturbations of BMP/TGF-? and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM). J Med Genet. 2018 10; 55(10):675-684. PMID: 30120215; PMCID: PMC6161649.
      Citations: 33     Fields:    Translation:HumansAnimalsCells
    219. Race V, Peeters H, Corveleyn A, Coban-Akdemir Z, Jhangiani SN, Song X, Mubungu G, Posey J, Lupski JR, Vermeesch JR, Lukusa P, Devriendt K, Lumaka A. A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A. 2018 09; 176(9):1897-1909. PMID: 30088852; PMCID: PMC6325645.
      Citations: 3     Fields:    Translation:HumansCells
    220. Trivellin G, Sharwood E, Hijazi H, Carvalho CMB, Yuan B, Tatton-Brown K, Coman D, Lupski JR, Cotterill AM, Lodish MB, Stratakis CA. Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. J Endocr Soc. 2018 Oct 01; 2(10):1100-1108. PMID: 30525125; PMCID: PMC6137279.
      Citations: 2     
    221. Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Uyguner ZO. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 Sep; 137(9):689-703. PMID: 30046887; PMCID: PMC6165673.
      Citations: 5     Fields:    Translation:Humans
    222. Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, Bayram Y, Chinn IK, Karaca E, Punetha J, Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Shaw CA, Orange JS, Gibbs RA, Lappalainen T, Lupski JR, Carvalho CMB, Poli C. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 08 02; 103(2):171-187. PMID: 30032986; PMCID: PMC6081281.
      Citations: 70     Fields:    Translation:HumansCells
    223. Liu J, Zhou Y, Liu S, Song X, Yang XZ, Fan Y, Chen W, Akdemir ZC, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song YQ, Posey JE, Qiu G, DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) Study, Zhang F, Wu Z, Lupski JR, Wu N. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Hum Genet. 2018 Jul; 137(6-7):553-567. PMID: 30019117; PMCID: PMC6200315.
      Citations: 20     Fields:    Translation:Humans
    224. Jordan VK, Beck TF, Hernandez-Garcia A, Kundert PN, Kim BJ, Jhangiani SN, Gambin T, Starkovich M, Punetha J, Paine IS, Posey JE, Li AH, Muzny D, Hsu CW, Lashua AJ, Sun X, Fernandes CJ, Dickinson ME, Lally KP, Gibbs RA, Boerwinkle E, Lupski JR, Scott DA. The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia. Hum Mol Genet. 2018 06 15; 27(12):2064-2075. PMID: 29618029; PMCID: PMC5985720.
      Citations: 7     Fields:    Translation:HumansAnimals
    225. Song X, Beck CR, Du R, Campbell IM, Coban-Akdemir Z, Gu S, Breman AM, Stankiewicz P, Ira G, Shaw CA, Lupski JR. Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements. Genome Res. 2018 08; 28(8):1228-1242. PMID: 29907612; PMCID: PMC6071635.
      Citations: 35     Fields:    Translation:HumansCells
    226. Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Akdemir ZC, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet. 2018 06 01; 27(11):1913-1926. PMID: 29566152; PMCID: PMC5961111.
      Citations: 19     Fields:    Translation:HumansAnimals
    227. Callaway DA, Campbell IM, Stover SR, Hernandez-Garcia A, Jhangiani SN, Punetha J, Paine IS, Posey JE, Muzny D, Lally KP, Lupski JR, Shaw CA, Fernandes CJ, Scott DA. Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm. J Pediatr Genet. 2018 Dec; 7(4):164-173. PMID: 30430034; PMCID: PMC6234038.
      Citations: 6     
    228. Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B, Undiagnosed Diseases Network members, Lupski JR, Bostwick BL, Orange JS, Poli MC, Ebstein F, Benavides F, Zieba BA, K?ry S, Kr?ger E. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142. PMID: 29805043; PMCID: PMC5992134.
      Citations: 51     Fields:    Translation:HumansCells
    229. Grochowski CM, Gu S, Yuan B, Tcw J, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB. Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Hum Mutat. 2018 07; 39(7):939-946. PMID: 29696747; PMCID: PMC5995661.
      Citations: 11     Fields:    Translation:HumansCells
    230. Blenski M, Wierenga KJ, Jhangiani SN, Akdemir ZC, Crawford D, McTiernan N, Myklebust LM, Purcarin G, McNall-Knapp R, Wadley A, Belmont JW, Kim JJ, Lupski JR, Arnesen T, St?ve SI, Stray-Pedersen A. A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. Eur J Hum Genet. 2018 09; 26(9):1294-1305. PMID: 29748569; PMCID: PMC6117304.
      Citations: 16     Fields:    Translation:HumansCells
    231. Wiszniewski W, Gawlinski P, Gambin T, Bekiesinska-Figatowska M, Obersztyn E, Antczak-Marach D, Akdemir ZHC, Harel T, Karaca E, Jurek M, Sobecka K, Nowakowska B, Kruk M, Terczynska I, Goszczanska-Ciuchta A, Rudzka-Dybala M, Jamroz E, Pyrkosz A, Jakubiuk-Tomaszuk A, Iwanowski P, Gieruszczak-Bialek D, Piotrowicz M, Sasiadek M, Kochanowska I, Gurda B, Steinborn B, Dawidziuk M, Castaneda J, Wlasienko P, Bezniakow N, Jhangiani SN, Hoffman-Zacharska D, Bal J, Szczepanik E, Boerwinkle E, Gibbs RA, Lupski JR. Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 08; 26(8):1121-1131. PMID: 29706646; PMCID: PMC6057976.
      Citations: 11     Fields:    Translation:Humans
    232. Karaca E, Posey JE, Coban Akdemir Z, Pehlivan D, Harel T, Jhangiani SN, Bayram Y, Song X, Bahrambeigi V, Yuregir OO, Bozdogan S, Yesil G, Isikay S, Muzny D, Gibbs RA, Lupski JR. Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537. PMID: 29790871; PMCID: PMC6450542.
      Citations: 50     Fields:    Translation:Humans
    233. Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 06; 176(6):1315-1326. PMID: 29696776; PMCID: PMC6231716.
      Citations: 16     Fields:    Translation:Humans
    234. Konno H, Chinn IK, Hong D, Orange JS, Lupski JR, Mendoza A, Pedroza LA, Barber GN. Pro-inflammation Associated with a Gain-of-Function Mutation (R284S) in the Innate Immune Sensor STING. Cell Rep. 2018 04 24; 23(4):1112-1123. PMID: 29694889; PMCID: PMC6092751.
      Citations: 32     Fields:    Translation:HumansAnimalsCells
    235. Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ, Stray-Pedersen A, K?ry S. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994. PMID: 29656860; PMCID: PMC5986698.
      Citations: 22     Fields:    Translation:HumansAnimalsCells
    236. Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, Goldman JR, Pedroza LA, Poli MC, Aldave-Becerra JC, McGhee SA, Al-Herz W, Chamdin A, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Cao TN, Hong DN, Gibbs RA, Lupski JR, Orange JS, McClain KL, Allen CE, Stray-Pedersen A. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 07 05; 132(1):89-100. PMID: 29632024; PMCID: PMC6034641.
      Citations: 47     Fields:    Translation:HumansCTClinical Trials
    237. Gawlinski P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Dawidziuk M, Coban-Akdemir ZH, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M, R?zdzynska-Swiatkowska A. Phenotype expansion and development in Kosaki overgrowth syndrome. Clin Genet. 2018 04; 93(4):919-924. PMID: 29226947.
      Citations: 6     Fields:    Translation:Humans
    238. Dinckan N, Du R, Akdemir ZC, Bayram Y, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Guven Y, Aktoren O, Kayserili H, Boerwinkle E, Gibbs RA, Posey JE, Lupski JR, Uyguner ZO, Letra A. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 04; 176(4):1015-1022. PMID: 29436111; PMCID: PMC5933053.
      Citations: 4     Fields:    Translation:HumansAnimals
    239. Makrythanasis P, Maroofian R, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH, Hamamy H, Gleeson JG, Lupski JR, Karimiani EG, Antonarakis SE, Stray-Pedersen A. Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 03; 26(3):330-339. PMID: 29343805; PMCID: PMC5839044.
      Citations: 31     Fields:    Translation:HumansCells
    240. Chinn IK, Angelo LS, Cao TN, Coban-Akdemir Z, Jhangiani SN, Meng Q, Forbes LR, Muzny DM, Ehlayel MS, Gibbs RA, Lupski JR, Uzel G, Orange JS, Mace EM, Ruiz-Garc?a R, Vargas-Hern?ndez A, Allende LM. Mutations in PI3K110d cause impaired natural killer cell function partially rescued by rapamycin treatment. J Allergy Clin Immunol. 2018 08; 142(2):605-617.e7. PMID: 29330011; PMCID: PMC6109967.
      Citations: 17     Fields:    Translation:HumansCells
    241. Lessel D, Schob C, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K, C4RCD Research Group, Brunner HG, Elpeleg O, Mercier S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, K?ry S, Cogn? B, B?zieau S, Kreienkamp HJ. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2018 01 04; 102(1):196. PMID: 29304375; PMCID: PMC5777981.
      Citations: 1     Fields:    
    242. White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB, Ramond F, Touraine R, Thevenon J. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 01 04; 102(1):27-43. PMID: 29276006; PMCID: PMC5777383.
      Citations: 40     Fields:    Translation:HumansCells
    243. Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438. PMID: 28973083; PMCID: PMC6359927.
      Citations: 130     Fields:    Translation:Humans
    244. Harel T, Lupski JR. Genomic disorders 20 years on-mechanisms for clinical manifestations. Clin Genet. 2018 03; 93(3):439-449. PMID: 28950406.
      Citations: 34     Fields:    Translation:Humans
    245. Schob C, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Stegmann APA, Gerkes EH, Revah-Politi A, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, DDD study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K, C4RCD Research Group, Brunner HG, Elpeleg O, Kleefstra T, Kindler S, Lupski JR, Lessel D, K?ry S, Colin E, Tessarech M, Bonneau D, Barth M, Besnard T, Cogn? B, Strom TM, Mercier S, B?zieau S, Kubisch C, Kreienkamp HJ. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 Nov 02; 101(5):716-724. PMID: 29100085; PMCID: PMC5673606.
      Citations: 27     Fields:    Translation:HumansCells
    246. Li AH, Hanchard NA, Furthner D, Fernbach S, Azamian M, Nicosia A, Rosenfeld J, Muzny D, D'Alessandro LCA, Morris S, Jhangiani S, Parekh DR, Franklin WJ, Lewin M, Towbin JA, Penny DJ, Fraser CD, Martin JF, Eng C, Lupski JR, Gibbs RA, Boerwinkle E, Belmont JW. Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Med. 2017 10 31; 9(1):95. PMID: 29089047; PMCID: PMC5664429.
      Citations: 19     Fields:    Translation:Humans
    247. Hampton OA, English AC, Wang M, Salerno WJ, Liu Y, Muzny DM, Han Y, Wheeler DA, Worley KC, Lupski JR, Gibbs RA. SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. BMC Genomics. 2017 Oct 03; 18(Suppl 6):691. PMID: 28984202; PMCID: PMC5629590.
      Citations: 2     Fields:    
    248. Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P, Faivre L, Lefebvre M. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83. PMID: 28934986; PMCID: PMC5607840.
      Citations: 29     Fields:    Translation:Humans
    249. Vogelaar IP, van der Post RS, van Krieken JHJ, Spruijt L, van Zelst-Stams WA, Kets CM, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, de Ligt J, Vissers LELM, Hoischen A, Gilissen C, van de Vorst M, Goeman JJ, Ranzani GN, Molinaro V, Hes FJ, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, van Kessel AG, Kuiper RP, Ligtenberg MJL, Hoogerbrugge N, Pinheiro H, Oliveira C, Schackert HK, G?mez Garc?a EB, Holinski-Feder E, Bj?rnevoll I, H?berg-Vetti H. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. Eur J Hum Genet. 2017 11; 25(11):1246-1252. PMID: 28875981; PMCID: PMC5643972.
      Citations: 21     Fields:    Translation:Humans
    250. Gillentine MA, White JJ, Grochowski CM, Lupski JR, Schaaf CP, Calarge CA. CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents. J Child Adolesc Psychopharmacol. 2017 Dec; 27(10):908-915. PMID: 28817303; PMCID: PMC5725633.
      Citations: 4     Fields:    Translation:Humans
    251. Dinckan N, Du R, Petty LE, Coban-Akdemir Z, Jhangiani SN, Paine I, Baugh EH, Erdem AP, Kayserili H, Doddapaneni H, Hu J, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Uyguner ZO, Below JE, Letra A. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res. 2018 Jan; 97(1):49-59. PMID: 28813618; PMCID: PMC6728545.
      Citations: 19     Fields:    Translation:Humans
    252. Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL, Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 08 14; 9(1):73. PMID: 28807008; PMCID: PMC5557075.
      Citations: 18     Fields:    Translation:Humans
    253. Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Charif M, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P, Denomm?-Pichon AS, Besnard T, B?zieau S, Cogn? B. Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 08; 136(8):1009-1011. PMID: 28660352.
      Citations: 2     Fields:    
    254. Miszalski-Jamka K, Jefferies JL, Mazur W, Glowacki J, Hu J, Lazar M, Gibbs RA, Liczko J, Klys J, Venner E, Muzny DM, Rycaj J, Bialkowski J, Kluczewska E, Kalarus Z, Jhangiani S, Al-Khalidi H, Kukulski T, Lupski JR, Craigen WJ, Bainbridge MN. Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2017 Aug; 10(4). PMID: 28798025; PMCID: PMC5665372.
      Citations: 36     Fields:    Translation:Humans
    255. Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF, Members of the UDN. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905. PMID: 28742085; PMCID: PMC5557584.
      Citations: 36     Fields:    Translation:HumansAnimals
    256. Valera JM, Diaz T, Petty LE, Quint?ns B, Y??ez Z, Boerwinkle E, Muzny D, Akhmedov D, Berdeaux R, Sobrido MJ, Gibbs R, Lupski JR, Geschwind DH, Perlman S, Below JE, Fogel BL. Prevalence of spinocerebellar ataxia 36 in a US population. Neurol Genet. 2017 Aug; 3(4):e174. PMID: 28761930; PMCID: PMC5515602.
      Citations: 7     
    257. Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Coban Akdemir Z, Pehlivan D, Begtrup A, Carvalho CMB, Paine IS, Mentes A, Bektas-Kayhan K, Karaca E, Jhangiani SN, Muzny DM, Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Lupski JR. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 Jul 06; 101(1):149-156. PMID: 28686854; PMCID: PMC5501868.
      Citations: 21     Fields:    Translation:HumansCells
    258. Jehee FS, de Oliveira VT, Gurgel-Giannetti J, Pietra RX, Rubatino FVM, Vianna GS, de Freitas ML, Fernandes KS, Ribeiro BSV, Ali-Amin R, Baylor-Hopkins Center for Mendelian Genomics, White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Carobin NV, Br?ggenwirth HT, Varela MC, Koiffmann C, Rosenberg C, Carvalho CMB. Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A. 2017 Sep; 173(9):2451-2455. PMID: 28631899; PMCID: PMC5561000.
      Citations: 17     Fields:    Translation:HumansCells
    259. Halim D, Brosens E, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Burns AJ, Tibboel D, Hofstra RMW, Alves MM, Muller F, Oury JF, Rosenblatt J. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am J Hum Genet. 2017 Jul 06; 101(1):123-129. PMID: 28602422; PMCID: PMC5501771.
      Citations: 19     Fields:    Translation:HumansCells
    260. Chinn IK, Sanders RP, Coban-Akdemir ZH, Kim VH, Dadi H, Roifman CM, Quigg T, Lupski JR, Orange JS, Hanson IC, Stray-Pedersen A. Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168. Front Immunol. 2017; 8:576. PMID: 28603521; PMCID: PMC5445153.
      Citations: 8     Fields:    
    261. Zhang L, Wang J, Zhang C, Li D, Carvalho CMB, Ji H, Xiao J, Wu Y, Zhou W, Wang H, Jin L, Luo Y, Wu X, Lupski JR, Zhang F, Jiang Y. Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders. Hum Mol Genet. 2017 05 15; 26(10):1927-1941. PMID: 28334874; PMCID: PMC6075079.
      Citations: 11     Fields:    Translation:HumansCells
    262. Patel DR, Yu H, Wong LC, Lupski JR, Seeborg FO, Rider NL, Martinez CA, Orange JS, Hanson C. Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report. J Allergy Clin Immunol Pract. 2017 Sep - Oct; 5(5):1442-1444. PMID: 28438538.
      Citations: 2     Fields:    Translation:HumansPHPublic Health
    263. Besnard T, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Nugent KM, Gibson JB, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Stankiewicz P, Isidor B, K?ry S, Ebstein F, Latypova X, Denomm?-Pichon AS, Schmitt S, Malan V, Brice?o I, G?mez A, Cogn? B, B?zieau S. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 04 06; 100(4):689. PMID: 28388435; PMCID: PMC5384094.
      Citations: 4     Fields:    
    264. Falah N, Posey JE, Thorson W, Benke P, Tekin M, Tarshish B, Lupski JR, Harel T. 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Am J Med Genet A. 2017 Apr; 173(4):1066-1070. PMID: 28328136; PMCID: PMC5536953.
      Citations: 9     Fields:    Translation:HumansCells
    265. Ahmed M, Salpietro V, Maroofian R, Al-Amri A, Singh R, Mojarrad M, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL, Zollo M, Ferrucci V, Asadzadeh F, Carotenuto M, Scognamiglio I, Musella L, Duilio A, Di Somma A. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain. 2017 Apr 01; 140(4):940-952. PMID: 28334956; PMCID: PMC5382943.
      Citations: 13     Fields:    Translation:HumansCells
    266. Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR, Stray-Pedersen A, K?ry S, Mercier S. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26. PMID: 28327206; PMCID: PMC5361813.
      Citations: 90     Fields:    Translation:Humans
    267. Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, Xia F, Plon SE, Lupski JR, Schaaf CP, Yang Y. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Apr; 49(4):613-617. PMID: 28288113; PMCID: PMC5373987.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    268. Wang DS, Wu X, Bai Y, Zaidman C, Grider T, Kamholz J, Lupski JR, Connolly AM, Shy ME. PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E. Ann Clin Transl Neurol. 2017 04; 4(4):236-245. PMID: 28382305; PMCID: PMC5376752.
      Citations: 2     Fields:    
    269. Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a000984. PMID: 28299356; PMCID: PMC5334472.
      Citations: 5     Fields:    Translation:Humans
    270. Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Charif M, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P, Denomm?-Pichon AS, Besnard T, B?zieau S, Cogn? B. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 04; 136(4):377-386. PMID: 28251352; PMCID: PMC5543723.
      Citations: 18     Fields:    Translation:Humans
    271. Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR, Stray-Pedersen A. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648. PMID: 27980096; PMCID: PMC5389578.
      Citations: 60     Fields:    Translation:HumansCells
    272. Liu P, Yuan B, Carvalho CMB, Wuster A, Walter K, Zhang L, Gambin T, Chong Z, Campbell IM, Coban Akdemir Z, Gelowani V, Writzl K, Bacino CA, Lindsay SJ, Withers M, Gonzaga-Jauregui C, Wiszniewska J, Scull J, Stankiewicz P, Jhangiani SN, Muzny DM, Zhang F, Chen K, Gibbs RA, Rautenstrauss B, Cheung SW, Smith J, Breman A, Shaw CA, Patel A, Hurles ME, Lupski JR. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 02 23; 168(5):830-842.e7. PMID: 28235197; PMCID: PMC5407901.
      Citations: 32     Fields:    Translation:HumansCells
    273. Tcw J, Carvalho CMB, Yuan B, Gu S, Altheimer AN, McCarthy S, Malhotra D, Sebat J, Siegel AJ, Rudolph U, Lupski JR, Levy DL, Brennand KJ. Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of?Psychosis. Stem Cell Reports. 2017 03 14; 8(3):519-528. PMID: 28216146; PMCID: PMC5355568.
      Citations: 5     Fields:    Translation:HumansCells
    274. Guerrero N, Akdemir ZC, Jhangiani SN, Watkin LB, Chinn IK, Lupski JR, Orange JS, Pedroza LA, Stray-Pedersen A, Tafur C, Macias R, Mu?oz G. First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis. Front Pediatr. 2017; 5:17. PMID: 28239602; PMCID: PMC5300990.
      Citations: 4     
    275. Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Khan K, Sacharow S, Glaser K, Cho MT, Roeder E, Monaghan KG, Yuan B, Xia F, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Nugent KM, Gibson JB, Lupski JR, Stessman HAF, Eichler EE, Retterer K, Yang Y, Katsanis N, Rosenfeld JA, Golzio C, Stankiewicz P, K?ry S, Besnard T, Ebstein F, Lehmann A, Latypova X, Pacault M, Bieth E, Perrin-Sabourin L, Jacquemont ML, Denomm?-Pichon AS, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Brice?o I, G?mez A, Cogn? B, Redon R, Kloetzel PM, B?zieau S, Isidor B. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363. PMID: 28132691; PMCID: PMC5294671.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    276. Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351. PMID: 28132692; PMCID: PMC5294886.
      Citations: 20     Fields:    Translation:HumansCells
    277. Harms FL, Girisha KM, Hardigan AA, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Lupski JR, Myers RM, Cooper GM, Kutsche K, Kort?m F, B?zieau S, Cogn? B, Isidor B, K?ry S. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet. 2017 Jan 05; 100(1):117-127. PMID: 28017373; PMCID: PMC5223027.
      Citations: 32     Fields:    Translation:HumansCells
    278. Yoon WH, Sandoval H, Nagarkar-Jaiswal S, Jaiswal M, Yamamoto S, Haelterman NA, Putluri N, Putluri V, Sreekumar A, Tos T, Aksoy A, Donti T, Graham BH, Ohno M, Nishi E, Hunter J, Muzny DM, Carmichael J, Shen J, Arboleda VA, Nelson SF, Wangler MF, Karaca E, Lupski JR, Bellen HJ. Loss of Nardilysin, a Mitochondrial Co-chaperone for a-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 Jan 04; 93(1):115-131. PMID: 28017472; PMCID: PMC5242142.
      Citations: 55     Fields:    Translation:AnimalsCells
    279. Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 01 05; 376(1):21-31. PMID: 27959697; PMCID: PMC5335876.
      Citations: 254     Fields:    Translation:Humans
    280. Nilsson D, Pettersson M, Gustavsson P, Hofmeister W, Wincent J, Zachariadis V, Anderlid BM, Nordgren A, Wirta V, Vezzi F, Lupski JR, Lundberg ES, Carvalho CMB, Lindstrand A, F?rster A, M?kitie O, K?ller M, Nordenskj?ld M. Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Hum Mutat. 2017 02; 38(2):180-192. PMID: 27862604; PMCID: PMC5225243.
      Citations: 24     Fields:    Translation:HumansCells
    281. Mace EM, Bigley V, Gunesch JT, Chinn IK, Angelo LS, Care MA, Maisuria S, Keller MD, Togi S, Watkin LB, LaRosa DF, Jhangiani SN, Muzny DM, Coban Akdemir Z, Smith JB, Le DT, Hogg GD, Cao TN, Freud AG, Szymanski EP, Savic S, Collin M, Cant AJ, Gibbs RA, Holland SM, Caligiuri MA, Ozato K, Paust S, Doody GM, Lupski JR, Orange JS, Stray-Pedersen A, Hern?ndez-Sanabria M. Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest. 2017 01 03; 127(1):306-320. PMID: 27893462; PMCID: PMC5199714.
      Citations: 36     Fields:    Translation:HumansAnimalsCells
    282. Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, Stankiewicz P, Lupski JR, Magri?? MA. Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov; 12(11):e1006446. PMID: 27880765; PMCID: PMC5120786.
      Citations: 23     Fields:    Translation:HumansCells
    283. Loviglio MN, Beck CR, White JJ, Harel T, Guex N, Niknejad A, Bi W, Chen ES, Crespo I, Yan J, Charng WL, Gu S, Fang P, Coban-Akdemir Z, Shaw CA, Jhangiani SN, Muzny DM, Gibbs RA, Xenarios I, Lupski JR, Reymond A, Leleu M, Rougemont J. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med. 2016 11 01; 8(1):105. PMID: 27799067; PMCID: PMC5088687.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    284. Polfus LM, Boerwinkle E, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Grove M, Shete S, Wallace S, Milewicz D, Hanchard N, Lupski JR, Hashmi SS, Gupta-Malhotra M. Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel ?-subunit in a case of early-onset phenotype of Liddle syndrome. Cold Spring Harb Mol Case Stud. 2016 11; 2(6):a001255. PMID: 27900368; PMCID: PMC5111009.
      Citations: 4     Fields:    Translation:Humans
    285. Eldomery MK, Akdemir ZC, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR, V?gtle FN. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106. PMID: 27799064; PMCID: PMC5088683.
      Citations: 19     Fields:    Translation:HumansCells
    286. Karolak JA, Gambin T, Pitarque JA, Molinari A, Jhangiani S, Stankiewicz P, Lupski JR, Gajecka M. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet. 2017 01; 25(1):73-78. PMID: 27703147; PMCID: PMC5159765.
      Citations: 7     Fields:    Translation:HumansCells
    287. Ma L, Bayram Y, McLaughlin HM, Cho MT, Krokosky A, Turner CE, Lindstrom K, Bupp CP, Mayberry K, Mu W, Bodurtha J, Weinstein V, Zadeh N, Alcaraz W, Shao Y, Scott DA, Lewis AM, White JJ, Jhangiani SN, Gulec EY, Lalani SR, Lupski JR, Retterer K, Schnur RE, Wentzensen IM, Bale S, Chung WK, Powis Z. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet. 2016 12; 135(12):1399-1409. PMID: 27681385; PMCID: PMC5663278.
      Citations: 12     Fields:    Translation:HumansCells
    288. Posey JE, Martinez R, Lankford JE, Lupski JR, Numan MT, Butler IJ. Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance. Pediatr Neurol. 2017 01; 66:53-58.e5. PMID: 27773421; PMCID: PMC5209259.
      Citations: 1     Fields:    Translation:Humans
    289. Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420. PMID: 27657687; PMCID: PMC5362362.
      Citations: 36     Fields:    Translation:Humans
    290. Sorte HS, Osnes LT, Erichsen HC, Backe PH, Abrahamsen TG, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZH, Gibbs RA, Lyle R, Lupski JR, Fevang B, Aukrust P, Kittang OB, ?verland T, R?dningen OK, Stray-Pedersen A. A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction. Mol Genet Genomic Med. 2016 Nov; 4(6):604-616. PMID: 27896283; PMCID: PMC5118205.
      Citations: 28     Fields:    
    291. Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E, Baylor-Hopkins Center for Mendelian Genomics, University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845. PMID: 27640307; PMCID: PMC5065660.
      Citations: 73     Fields:    Translation:HumansAnimalsCells
    292. Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 06; 99(4):886-893. PMID: 27616478; PMCID: PMC5065643.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    293. Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Coban Akdemir ZH, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G. GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. Am J Hum Genet. 2016 09 01; 99(3):786. PMID: 27588455; PMCID: PMC5011071.
      Citations: 5     Fields:    
    294. Scott DA, Hernandez-Garcia A, Azamian MS, Jordan VK, Kim BJ, Starkovich M, Zhang J, Wong LJ, Darilek SA, Breman AM, Yang Y, Lupski JR, Jiwani AK, Das B, Lalani SR, Iglesias AD, Rosenfeld JA, Xia F. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet. 2017 01; 54(1):47-53. PMID: 27550220.
      Citations: 5     Fields:    Translation:Humans
    295. Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G, Boualla L, Ratbi I. GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. Am J Hum Genet. 2016 09 01; 99(3):704-710. PMID: 27523599; PMCID: PMC5010642.
      Citations: 18     Fields:    Translation:HumansAnimals
    296. Lindstrand A, Frangakis S, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N, Carvalho CM. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 08 04; 99(2):318-36. PMID: 27486776; PMCID: PMC4974085.
      Citations: 45     Fields:    Translation:HumansAnimals
    297. Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016 07 19; 9(1):42. PMID: 27435318; PMCID: PMC4950750.
      Citations: 38     Fields:    Translation:Humans
    298. Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Abrahamsen TG, Bechensteen AG, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Karaca E, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR, Stray-Pedersen A, Sorte HS, R?dningen OK, Fevang B, Aukrust P, Tj?nnfjord GE, Nord?y I, J?rgensen SF, ?verland T, Skogen V, Franco JL, Trujillo Vargas CM, Cancrini C, Holmberg E, West C, Burstedt M, Yesil G, Flat? B. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245. PMID: 27577878; PMCID: PMC5222743.
      Citations: 99     Fields:    Translation:Humans
    299. Yu H, Zhang VW, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ, Stray-Pedersen A. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol. 2016 10; 138(4):1142-1151.e2. PMID: 27484032.
      Citations: 26     Fields:    Translation:Humans
    300. Macias A, Gambin T, Szafranski P, Jhangiani SN, Kolasa A, Obersztyn E, Lupski JR, Stankiewicz P, Kaminska A. CAV3 mutation in a patient with transient hyperCKemia and myalgia. Neurol Neurochir Pol. 2016 Nov - Dec; 50(6):468-473. PMID: 27772553.
      Citations: 4     Fields:    Translation:Humans
    301. Yuan B, Neira J, Gu S, Harel T, Liu P, Elsea SH, Potocki L, Lupski JR, Brice?o I, G?mez A. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet. 2016 10; 135(10):1161-74. PMID: 27386852; PMCID: PMC5021589.
      Citations: 2     Fields:    Translation:HumansCells
    302. Szafranski P, Coban-Akdemir ZH, Rupps R, Grazioli S, Wensley D, Jhangiani SN, Popek E, Lee AF, Lupski JR, Boerkoel CF, Stankiewicz P. Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016 09; 170(9):2440-4. PMID: 27374786.
      Citations: 16     Fields:    Translation:HumansCells
    303. Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845. PMID: 27159400; PMCID: PMC4979321.
      Citations: 87     Fields:    Translation:HumansAnimalsCells
    304. Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A. Two male sibs with severe micrognathia and a missense variant in MED12. Eur J Med Genet. 2016 Aug; 59(8):367-72. PMID: 27286923.
      Citations: 3     Fields:    Translation:Humans
    305. Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Kapur S, Caimari F, Evanson J, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Vance ML, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes MB, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Hern?ndez-Ram?rez LC, Ferra? F, Rodd C, Ram?rez-Renteria C, Mercado M, Korbonits M. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun. 2016 06 01; 4(1):56. PMID: 27245663; PMCID: PMC4888203.
      Citations: 26     Fields:    Translation:Humans
    306. Lupski JR. Clinical genomics: from a truly personal genome viewpoint. Hum Genet. 2016 06; 135(6):591-601. PMID: 27221143.
      Citations: 11     Fields:    Translation:Humans
    307. Fieremans N, Van Esch H, Holvoet M, Van Goethem G, Devriendt K, Rosello M, Mayo S, Martinez F, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Vermeesch JR, Marynen P, Froyen G. Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum Mutat. 2016 08; 37(8):804-11. PMID: 27159028; PMCID: PMC4940233.
      Citations: 26     Fields:    Translation:Humans
    308. Sajan SA, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Glaze DG, Kaufmann WE, Skinner SA, Annese F, Friez MJ, Lane J, Percy AK, Neul JL. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med. 2017 01; 19(1):13-19. PMID: 27171548; PMCID: PMC5107176.
      Citations: 34     Fields:    Translation:HumansCells
    309. Yuan B, Liu P, Rogers J, Lupski JR. Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization. Genom Data. 2016 Jun; 8:106-9. PMID: 27222811; PMCID: PMC4872932.
      Citations:    
    310. Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Chung BH, Wong WL, Chu YWY, Mok GTK, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Brosens E, Tibboel D, de Klein A, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Menten B, Chawla J, Payton DJ, Phillips GE, Maystadt I. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586. PMID: 27071622; PMCID: PMC5518754.
      Citations: 37     Fields:    Translation:HumansCells
    311. Gawlinski P, Posmyk R, Gambin T, Sielicka D, Chorazy M, Nowakowska B, Jhangiani SN, Muzny DM, Bekiesinska-Figatowska M, Bal J, Boerwinkle E, Gibbs RA, Lupski JR, Wiszniewski W. PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol. 2016 07; 60:83-7. PMID: 27343026; PMCID: PMC5125779.
      Citations: 9     Fields:    Translation:Humans
    312. Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IALM, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, RoaFuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Hens G, Schoenaers J, Poorten VV, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LELM, Lupski JR, de Ligt J, Von den Hoff JW, Pfundt R, Brunner HG, Zhou H, Dixon J, Mangold E, van Bokhoven H, Dixon MJ, Kleefstra T, Hoischen A, Carels CEL, Berg? S. Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genet Med. 2016 11; 18(11):1158-1162. PMID: 26963285; PMCID: PMC5018235.
      Citations: 28     Fields:    Translation:HumansCells
    313. Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 06 01; 25(11):2331-2341. PMID: 26965164; PMCID: PMC5081047.
      Citations: 18     Fields:    Translation:HumansCells
    314. Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E, Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570. PMID: 26942288; PMCID: PMC4800043.
      Citations: 37     Fields:    Translation:HumansCells
    315. Daly AF, Yuan B, Caberg JH, Trivellin G, Rostomyan L, de Herder WW, Naves LA, Metzger D, Cuny T, Shah N, Jaffrain-Rea ML, Zatelli MC, Faucz FR, Castermans E, Lodish M, Muhammad A, Palmeira L, Potorac I, Mantovani G, Neggers SJ, Klein M, Barlier A, Bours V, Lupski JR, Stratakis CA, Beckers A, Fina F, Rabl W, Nanni-Metellus I, Liu P, Ouafik L. Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. Endocr Relat Cancer. 2016 04; 23(4):221-33. PMID: 26935837; PMCID: PMC4877443.
      Citations: 18     Fields:    Translation:Humans
    316. Carvalho CM, Lupski JR. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. 2016 Apr; 17(4):224-38. PMID: 26924765; PMCID: PMC4827625.
      Citations: 246     Fields:    Translation:HumansCells
    317. White JJ, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, van Bon BWM, Sutton VR, Lupski JR, Brunner HG, Carvalho CMB, Mazzeu JF. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 03; 98(3):553-561. PMID: 26924530; PMCID: PMC4800044.
      Citations: 39     Fields:    Translation:HumansCells
    318. Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18; 7:10713. PMID: 26888176; PMCID: PMC4759630.
      Citations: 77     Fields:    Translation:Humans
    319. James RA, Campbell IM, Chen ES, Boone PM, Rao MA, Bainbridge MN, Lupski JR, Yang Y, Eng CM, Posey JE, Shaw CA. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics. Genome Med. 2016 Feb 02; 8(1):13. PMID: 26838676; PMCID: PMC4736244.
      Citations: 18     Fields:    Translation:Humans
    320. Caulfield T, Griffin JL, Khoury MJ, Lupski JR, Schwab M, Auffray C. From genomic medicine to precision medicine: highlights of 2015. Genome Med. 2016 Jan 29; 8(1):12. PMID: 26825779; PMCID: PMC4733269.
      Citations: 12     Fields:    Translation:HumansPHPublic Health
    321. Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57. PMID: 26805781; PMCID: PMC4746334.
      Citations: 35     Fields:    Translation:HumansCells
    322. Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, Pehlivan D, Jhangiani SN, Muzny DM, Karaman A, Celik T, Yuregir OO, Yildirim T, Bayhan IA, Boerwinkle E, Gibbs RA, Elcioglu N, Tuysuz B, Lupski JR. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest. 2016 Feb; 126(2):762-78. PMID: 26752647; PMCID: PMC4731160.
      Citations: 36     Fields:    Translation:HumansCTClinical Trials
    323. White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR, Powis Z. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 06; 8(1):3. PMID: 26739615; PMCID: PMC4702300.
      Citations: 37     Fields:    Translation:Humans
    324. Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, Ling H, Liu Y, Lupski JR, Muzny D, Porter P, Pugh E, White J, Doheny K, Myers RM, Shulman JM, Foroud T. Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 Jan; 73(1):68-75. PMID: 26595808; PMCID: PMC4946647.
      Citations: 33     Fields:    Translation:Humans
    325. Campbell IM, Gambin T, Jhangiani S, Grove ML, Veeraraghavan N, Muzny DM, Shaw CA, Gibbs RA, Boerwinkle E, Yu F, Lupski JR. Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat. 2016 Mar; 37(3):231-234. PMID: 26670213; PMCID: PMC4752396.
      Citations: 14     Fields:    Translation:Humans
    326. Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Erratum to: Somatic Mosaicism: Implications for Disease and Transmission Genetics. Trends Genet. 2016 02; 32(2):138. PMID: 29482722.
      Citations: 4     Fields:    
    327. Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD, Care4Rare Canada Consortium, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Ren D, Yoon G, Stray-Pedersen A, Gerstner T, Aslaksen K, T?treault M. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 07; 98(1):202-9. PMID: 26708751; PMCID: PMC4716670.
      Citations: 25     Fields:    Translation:Humans
    328. Zuccherato LW, Alleva B, Whiters MA, Carvalho CM, Lupski JR. Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet. 2016 Feb; 135(2):253-6. PMID: 26667017; PMCID: PMC5485664.
      Citations: 4     Fields:    Translation:HumansCells
    329. Yuan B, Liu P, Gupta A, Beck CR, Tejomurtula A, Campbell IM, Gambin T, Simmons AD, Withers MA, Harris RA, Rogers J, Schwartz DC, Lupski JR. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet. 2015 Dec; 11(12):e1005686. PMID: 26641089; PMCID: PMC4671654.
      Citations: 14     Fields:    Translation:HumansAnimals
    330. Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85. PMID: 26633545; PMCID: PMC4892996.
      Citations: 94     Fields:    Translation:Humans
    331. Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 03; 97(6):904-13. PMID: 26637980; PMCID: PMC4678788.
      Citations: 32     Fields:    Translation:HumansCells
    332. Gu S, Posey JE, Yuan B, Carvalho CM, Luk HM, Erikson K, Lo IF, Leung GK, Pickering CR, Chung BH, Lupski JR. Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. Hum Mutat. 2016 Feb; 37(2):160-4. PMID: 26549411; PMCID: PMC4718869.
      Citations: 9     Fields:    Translation:HumansCells
    333. Yuan B, Trivellin G, Liu P, Pellegata NS, Stratakis CA, Lupski JR, Naves LA, Daly AF, Dias LA, Zakir JC, Barra GB, Palmeira L, Villa C, J?nior AJ, Neto FF, Beckers A. Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome. Endocrine. 2016 Feb; 51(2):236-44. PMID: 26607152; PMCID: PMC5497487.
      Citations: 14     Fields:    Translation:Humans
    334. Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2016 Jan; 4(1):77-94. PMID: 26788539; PMCID: PMC4707028.
      Citations: 15     Fields:    
    335. Yuan B, Harel T, Gu S, Liu P, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Magoulas PL, Potocki L, Lupski JR, Burglen L, Chantot-Bastaraud S, Malan V, Munnich A. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 Nov 05; 97(5):691-707. PMID: 26544804; PMCID: PMC4667131.
      Citations: 19     Fields:    Translation:HumansCells
    336. Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikasifoglu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 04; 88(3):499-513. PMID: 26539891; PMCID: PMC4824012.
      Citations: 111     Fields:    Translation:Humans
    337. Lee W, Xie Y, Zernant J, Yuan B, Bearelly S, Tsang SH, Lupski JR, Allikmets R. Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes. Hum Genet. 2016 Jan; 135(1):9-19. PMID: 26527198; PMCID: PMC4699863.
      Citations: 22     Fields:    Translation:Humans
    338. Zazo Seco C, van Nierop JW, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J, Baylor-Hopkins Center for Mendelian Genomics, van Reeuwijk J, Lelieveld SH, Huygen PL, Admiraal RJ, Pennings RJ, Hoefsloot LH, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Kunst HP, Kremer H, Serr?o de Castro L, Mor?n M, Insenser M, Arias-V?squez A, Moreno-Pelayo MA. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet. 2015 Nov 05; 97(5):647-60. PMID: 26522471; PMCID: PMC4667106.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    339. Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Lupski JR, Czesnik D, Sereda MW. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 05; 18(5):443-51. PMID: 26378787; PMCID: PMC5322766.
      Citations: 11     Fields:    Translation:HumansCells
    340. de Leeuw N, Pfundt R, Nillesen WM, de Ligt J, Gilissen C, Jhangiani S, Lupski JR, Cremers FP, de Vries BB, Bosch DG, Boonstra FN. Novel genetic causes for cerebral visual impairment. Eur J Hum Genet. 2016 May; 24(5):660-5. PMID: 26350515; PMCID: PMC4930090.
      Citations: 51     Fields:    Translation:Humans
    341. Nageshappa S, Carromeu C, Trujillo CA, Mesci P, Pasciuto E, Verfaillie CM, Raitano S, Kumar A, Carvalho CM, Bagni C, Ramocki MB, Araujo BH, Torres LB, Lupski JR, Van Esch H, Muotri AR, Espuny-Camacho I, Vanderhaeghen P. Altered neuronal network and rescue in a human MECP2 duplication model. Mol Psychiatry. 2016 Feb; 21(2):178-88. PMID: 26347316; PMCID: PMC4720528.
      Citations: 46     Fields:    Translation:HumansCells
    342. Mayle R, Campbell IM, Beck CR, Yu Y, Wilson M, Shaw CA, Bjergbaek L, Lupski JR, Ira G. DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage. Science. 2015 Aug 14; 349(6249):742-7. PMID: 26273056; PMCID: PMC4782627.
      Citations: 108     Fields:    Translation:HumansAnimalsCells
    343. Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM, Baylor-Hopkins Center for Mendelian Genomics, Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR, Koenig M. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 Aug 18; 12(7):1169-83. PMID: 26257172; PMCID: PMC4545408.
      Citations: 120     Fields:    Translation:HumansAnimals
    344. Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR, Baylor-Hopkins Center for Mendelian Genomics. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2795-9. PMID: 26238661; PMCID: PMC4837953.
      Citations: 20     Fields:    Translation:HumansCells
    345. Veltman JA, Lupski JR. From genes to genomes in the clinic. Genome Med. 2015; 7(1):78. PMID: 26221187; PMCID: PMC4517556.
      Citations: 7     Fields:    
    346. Tuysuz B, Pehlivan D, Jhangiani S, Yalcinkaya C, Muzny DM, Lupski JR, Gibbs R, Jaeken J, ?zk?k A, Zeybek ?A. Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. JIMD Rep. 2016; 26:7-12. PMID: 26219881; PMCID: PMC4864711.
      Citations: 5     
    347. Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA, Centers for Mendelian Genomics, Bamshad MJ, L?pez-Gir?ldez F. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 Aug 06; 97(2):199-215. PMID: 26166479; PMCID: PMC4573249.
      Citations: 272     Fields:    Translation:Humans
    348. Zhang F, Lupski JR. Non-coding genetic variants in human disease. Hum Mol Genet. 2015 Oct 15; 24(R1):R102-10. PMID: 26152199; PMCID: PMC4572001.
      Citations: 168     Fields:    Translation:HumansAnimalsCells
    349. Lee IS, Carvalho CM, Douvaras P, Ho SM, Hartley BJ, Zuccherato LW, Ladran IG, Siegel AJ, McCarthy S, Malhotra D, Sebat J, Rapoport J, Fossati V, Lupski JR, Levy DL, Brennand KJ. Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells. NPJ Schizophr. 2015 Jun 24; 1. PMID: 26985448; PMCID: PMC4789165.
      Citations: 28     
    350. Gambin T, Jhangiani SN, Below JE, Campbell IM, Wiszniewski W, Muzny DM, Staples J, Morrison AC, Bainbridge MN, Penney S, McGuire AL, Gibbs RA, Lupski JR, Boerwinkle E. Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med. 2015; 7(1):54. PMID: 26195989; PMCID: PMC4507324.
      Citations: 29     Fields:    
    351. Lodish MB, Yuan B, Levy I, Braunstein GD, Lyssikatos C, Salpea P, Szarek E, Karageorgiadis AS, Belyavskaya E, Raygada M, Faucz FR, Izzat L, Brain C, Gardner J, Quezado M, Carney JA, Lupski JR, Stratakis CA. Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations. Eur J Endocrinol. 2015 06; 172(6):803-11. PMID: 25924874; PMCID: PMC4428149.
      Citations: 20     Fields:    Translation:Humans
    352. Lupski JR. Cognitive phenotypes and genomic copy number variations. JAMA. 2015 May 26; 313(20):2029-30. PMID: 26010630; PMCID: PMC4465197.
      Citations: 8     Fields:    Translation:Humans
    353. Ramasamy R, Bakircioglu ME, Cengiz C, Karaca E, Scovell J, Jhangiani SN, Akdemir ZC, Bainbridge M, Yu Y, Huff C, Gibbs RA, Lupski JR, Lamb DJ. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril. 2015 Aug; 104(2):286-91. PMID: 25956372; PMCID: PMC4522373.
      Citations: 21     Fields:    Translation:HumansCells
    354. Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 Jul 15; 24(14):4061-77. PMID: 25908615; PMCID: PMC4476451.
      Citations: 51     Fields:    Translation:HumansCells
    355. Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 2015 Jul; 31(7):382-92. PMID: 25910407; PMCID: PMC4490042.
      Citations: 103     Fields:    Translation:HumansAnimalsCells
    356. Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C, Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK, Stray-Pedersen A. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun; 47(6):654-60. PMID: 25894502; PMCID: PMC4513663.
      Citations: 107     Fields:    Translation:HumansCells
    357. Pehlivan D, Coban Akdemir Z, Karaca E, Bayram Y, Jhangiani S, Yildiz EP, Muzny D, Uluc K, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, Elcioglu N, Lupski JR, Harel T. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 Jun; 134(6):671-3. PMID: 25893792; PMCID: PMC4426057.
      Citations: 8     Fields:    Translation:Humans
    358. Lupski JR. Structural variation mutagenesis of the human genome: Impact on disease and evolution. Environ Mol Mutagen. 2015 06; 56(5):419-36. PMID: 25892534; PMCID: PMC4609214.
      Citations: 60     Fields:    Translation:HumansAnimals
    359. English AC, Salerno WJ, Hampton OA, Gonzaga-Jauregui C, Ambreth S, Ritter DI, Beck CR, Davis CF, Dahdouli M, Ma S, Carroll A, Veeraraghavan N, Bruestle J, Drees B, Hastie A, Lam ET, White S, Mishra P, Wang M, Han Y, Zhang F, Stankiewicz P, Wheeler DA, Reid JG, Muzny DM, Rogers J, Sabo A, Worley KC, Lupski JR, Boerwinkle E, Gibbs RA. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 Apr 11; 16:286. PMID: 25886820; PMCID: PMC4490614.
      Citations: 79     Fields:    Translation:Humans
    360. Bayram Y, Aydin H, Gambin T, Akdemir ZC, Atik MM, Karaca E, Karaman A, Pehlivan D, Jhangiani SN, Gibbs RA, Lupski JR. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Am J Med Genet A. 2015 Sep; 167A(9):2132-7. PMID: 25846457; PMCID: PMC4545386.
      Citations: 5     Fields:    Translation:Humans
    361. White J, Hoischen A, Jhangiani SN, Gambin T, Penney S, Hove H, Skovby F, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Mazzeu JF, Alcino MC, Saraiva JM, Kayserili H, Carvalho CM. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 02; 96(4):612-22. PMID: 25817016; PMCID: PMC4385180.
      Citations: 54     Fields:    Translation:HumansCells
    362. Kinoshita T, Jhangiani S, de Ligt J, Cremers FP, Lupski JR, Murakami Y, de Vries BB, Bosch DG, Boonstra FN. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet. 2015 Dec; 23(12):1689-93. PMID: 25804403; PMCID: PMC4795198.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    363. Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MV, Liu P, Johnson D, Stankiewicz P, Brown CW, Shaw CA, Hurles ME, Ira G, Hastings PJ, Brunner HG, Lupski JR, Carvalho CM, DDD?Study. Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet. 2015 Apr 02; 96(4):555-64. PMID: 25799105; PMCID: PMC4385179.
      Citations: 27     Fields:    Translation:HumansCells
    364. Wang M, Beck CR, English AC, Meng Q, Buhay C, Han Y, Doddapaneni HV, Yu F, Boerwinkle E, Lupski JR, Muzny DM, Gibbs RA. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics. 2015 Mar 19; 16:214. PMID: 25887218; PMCID: PMC4376517.
      Citations: 27     Fields:    Translation:Humans
    365. Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR, Bayram Y. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 May; 100(5):E808-14. PMID: 25774885; PMCID: PMC4422898.
      Citations: 9     Fields:    Translation:Humans
    366. Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Seeman P, Garbern JY, Hobson GM, Lupski JR, Henneke M. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet. 2015 Mar; 11(3):e1005050. PMID: 25749076; PMCID: PMC4352052.
      Citations: 33     Fields:    Translation:Humans
    367. Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, Scott DA. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015 Apr; 167A(4):831-6. PMID: 25736269; PMCID: PMC4522925.
      Citations: 13     Fields:    Translation:Humans
    368. Beckers A, Lodish MB, Trivellin G, Rostomyan L, Lee M, Faucz FR, Yuan B, Choong CS, Caberg JH, Verrua E, Naves LA, Cheetham TD, Young J, Lysy PA, Petrossians P, Cotterill A, Shah NS, Metzger D, Castermans E, Ambrosio MR, Villa C, Strebkova N, Mazerkina N, Gaillard S, Barra GB, Casulari LA, Neggers SJ, Salvatori R, Jaffrain-Rea ML, Zacharin M, Santamaria BL, Zacharieva S, Lim EM, Mantovani G, Zatelli MC, Collins MT, Bonneville JF, Quezado M, Chittiboina P, Oldfield EH, Bours V, Liu P, W de Herder W, Pellegata N, Lupski JR, Daly AF, Stratakis CA. X-linked acrogigantism syndrome: clinical profile and therapeutic responses. Endocr Relat Cancer. 2015 Jun; 22(3):353-67. PMID: 25712922; PMCID: PMC4433400.
      Citations: 50     Fields:    Translation:HumansCells
    369. Xie YA, Gambin T, Zernant J, Jhangiani S, Muzny D, Yuan B, Boerwinkle E, Gibbs R, Lupski JR, Ayuso C, Allikmets R, Riveiro-?lvarez R, L?pez-Mart?nez M?, P?rez-Carro R, ?vila-Fern?ndez A, L?pez-Molina MI. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 Feb; 133(2):133-9. PMID: 25356532; PMCID: PMC4351871.
      Citations: 16     Fields:    Translation:Humans
    370. Yauk CL, Aardema MJ, Benthem Jv, Bishop JB, Dearfield KL, DeMarini DM, Dubrova YE, Honma M, Lupski JR, Marchetti F, Meistrich ML, Pacchierotti F, Stewart J, Waters MD, Douglas GR. Approaches for identifying germ cell mutagens: Report of the 2013 IWGT workshop on germ cell assays(?). Mutat Res Genet Toxicol Environ Mutagen. 2015 May 01; 783:36-54. PMID: 25953399.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    371. Yuan B, Pehlivan D, Karaca E, Patel N, Charng WL, Gambin T, Gonzaga-Jauregui C, Sutton VR, Yesil G, Bozdogan ST, Tos T, Koparir A, Koparir E, Beck CR, Gu S, Aslan H, Yuregir OO, Al Rubeaan K, Alnaqeb D, Alshammari MJ, Bayram Y, Atik MM, Aydin H, Geckinli BB, Seven M, Ulucan H, Fenercioglu E, Ozen M, Jhangiani S, Muzny DM, Boerwinkle E, Tuysuz B, Alkuraya FS, Gibbs RA, Lupski JR. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb; 125(2):636-51. PMID: 25574841; PMCID: PMC4319410.
      Citations: 72     Fields:    Translation:HumansCellsCTClinical Trials
    372. Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Chen Y, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015 Jan 22; 372(4):341-50. PMID: 25564734; PMCID: PMC4326244.
      Citations: 121     Fields:    Translation:HumansCells
    373. Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015 Jan; 100(1):E140-7. PMID: 25322266; PMCID: PMC4283017.
      Citations: 22     Fields:    Translation:Humans
    374. Collison FT, Xie YA, Gambin T, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Fishman GA, Allikmets R. Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. Ophthalmic Genet. 2015; 36(3):270-5. PMID: 25687216; PMCID: PMC4539287.
      Citations: 9     Fields:    Translation:Humans
    375. Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA, Leal LF, Kamenick? P. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med. 2014 Dec 18; 371(25):2363-74. PMID: 25470569; PMCID: PMC4291174.
      Citations: 96     Fields:    Translation:HumansCells
    376. Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, Muzny DM, Gibbs RA, Campbell IM, Shaw CA, Baker MW, Zhang V, Lupski JR, Orange JS, Seeborg FO, Stray-Pedersen A. Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray. Clin Exp Immunol. 2014 Dec; 178(3):459-69. PMID: 25046553; PMCID: PMC4238873.
      Citations: 25     Fields:    Translation:HumansCellsPHPublic Health
    377. de Ligt J, Boone PM, Pfundt R, Vissers LE, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing. Genom Data. 2014 Dec; 2:144-146. PMID: 26258046; PMCID: PMC4526866.
      Citations: 6     
    378. Chen L, Zhou W, Zhang C, Lupski JR, Jin L, Zhang F. CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis. Hum Mol Genet. 2015 Mar 15; 24(6):1574-83. PMID: 25398944; PMCID: PMC4381758.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    379. Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9. PMID: 25326635; PMCID: PMC4326249.
      Citations: 588     Fields:    Translation:Humans
    380. Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte AB, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, Katsanis N, Lupski JR, Carvalho CM, Vianna-Morgante AM, Krepischi AC, Rosenberg C. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet. 2014 Nov 06; 95(5):565-78. PMID: 25439725; PMCID: PMC4225592.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    381. Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83. PMID: 25439098; PMCID: PMC4225583.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    382. Liu P, Kaplan A, Yuan B, Hanna JH, Lupski JR, Reiner O. Passage number is a major contributor to genomic structural variations in mouse iPSCs. Stem Cells. 2014 Oct; 32(10):2657-67. PMID: 24965231; PMCID: PMC4165691.
      Citations: 25     Fields:    Translation:AnimalsCells
    383. Zernant J, Collison FT, Lee W, Fishman GA, Noupuu K, Yuan B, Cai C, Lupski JR, Yannuzzi LA, Tsang SH, Allikmets R. Genetic and clinical analysis of ABCA4-associated disease in African American patients. Hum Mutat. 2014 Oct; 35(10):1187-94. PMID: 25066811; PMCID: PMC4283973.
      Citations: 24     Fields:    Translation:Humans
    384. Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LELM, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214. PMID: 25259927; PMCID: PMC4298142.
      Citations: 168     Fields:    Translation:HumansAnimalsCells
    385. Campbell IM, Stewart JR, James RA, Lupski JR, Stankiewicz P, Olofsson P, Shaw CA. Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet. 2014 Oct 02; 95(4):345-59. PMID: 25242496; PMCID: PMC4185125.
      Citations: 43     Fields:    Translation:HumansCells
    386. Jorgez CJ, Rosenfeld JA, Wilken NR, Vangapandu HV, Sahin A, Pham D, Carvalho CM, Bandholz A, Miller A, Weaver DD, Burton B, Babu D, Bamforth JS, Wilks T, Flynn DP, Roeder E, Patel A, Cheung SW, Lupski JR, Lamb DJ. Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One. 2014; 9(9):e107028. PMID: 25203062; PMCID: PMC4159299.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    387. DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York MD, Batish SD, Lupski JR, Higgins JJ. The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. Mol Genet Genomic Med. 2014 Nov; 2(6):522-9. PMID: 25614874; PMCID: PMC4303222.
      Citations: 78     Fields:    
    388. Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 Dec 20; 23(25):6797-806. PMID: 25082829; PMCID: PMC4245042.
      Citations: 62     Fields:    Translation:Humans
    389. Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wisniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 Aug 07; 95(2):173-82. PMID: 25087610; PMCID: PMC4129404.
      Citations: 99     Fields:    Translation:HumansCells
    390. Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM. Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol. 2014 Oct; 34(7):871-90. PMID: 25073507; PMCID: PMC4386834.
      Citations: 26     Fields:    Translation:HumansCells
    391. Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Stemmler S, Lupski JR, Ord??ez-Ugalde A, Quint?ns B, Sobrido MJ. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet. 2014 Aug 07; 95(2):143-61. PMID: 25065914; PMCID: PMC4129405.
      Citations: 54     Fields:    Translation:HumansCells
    392. de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S, Choong CS, Gottardo NG, Kees UR, Rednam SP, van Hest LP, Jongmans MC, Jhangiani S, Lupski JR, Zacharin M, Huang A, Priest JR, Perry A, Mueller S, Albrecht S, Malkin D, Grundy RG, Foulkes WD, Bouron-Dal Soglio D. Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol. 2014 Oct; 128(4):583-95. PMID: 25022261; PMCID: PMC4381868.
      Citations: 47     Fields:    Translation:Humans
    393. Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D, Baylor-Hopkins Center for Mendelian Genomics, Elcioglu NH, Yildirim MS, Bozkurt B, Zamani AG, Boerwinkle E, Gibbs RA, Lupski JR. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 Sep; 164A(9):2328-34. PMID: 25045128; PMCID: PMC4332576.
      Citations: 6     Fields:    Translation:HumansCells
    394. Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT. Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 Mar; 23(3):342-6. PMID: 24986830; PMCID: PMC4326704.
      Citations: 19     Fields:    Translation:HumansCells
    395. Mir S, Penney S, Jhangiani S, Midgen C, Finegold M, Muzny DM, Wang M, Bacino CA, Gibbs RA, Lupski JR, Kellermayer R, Hanchard NA, Gonzaga-Jauregui C. Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. J Pediatr Gastroenterol Nutr. 2014 Jul; 59(1):17-21. PMID: 24614124; PMCID: PMC4203304.
      Citations: 5     Fields:    Translation:Humans
    396. Backe PH, Sorte HS, Chokshi NY, Erichsen HC, Gambin T, Wlodarski MW, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Osnes LT, Egeland T, Beck CR, Baylor-Johns Hopkins Center for Mendelian Genomics, Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC, Stray-Pedersen A, M?rkrid L, Elgst?en KB, Bj?r?s M, Kr?ger M, R?nnestad A, R?dningen OK. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 Jul 03; 95(1):96-107. PMID: 24931394; PMCID: PMC4085583.
      Citations: 63     Fields:    Translation:Humans
    397. Xie YA, Lee W, Cai C, Gambin T, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R, N?upuu K. New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. Hum Mol Genet. 2014 Nov 01; 23(21):5774-80. PMID: 24916380; PMCID: PMC4189905.
      Citations: 18     Fields:    Translation:Humans
    398. Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A, UK10K, Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR, Spranger J, Horn D. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 05; 94(6):915-23. PMID: 24906020; PMCID: PMC4121478.
      Citations: 44     Fields:    Translation:HumansAnimalsCells
    399. Carvalho CM, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AA. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014 Jun 04; 15:64. PMID: 24898207; PMCID: PMC4057820.
      Citations: 2     Fields:    Translation:HumansCells
    400. Harel T, Lupski JR. Charcot-Marie-Tooth disease and pathways to molecular based therapies. Clin Genet. 2014 Nov; 86(5):422-31. PMID: 24697164.
      Citations: 11     Fields:    Translation:HumansAnimals
    401. Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 01; 94(5):784-9. PMID: 24791903; PMCID: PMC4067559.
      Citations: 29     Fields:    Translation:Humans
    402. Prada CE, Gonzaga-Jauregui C, Tannenbaum R, Penney S, Lupski JR, Hopkin RJ, Sutton VR. Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet. 2014 Jul; 57(7):339-344. PMID: 24769197; PMCID: PMC4065856.
      Citations: 12     Fields:    Translation:Humans
    403. Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M, Baylor Hopkins Center for Mendelian Genomics, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24; 157(3):636-50. PMID: 24766809; PMCID: PMC4146440.
      Citations: 104     Fields:    Translation:HumansAnimalsCells
    404. Lindstrand A, Davis EE, Pehlivan D, Willer JR, Tsai IC, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, Clark R, Katsanis N, Carvalho CM. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 01; 94(5):745-54. PMID: 24746959; PMCID: PMC4067552.
      Citations: 38     Fields:    Translation:HumansAnimals
    405. Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S, Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Lupski JR, Beaudet A. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar; 10(3):e1004258. PMID: 24676022; PMCID: PMC3967950.
      Citations: 50     Fields:    Translation:Humans
    406. Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, DiVincenzo C, Burnette WB, Higgins JJ, Li J, Orr-Urtreger A, Lupski JR. Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am J Hum Genet. 2014 Mar 06; 94(3):462-9. PMID: 24530202; PMCID: PMC3951935.
      Citations: 28     Fields:    Translation:HumansCells
    407. Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, Baylor-Hopkins Center for Mendelian Genomics, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP, Bosch DG, Boonstra FN. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 06; 94(2):303-9. PMID: 24462372; PMCID: PMC3928641.
      Citations: 39     Fields:    Translation:HumansCells
    408. Soler-Alfonso C, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP, Carvalho CM. CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. Eur J Hum Genet. 2014 Sep; 22(9):1071-6. PMID: 24424125; PMCID: PMC4135413.
      Citations: 19     Fields:    Translation:HumansCells
    409. Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, Bilge Geckinli B, Karaman A, Jhangiani SN, Centers for Mendelian Genomics, Gibbs RA, Lupski JR. Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. Eur J Hum Genet. 2014 Sep; 22(9):1145-8. PMID: 24424126; PMCID: PMC4135405.
      Citations: 10     Fields:    Translation:Humans
    410. Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug; 22(8):969-78. PMID: 24398791; PMCID: PMC4350600.
      Citations: 23     Fields:    Translation:HumansCells
    411. Klassen TL, Bomben VC, Patel A, Drabek J, Chen TT, Gu W, Zhang F, Chapman K, Lupski JR, Noebels JL, Goldman AM. High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile. Epilepsia. 2014 Feb; 55(2):e6-12. PMID: 24372310; PMCID: PMC4195652.
      Citations: 39     Fields:    Translation:HumansCells
    412. Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L. Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. Am J Med Genet A. 2014 Feb; 164A(2):500-4. PMID: 24311450.
      Citations: 9     Fields:    Translation:HumansCells
    413. Gonzaga-Jauregui C, Lotze T, Jamal L, Penney S, Campbell IM, Pehlivan D, Hunter JV, Woodbury SL, Raymond G, Adesina AM, Jhangiani SN, Reid JG, Muzny DM, Boerwinkle E, Lupski JR, Gibbs RA, Wiszniewski W. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec; 70(12):1491-8. PMID: 24126608; PMCID: PMC4039291.
      Citations: 35     Fields:    Translation:Humans
    414. Euteneuer J, Carvalho CM, Kulkarni S, Vineyard M, Grady RM, Lupski JR, Shinawi M. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome. Clin Genet. 2014 Nov; 86(5):487-91. PMID: 24246242.
      Citations: 3     Fields:    Translation:HumansCells
    415. Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CMB, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, Lupski JR. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 May; 16(5):386-394. PMID: 24136616; PMCID: PMC4224029.
      Citations: 20     Fields:    Translation:HumansCells
    416. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11. PMID: 24088041; PMCID: PMC4211433.
      Citations: 821     Fields:    Translation:Humans
    417. Peters SU, Hundley RJ, Wilson AK, Carvalho CM, Lupski JR, Ramocki MB. Brief report: regression timing and associated features in MECP2 duplication syndrome. J Autism Dev Disord. 2013 Oct; 43(10):2484-90. PMID: 23456562.
      Citations: 13     Fields:    Translation:Humans
    418. Campbell IM, Rao M, Arredondo SD, Lalani SR, Xia Z, Kang SH, Bi W, Breman AM, Smith JL, Bacino CA, Beaudet AL, Patel A, Cheung SW, Lupski JR, Stankiewicz P, Ramocki MB, Shaw CA. Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. PLoS Genet. 2013; 9(9):e1003797. PMID: 24086149; PMCID: PMC3784560.
      Citations: 8     Fields:    Translation:Humans
    419. Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR, Carvalho CM. Replicative mechanisms for CNV formation are error prone. Nat Genet. 2013 Nov; 45(11):1319-26. PMID: 24056715; PMCID: PMC3821386.
      Citations: 81     Fields:    Translation:HumansCells
    420. de Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 Oct; 34(10):1439-48. PMID: 23893877.
      Citations: 54     Fields:    Translation:Humans
    421. Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore KG, Fang P, Eng CM, Willis AS. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013 Dec; 161A(12):3182-6. PMID: 23956205; PMCID: PMC3926511.
      Citations: 5     Fields:    Translation:HumansCells
    422. Lupski JR. Genetics. Genome mosaicism--one human, multiple genomes. Science. 2013 Jul 26; 341(6144):358-9. PMID: 23888031.
      Citations: 73     Fields:    Translation:Humans
    423. Green RC, Lupski JR, Biesecker LG. Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA. 2013 Jul 24; 310(4):365-6. PMID: 23917280; PMCID: PMC3963427.
      Citations: 44     Fields:    Translation:Humans
    424. Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H, K?hler G, H?ffner K. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet. 2013 Aug 08; 93(2):357-67. PMID: 23849778; PMCID: PMC3738828.
      Citations: 72     Fields:    Translation:HumansAnimalsCells
    425. Okamoto Y, Pehlivan D, Wiszniewski W, Beck CR, Snipes GJ, Lupski JR, Khajavi M. Curcumin facilitates a transitory cellular stress response in Trembler-J mice. Hum Mol Genet. 2013 Dec 01; 22(23):4698-705. PMID: 23847051; PMCID: PMC3820132.
      Citations: 21     Fields:    Translation:AnimalsCells
    426. Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA. Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. Genome Med. 2013; 5(6):57. PMID: 23806086; PMCID: PMC3706849.
      Citations: 94     Fields:    
    427. Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri NS, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210. PMID: 23810381; PMCID: PMC3738832.
      Citations: 22     Fields:    Translation:HumansCells
    428. Maizels N, Lupski JR. Molecular and genetic bases of disease. Curr Opin Genet Dev. 2013 Jun; 23(3):229-31. PMID: 23790955.
      Citations:    Fields:    Translation:HumansCells
    429. Lacaria M, Gu W, Lupski JR. Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1. Am J Med Genet A. 2013 Jul; 161A(7):1561-8. PMID: 23703963; PMCID: PMC4086898.
      Citations: 13     Fields:    Translation:HumansAnimals
    430. Wiszniewska J, Bi W, Shaw C, Stankiewicz P, Kang SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai CH, Bock HG, Descartes M, Probst FJ, Scaglia F, Beaudet AL, Lupski JR, Eng C, Cheung SW, Bacino C, Patel A. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2014 Jan; 22(1):79-87. PMID: 23695279; PMCID: PMC3865406.
      Citations: 58     Fields:    Translation:Humans
    431. Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung SW, Lalani SR, Beaudet AL, Stankiewicz P, Shaw CA, Lupski JR. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 Sep; 23(9):1383-94. PMID: 23685542; PMCID: PMC3759716.
      Citations: 35     Fields:    Translation:Humans
    432. Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P, Rodr?guez Rojas LX. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409. PMID: 23657883; PMCID: PMC3759717.
      Citations: 60     Fields:    Translation:HumansCells
    433. Jensen PW, Falconi M, Kristoffersen EL, Simonsen AT, Vagner J, Harmsen C, Juul S, Ho YP, Withers MA, Lupski JR, Desideri A, Knudsen BR, Stougaard M, Cifuentes JB, Marcussen LB, Fr?hlich R, Koch J. Real-time detection of TDP1 activity using a fluorophore-quencher coupled DNA-biosensor. Biosens Bioelectron. 2013 Oct 15; 48:230-7. PMID: 23693093.
      Citations: 12     Fields:    Translation:HumansCells
    434. Verdin H, D'haene B, Beysen D, Novikova Y, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E, Menten B. Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genet. 2013; 9(3):e1003358. PMID: 23516377; PMCID: PMC3597517.
      Citations: 41     Fields:    Translation:HumansCells
    435. Zhou W, Zhang F, Chen X, Shen Y, Lupski JR, Jin L. Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms. Hum Mol Genet. 2013 Jul 01; 22(13):2642-51. PMID: 23474816; PMCID: PMC3674805.
      Citations: 11     Fields:    Translation:HumansCells
    436. Harris RA, Shaw C, Li J, Cheung SW, Coarfa C, Jeong M, Goodell MA, White LD, Patel A, Kang SH, Chinault AC, Gambin T, Gambin A, Lupski JR, Milosavljevic A. Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability. PLoS Genet. 2013; 9(2):e1003333. PMID: 23468659; PMCID: PMC3585018.
      Citations: 1     Fields:    Translation:HumansCells
    437. Bainbridge MN, Muzny DM, Lupski JR, Graham BH, Gripp KW, Jenny K, Yang Y, Sutton VR, Gibbs RA, Hu H, Musante L, Chen W, Wienker TF, Ropers HH. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 2013; 5(2):11. PMID: 23383720; PMCID: PMC3707024.
      Citations: 67     Fields:    
    438. Caulfield T, Khoury MJ, Lupski JR, Veenstra T, Auffray C, Schwab M. 2012 highlights in translational 'omics. Genome Med. 2013; 5(1):10. PMID: 23369291; PMCID: PMC3707050.
      Citations: 2     Fields:    
    439. Manolio TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R, Bick D, Bottinger EP, Brilliant MH, Eng C, Frazer KA, Korf B, Ledbetter DH, Lupski JR, Marsh C, Mrazek D, Murray MF, O'Donnell PH, Rader DJ, Relling MV, Shuldiner AR, Valle D, Weinshilboum R, Green ED, Ginsburg GS. Implementing genomic medicine in the clinic: the future is here. Genet Med. 2013 Apr; 15(4):258-67. PMID: 23306799; PMCID: PMC3835144.
      Citations: 235     Fields:    Translation:Humans
    440. Lacaria M, Gu W, Lupski JR. A functional role for structural variation in metabolism. Adipocyte. 2013 Jan 01; 2(1):55-57. PMID: 23700554; PMCID: PMC3661138.
      Citations:    Fields:    
    441. Bi W, Borgan C, Pursley AN, Hixson P, Shaw CA, Bacino CA, Lalani SR, Patel A, Stankiewicz P, Lupski JR, Beaudet AL, Cheung SW. Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genet Med. 2013 Jun; 15(6):450-7. PMID: 23238528.
      Citations: 23     Fields:    Translation:Humans
    442. Lupski JR. Digenic inheritance and Mendelian disease. Nat Genet. 2012 Dec; 44(12):1291-2. PMID: 23192179.
      Citations: 26     Fields:    Translation:Humans
    443. Li Y, Shaw CA, Sheffer I, Sule N, Powell SZ, Dawson B, Zaidi SN, Bucasas KL, Lupski JR, Wilhelmsen KC, Doody R, Szigeti K. Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease. Transl Psychiatry. 2012 Nov 20; 2:e192. PMID: 23168992; PMCID: PMC3565761.
      Citations: 8     Fields:    Translation:Humans
    444. Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB. The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism. Autism Res. 2013 Feb; 6(1):42-50. PMID: 23169761; PMCID: PMC3578988.
      Citations: 21     Fields:    Translation:Humans
    445. Sun Z, Liu P, Jia X, Withers MA, Jin L, Lupski JR, Zhang F. Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome. Hum Mol Genet. 2013 Feb 15; 22(4):749-56. PMID: 23161748; PMCID: PMC3554201.
      Citations: 9     Fields:    Translation:HumansCells
    446. Lupski JR. Brain copy number variants and neuropsychiatric traits. Biol Psychiatry. 2012 Oct 15; 72(8):617-9. PMID: 22999336.
      Citations: 6     Fields:    Translation:Humans
    447. Dittwald P, Gambin T, Gonzaga-Jauregui C, Carvalho CM, Lupski JR, Stankiewicz P, Gambin A. Inverted low-copy repeats and genome instability--a genome-wide analysis. Hum Mutat. 2013 Jan; 34(1):210-20. PMID: 22965494; PMCID: PMC3738003.
      Citations: 32     Fields:    Translation:HumansCells
    448. Velez-Ruiz G, McLaughlin HM, NISC Comparative Sequencing Program, Lupski JR, Talbot K, Vance JM, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA, Antonellis A, Vester A, Z?chner S. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat. 2013 Jan; 34(1):191-9. PMID: 22930593; PMCID: PMC3535524.
      Citations: 65     Fields:    Translation:HumansAnimalsCells
    449. Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events. J Med Genet. 2012 Nov; 49(11):681-8. PMID: 23042811.
      Citations: 6     Fields:    Translation:HumansCells
    450. Riccardi VM, Lupski JR. Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic. Genet Med. 2013 Mar; 15(3):172-3. PMID: 23037932.
      Citations: 7     Fields:    Translation:HumansCells
    451. Heck DH, Gu W, Cao Y, Qi S, Lacaria M, Lupski JR. Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior. Am J Med Genet A. 2012 Nov; 158A(11):2807-14. PMID: 22991245; PMCID: PMC3477298.
      Citations: 6     Fields:    Translation:Animals
    452. Hanchard NA, Murdock DR, Magoulas PL, Bainbridge M, Muzny D, Wu Y, Wang M, Lupski JR, Gibbs RA, Brown CW. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 May; 83(5):457-461. PMID: 22901280; PMCID: PMC3926310.
      Citations: 15     Fields:    Translation:HumansCells
    453. Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013 Feb; 21(2):173-81. PMID: 22929023; PMCID: PMC3548268.
      Citations: 21     Fields:    Translation:HumansCells
    454. Migdalska AM, van der Weyden L, Ismail O, Sanger Mouse Genetics Project, Rust AG, Rashid M, White JK, Lupski JR, Logan DW, Arends MJ, Adams DJ, S?nchez-Andrade G. Generation of the Sotos syndrome deletion in mice. Mamm Genome. 2012 Dec; 23(11-12):749-57. PMID: 22926222; PMCID: PMC3510424.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    455. Yauk CL, Lucas Argueso J, Auerbach SS, Davis SR, DeMarini DM, Douglas GR, Dubrova YE, Elespuru RK, Glover TW, Hales BF, Hurles ME, Klein CB, Lupski JR, Manchester DK, Marchetti F, Montpetit A, Mulvihill JJ, Robaire B, Robbins WA, Shaughnessy DT, Somers CM, Taylor JG, Trasler J, Waters MD, Wilson TE, Witt KL, Bishop JB, Awadalla P, Rouleau GA. Harnessing genomics to identify environmental determinants of heritable disease. Mutat Res. 2013 Jan-Mar; 752(1):6-9. PMID: 22935230; PMCID: PMC3556182.
      Citations: 6     Fields:    Translation:HumansAnimals
    456. Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, Keeney JG, Jackson J, Sikela M, Raznahan A, Giedd J, Rapoport J, Nagamani SS, Erez A, Brunetti-Pierri N, Sugalski R, Lupski JR, Fingerlin T, Cheung SW, Sikela JM. DUF1220-domain copy number implicated in human brain-size pathology and evolution. Am J Hum Genet. 2012 Sep 07; 91(3):444-54. PMID: 22901949; PMCID: PMC3511999.
      Citations: 64     Fields:    Translation:HumansAnimalsCells
    457. Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR. Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Hum Genet. 2012 Dec; 131(12):1895-910. PMID: 22890305; PMCID: PMC3493700.
      Citations: 21     Fields:    Translation:HumansCells
    458. Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. BMC Med Genet. 2012 Aug 10; 13:71. PMID: 22883432; PMCID: PMC3575261.
      Citations: 8     Fields:    Translation:Humans
    459. Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung SW, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, Lupski JR. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 Jan; 15(1):45-54. PMID: 22878507; PMCID: PMC3705759.
      Citations: 17     Fields:    Translation:HumansCells
    460. Royo JL, Barroso E, Barreda-Bonis AC, Liu P, Lupski JR, Heath KE, Benito-Sanz S, Paumard-Hern?ndez B, Grac?a R, Campos-Barros ?, G?mez-Skarmeta JL. Identification of the first recurrent PAR1 deletion in L?ri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. J Med Genet. 2012 Jul; 49(7):442-50. PMID: 22791839.
      Citations: 28     Fields:    Translation:HumansAnimalsCells
    461. Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med. 2012 Oct; 14(10):868-76. PMID: 22722545; PMCID: PMC3713627.
      Citations: 25     Fields:    Translation:HumansCells
    462. Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA, Centers for Mendelian Genomics. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A. 2012 Jul; 158A(7):1523-5. PMID: 22628075; PMCID: PMC3702263.
      Citations: 65     Fields:    Translation:Humans
    463. Lacaria M, Saha P, Potocki L, Bi W, Yan J, Girirajan S, Burns B, Elsea S, Walz K, Chan L, Lupski JR, Gu W. A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet. 2012; 8(5):e1002713. PMID: 22654670; PMCID: PMC3359973.
      Citations: 28     Fields:    Translation:HumansAnimals
    464. Li J, Harris RA, Cheung SW, Coarfa C, Jeong M, Goodell MA, White LD, Patel A, Kang SH, Shaw C, Chinault AC, Gambin T, Gambin A, Lupski JR, Milosavljevic A. Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome. PLoS Genet. 2012; 8(5):e1002692. PMID: 22615578; PMCID: PMC3355074.
      Citations: 43     Fields:    Translation:HumansAnimalsCells
    465. Bien-Willner GA, Bhattacharjee MB, Patel KU, Stankiewicz P, Lupski JR, Pfeifer JD, Perry A, L?pez-Terrada D. Early recurrence in standard-risk medulloblastoma patients with the common idic(17)(p11.2) rearrangement. Neuro Oncol. 2012 Jul; 14(7):831-40. PMID: 22573308; PMCID: PMC3379796.
      Citations: 7     Fields:    Translation:HumansCells
    466. Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, Bi W, Lupski JR, Belmont J, Cheung SW, Stankiewicz P. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55. PMID: 22543972; PMCID: PMC3392111.
      Citations: 10     Fields:    Translation:HumansCells
    467. Lacaria M, Spencer C, Gu W, Paylor R, Lupski JR. Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits. Hum Mol Genet. 2012 Jul 15; 21(14):3083-96. PMID: 22492990; PMCID: PMC3384379.
      Citations: 24     Fields:    Translation:HumansAnimals
    468. Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn. 2012 Apr; 32(4):351-61. PMID: 22467166.
      Citations: 35     Fields:    Translation:HumansCells
    469. Liu P, Carvalho CM, Hastings PJ, Lupski JR. Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev. 2012 Jun; 22(3):211-20. PMID: 22440479; PMCID: PMC3378805.
      Citations: 155     Fields:    Translation:HumansCells
    470. Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CM, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E. High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease. Clin Genet. 2013 Jan; 83(1):66-72. PMID: 22283455; PMCID: PMC3381985.
      Citations: 4     Fields:    Translation:Humans
    471. Auffray C, Caulfield T, Khoury MJ, Lupski JR, Schwab M, Veenstra T. Looking back at genomic medicine in 2011. Genome Med. 2012 Jan 30; 4(1):9. PMID: 22293121; PMCID: PMC3334557.
      Citations: 3     Fields:    
    472. Gasser SM, Lupski JR, Le Cam Y, Menzel O. Leap year: Rare day to highlight rare diseases. Nature. 2012 Jan 18; 481(7381):265. PMID: 22258596.
      Citations: 2     Fields:    Translation:Humans
    473. Pehlivan D, Hullings M, Carvalho CM, Gonzaga-Jauregui CG, Loy E, Jackson LG, Krantz ID, Deardorff MA, Lupski JR. NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genet Med. 2012 Mar; 14(3):313-22. PMID: 22241092; PMCID: PMC3556738.
      Citations: 19     Fields:    Translation:HumansCells
    474. Gonzaga-Jauregui C, Lupski JR, Gibbs RA. Human genome sequencing in health and disease. Annu Rev Med. 2012; 63:35-61. PMID: 22248320; PMCID: PMC3656720.
      Citations: 182     Fields:    Translation:Humans
    475. Bi W, Breman A, Shaw CA, Stankiewicz P, Gambin T, Lu X, Cheung SW, Jackson LG, Lupski JR, Van den Veyver IB, Beaudet AL. Detection of =1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn. 2012 Jan; 32(1):10-20. PMID: 22470934.
      Citations: 11     Fields:    Translation:HumansCells
    476. Simmons AD, Carvalho CM, Lupski JR. What have studies of genomic disorders taught us about our genome? Methods Mol Biol. 2012; 838:1-27. PMID: 22228005.
      Citations: 5     Fields:    Translation:HumansCells
    477. Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R. Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011; 17:3529-40. PMID: 22219648; PMCID: PMC3250376.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    478. McLaughlin HM, Sakaguchi R, Giblin W, NISC Comparative Sequencing Program, Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A, Z?chner S. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Hum Mutat. 2012 Jan; 33(1):244-53. PMID: 22009580; PMCID: PMC3240693.
      Citations: 55     Fields:    Translation:HumansAnimalsCells
    479. Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L. Cardiovascular findings in duplication 17p11.2 syndrome. Genet Med. 2012 Jan; 14(1):90-4. PMID: 22237436; PMCID: PMC3666919.
      Citations: 14     Fields:    Translation:Humans
    480. Liu P, Lacaria M, Zhang F, Withers M, Hastings PJ, Lupski JR. Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am J Hum Genet. 2011 Oct 07; 89(4):580-8. PMID: 21981782; PMCID: PMC3188830.
      Citations: 57     Fields:    Translation:HumansCells
    481. Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet. 2011 Oct 02; 43(11):1074-81. PMID: 21964572; PMCID: PMC3235474.
      Citations: 100     Fields:    Translation:HumansCells
    482. Lupski JR, Belmont JW, Boerwinkle E, Gibbs RA. Clan genomics and the complex architecture of human disease. Cell. 2011 Sep 30; 147(1):32-43. PMID: 21962505; PMCID: PMC3656718.
      Citations: 192     Fields:    Translation:Humans
    483. Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, Chen R. Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Hum Mutat. 2011 Dec; 32(12):1450-9. PMID: 21901789; PMCID: PMC3943164.
      Citations: 32     Fields:    Translation:Humans
    484. Liu P, Erez A, Nagamani SC, Dhar SU, Kolodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W, Hern?ndez-Almaguer D. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903. PMID: 21925314; PMCID: PMC3242451.
      Citations: 196     Fields:    Translation:HumansCells
    485. Outwin E, Carpenter G, Bi W, Withers MA, Lupski JR, O'Driscoll M. Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. PLoS Genet. 2011 Aug; 7(8):e1002247. PMID: 21901111; PMCID: PMC3161930.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    486. Boone PM, Reiter RJ, Glaze DG, Tan DX, Lupski JR, Potocki L. Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. Am J Med Genet A. 2011 Aug; 155A(8):2024-7. PMID: 21739587; PMCID: PMC3140606.
      Citations: 18     Fields:    Translation:Humans
    487. Carvalho CM, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski JR. Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22. Clin Genet. 2012 Jun; 81(6):532-41. PMID: 21623770; PMCID: PMC3470482.
      Citations: 21     Fields:    Translation:HumansCells
    488. Cheung HC, Yatsenko SA, Kadapakkam M, Su J, Lupski JR, Plon SE, Legay H. Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma. Pediatr Blood Cancer. 2012 May; 58(5):801-5. PMID: 21681934; PMCID: PMC3202030.
      Citations: 4     Fields:    Translation:HumansCells
    489. Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, Reid JG, Fink JK, Morgan MB, Gingras MC, Muzny DM, Hoang LD, Yousaf S, Lupski JR, Gibbs RA. Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011 Jun 15; 3(87):87re3. PMID: 21677200; PMCID: PMC3314311.
      Citations: 136     Fields:    Translation:Humans
    490. Boone PM, Liu P, Zhang F, Carvalho CM, Towne CF, Batish SD, Lupski JR. Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Genet Med. 2011 Jun; 13(6):582-92. PMID: 21659953; PMCID: PMC3407413.
      Citations: 31     Fields:    Translation:HumansCells
    491. Boone PM, Wiszniewski W, Lupski JR. Genomic medicine and neurological disease. Hum Genet. 2011 Jul; 130(1):103-21. PMID: 21594611; PMCID: PMC3133694.
      Citations: 7     Fields:    Translation:Humans
    492. Chinen J, Martinez-Gallo M, Gu W, Cols M, Cerutti A, Radigan L, Zhang L, Potocki L, Withers M, Lupski JR, Cunningham-Rundles C. Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome. J Allergy Clin Immunol. 2011 Jun; 127(6):1579-86. PMID: 21514638; PMCID: PMC3428026.
      Citations: 15     Fields:    Translation:HumansCells
    493. Shaw CA, Li Y, Wiszniewska J, Chasse S, Zaidi SN, Jin W, Dawson B, Wilhelmsen K, Lupski JR, Belmont JW, Doody RS, Szigeti K. Olfactory copy number association with age at onset of Alzheimer disease. Neurology. 2011 Apr 12; 76(15):1302-9. PMID: 21482944; PMCID: PMC3090061.
      Citations: 21     Fields:    Translation:HumansCells
    494. Ermanoska B, Jacobs A, De Vriendt E, Timmerman V, Lupski JR, Callaerts P, Jordanova A, Leit?o-Gon?alves R. Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT. Amino Acids. 2012 May; 42(5):1661-8. PMID: 21384131.
      Citations: 7     Fields:    Translation:HumansAnimals
    495. Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88. PMID: 21355048; PMCID: PMC3080608.
      Citations: 36     Fields:    Translation:HumansCells
    496. Auffray C, Caulfield T, Khoury MJ, Lupski JR, Schwab M, Veenstra T. Genome Medicine: past, present and future. Genome Med. 2011 Jan 31; 3(1):6. PMID: 21345269; PMCID: PMC3092091.
      Citations: 9     Fields:    
    497. van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8. PMID: 21248748; PMCID: PMC3060324.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    498. Carvalho CM, Zhang F, Lupski JR. Structural variation of the human genome: mechanisms, assays, and role in male infertility. Syst Biol Reprod Med. 2011 Feb; 57(1-2):3-16. PMID: 21210740; PMCID: PMC3179416.
      Citations: 18     Fields:    Translation:HumansCells
    499. Ou Z, Stankiewicz P, Xia Z, Breman AM, Dawson B, Wiszniewska J, Szafranski P, Cooper ML, Rao M, Shao L, South ST, Coleman K, Fernhoff PM, Deray MJ, Rosengren S, Roeder ER, Enciso VB, Chinault AC, Patel A, Kang SH, Shaw CA, Lupski JR, Cheung SW. Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 2011 Jan; 21(1):33-46. PMID: 21205869; PMCID: PMC3012924.
      Citations: 42     Fields:    Translation:HumansCells
    500. Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EM, Zhang F, Lupski JR, Fraley JK, Potocki L. Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. J Pediatr. 2011 Apr; 158(4):655-659.e2. PMID: 21168152; PMCID: PMC3059370.
      Citations: 20     Fields:    Translation:Humans
    501. Antonellis A, Dennis MY, Burzynski G, Huynh J, Maduro V, Hodonsky CJ, Khajavi M, Szigeti K, Mukkamala S, Bessling SL, Pavan WJ, McCallion AS, Lupski JR, Green ED, NISC Comparative Sequencing Program. A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo. PLoS One. 2010 Dec 16; 5(12):e14346. PMID: 21179557; PMCID: PMC3002941.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    502. Wiszniewski W, Lewis RA, Stockton DW, Peng J, Mardon G, Chen R, Lupski JR. Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. Hum Genet. 2011 Mar; 129(3):319-27. PMID: 21153841; PMCID: PMC3625363.
      Citations: 13     Fields:    Translation:Humans
    503. Lupski JR. New mutations and intellectual function. Nat Genet. 2010 Dec; 42(12):1036-8. PMID: 21102619.
      Citations: 16     Fields:    Translation:Humans
    504. Molina J, Chrast J, Gu W, Gheldof N, Pradervand S, Young JI, Lupski JR, Reymond A, Walz K, Ricard G, Sch?tz F. Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol. 2010 Nov 23; 8(11):e1000543. PMID: 21124890; PMCID: PMC2990707.
      Citations: 54     Fields:    Translation:Animals
    505. Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42. PMID: 20848651; PMCID: PMC3158569.
      Citations: 122     Fields:    Translation:HumansCells
    506. McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC, NISC Comparative Sequencing Program, Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A, Z?chner S. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet. 2010 Oct 08; 87(4):560-6. PMID: 20920668; PMCID: PMC2948804.
      Citations: 100     Fields:    Translation:HumansCells
    507. El-Hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-Dowell S, Scaglia F, Lupski JR, Cheung SW. Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genet Med. 2010 Sep; 12(9):573-86. PMID: 20860070.
      Citations: 21     Fields:    Translation:HumansCells
    508. Ratajska M, Wierzba J, Pehlivan D, Xia Z, Brundage EK, Cheung SW, Stankiewicz P, Lupski JR, Limon J. Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet. 2010 Nov-Dec; 53(6):378-82. PMID: 20727427.
      Citations: 7     Fields:    Translation:Humans
    509. Lupski JR. Interruption of SOX10 function in myelinopathies. Ann Neurol. 2010 Aug; 68(2):121-3. PMID: 20695004.
      Citations: 1     Fields:    Translation:HumansCells
    510. Lupski JR. Retrotransposition and structural variation in the human genome. Cell. 2010 Jun 25; 141(7):1110-2. PMID: 20602993.
      Citations: 23     Fields:    
    511. Gonzaga-Jauregui C, Zhang F, Towne CF, Batish SD, Lupski JR. GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. Neurogenetics. 2010 Oct; 11(4):465-70. PMID: 20532933; PMCID: PMC4222676.
      Citations: 18     Fields:    Translation:HumansCells
    512. Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet. 2010 Jun 11; 86(6):892-903. PMID: 20493460; PMCID: PMC3032071.
      Citations: 70     Fields:    Translation:HumansCells
    513. Shchelochkov OA, Cheung SW, Lupski JR. Genomic and clinical characteristics of microduplications in chromosome 17. Am J Med Genet A. 2010 May; 152A(5):1101-10. PMID: 20425816.
      Citations: 14     Fields:    Translation:HumansCells
    514. Kang SH, Shaw C, Ou Z, Eng PA, Cooper ML, Pursley AN, Sahoo T, Bacino CA, Chinault AC, Stankiewicz P, Patel A, Lupski JR, Cheung SW. Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A. 2010 May; 152A(5):1111-26. PMID: 20340098; PMCID: PMC3726029.
      Citations: 31     Fields:    Translation:HumansCells
    515. McGuire AL, Lupski JR. Personal genome research : what should the participant be told? Trends Genet. 2010 May; 26(5):199-201. PMID: 20381895; PMCID: PMC2868334.
      Citations: 33     Fields:    Translation:Humans
    516. Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 Apr 01; 362(13):1181-91. PMID: 20220177; PMCID: PMC4036802.
      Citations: 353     Fields:    Translation:Humans
    517. Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR. Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet. 2010 Mar 12; 86(3):462-70. PMID: 20188345; PMCID: PMC2833368.
      Citations: 43     Fields:    Translation:HumansCells
    518. Carvalho CM, Zhang F, Lupski JR. Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A. 2010 Jan 26; 107 Suppl 1:1765-71. PMID: 20080665; PMCID: PMC2868291.
      Citations: 35     Fields:    Translation:HumansCells
    519. Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu Rev Med. 2010; 61:437-55. PMID: 20059347.
      Citations: 498     Fields:    Translation:Humans
    520. Boles MK, Wilkinson BM, Wilming LG, Liu B, Probst FJ, Harrow J, Grafham D, Hentges KE, Woodward LP, Maxwell A, Mitchell K, Risley MD, Johnson R, Hirschi K, Lupski JR, Funato Y, Miki H, Marin-Garcia P, Matthews L, Coffey AJ, Parker A, Hubbard TJ, Rogers J, Bradley A, Adams DJ, Justice MJ. Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin. PLoS Genet. 2009 Dec; 5(12):e1000759. PMID: 20011118; PMCID: PMC2782131.
      Citations: 28     Fields:    Translation:Animals
    521. Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009 Dec; 66(6):771-82. PMID: 20035514; PMCID: PMC2801873.
      Citations: 140     Fields:    Translation:HumansCells
    522. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41. PMID: 19914906; PMCID: PMC3158566.
      Citations: 213     Fields:    Translation:HumansCells
    523. Franco LM, de Ravel T, Graham BH, Frenkel SM, Van Driessche J, Stankiewicz P, Lupski JR, Vermeesch JR, Cheung SW. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion. Eur J Hum Genet. 2010 Feb; 18(2):258-61. PMID: 19844260; PMCID: PMC2987195.
      Citations: 17     Fields:    Translation:HumansCells
    524. Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Heuss D, Dorn T, Young P, Santolin L, Uhlmann T, Meisterernst M, Sereda MW, Stassart RM, Zu Horste GM, Nave KA, Rautenstrauss B, Neund?rfer B, Reis A. Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics. 2009 10; 10(4):375-376. PMID: 25488817; PMCID: PMC2847162.
      Citations: 3     Fields:    
    525. Hastings PJ, Lupski JR, Rosenberg SM, Ira G. Mechanisms of change in gene copy number. Nat Rev Genet. 2009 Aug; 10(8):551-64. PMID: 19597530; PMCID: PMC2864001.
      Citations: 535     Fields:    Translation:Humans
    526. Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec; 46(12):825-33. PMID: 19584063.
      Citations: 43     Fields:    Translation:HumansCells
    527. El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009 Oct; 126(4):589-602. PMID: 19557438; PMCID: PMC3669685.
      Citations: 34     Fields:    Translation:HumansCells
    528. Zhang F, Carvalho CM, Lupski JR. Complex human chromosomal and genomic rearrangements. Trends Genet. 2009 Jul; 25(7):298-307. PMID: 19560228; PMCID: PMC4464790.
      Citations: 112     Fields:    Translation:HumansCells
    529. Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet. 2009 Jul; 41(7):849-53. PMID: 19543269; PMCID: PMC4461229.
      Citations: 213     Fields:    Translation:HumansCells
    530. Lupski JR. Genomic disorders ten years on. Genome Med. 2009 Apr 24; 1(4):42. PMID: 19439022; PMCID: PMC2684663.
      Citations: 72     Fields:    
    531. Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15; 18(12):2188-203. PMID: 19324899; PMCID: PMC2685756.
      Citations: 91     Fields:    Translation:HumansCells
    532. Yatsenko SA, Shaw CA, Ou Z, Pursley AN, Patel A, Bi W, Cheung SW, Lupski JR, Chinault AC, Beaudet AL. Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA. J Mol Diagn. 2009 May; 11(3):226-37. PMID: 19324990; PMCID: PMC2671340.
      Citations: 3     Fields:    Translation:HumansCells
    533. Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Heuss D, Dorn T, Young P, Santolin L, Uhlmann T, Meisterernst M, Sereda MW, Sereda M, Stassart RM, Meyer zu Horste G, Nave KA, Rautenstrauss B, Neund?rfer B, Reis A. Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics. 2009 10; 10(4):275-87. PMID: 19290556; PMCID: PMC2847151.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    534. Yatsenko SA, Brundage EK, Roney EK, Cheung SW, Chinault AC, Lupski JR. Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet. 2009 Jun 01; 18(11):1924-36. PMID: 19293338; PMCID: PMC2678925.
      Citations: 29     Fields:    Translation:HumansCells
    535. Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009 Jun; 46(6):382-8. PMID: 19289393; PMCID: PMC2776649.
      Citations: 96     Fields:    Translation:HumansCells
    536. Szigeti K, Lupski JR. Charcot-Marie-Tooth disease. Eur J Hum Genet. 2009 Jun; 17(6):703-10. PMID: 19277060; PMCID: PMC2947101.
      Citations: 59     Fields:    Translation:Humans
    537. Gu W, Lupski JR. CNV and nervous system diseases--what's new? Cytogenet Genome Res. 2008; 123(1-4):54-64. PMID: 19287139; PMCID: PMC2920183.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    538. Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet. 2009 Mar; 84(3):380-7. PMID: 19268277; PMCID: PMC2668010.
      Citations: 63     Fields:    Translation:HumansAnimals
    539. Ben-Shachar S, Khajavi M, Withers MA, Shaw CA, van Bokhoven H, Brunner HG, Lupski JR. Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved? Clin Genet. 2009 Apr; 75(4):394-400. PMID: 19236432.
      Citations: 15     Fields:    Translation:HumansCells
    540. Hastings PJ, Ira G, Lupski JR. A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet. 2009 Jan; 5(1):e1000327. PMID: 19180184; PMCID: PMC2621351.
      Citations: 418     Fields:    Translation:HumansAnimalsCells
    541. Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O. Increased LIS1 expression affects human and mouse brain development. Nat Genet. 2009 Feb; 41(2):168-77. PMID: 19136950; PMCID: PMC4396744.
      Citations: 104     Fields:    Translation:HumansAnimalsCells
    542. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann D, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ, American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, American Academy of Physical Medicine and Rehabilitation. Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. PM R. 2009 Jan; 1(1):14-22. PMID: 19627868.
      Citations: 13     Fields:    Translation:Humans
    543. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann DN, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ, American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, American Academy of Physical Medicine and Rehabilitation. Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation. PM R. 2009 Jan; 1(1):5-13. PMID: 19627867.
      Citations: 10     Fields:    Translation:Humans
    544. Zhang F, Gu W, Hurles ME, Lupski JR. Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet. 2009; 10:451-81. PMID: 19715442; PMCID: PMC4472309.
      Citations: 515     Fields:    Translation:HumansAnimalsCells
    545. Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn. 2009 Jan; 29(1):29-39. PMID: 19012303; PMCID: PMC3665952.
      Citations: 39     Fields:    Translation:Humans
    546. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann D, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ, American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, American Academy of Physical Medicine and Rehabilitation. Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Muscle Nerve. 2009 Jan; 39(1):116-25. PMID: 19086068.
      Citations: 18     Fields:    Translation:Humans
    547. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann D, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ, American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, American Academy of Physical Medicine and Rehabilitation. Evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Muscle Nerve. 2009 Jan; 39(1):106-15. PMID: 19086069.
      Citations: 26     Fields:    Translation:HumansCells
    548. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann DN, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ, American Academy of Neurology. Practice Parameter: evaluation of distal symmetric polyneuropathy: role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology. 2009 Jan 13; 72(2):177-84. PMID: 19056667.
      Citations: 77     Fields:    Translation:HumansCells
    549. England JD, Gronseth GS, Franklin G, Carter GT, Kinsella LJ, Cohen JA, Asbury AK, Szigeti K, Lupski JR, Latov N, Lewis RA, Low PA, Fisher MA, Herrmann DN, Howard JF, Lauria G, Miller RG, Polydefkis M, Sumner AJ, American Academy of Neurology. Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation. Neurology. 2009 Jan 13; 72(2):185-92. PMID: 19056666.
      Citations: 64     Fields:    Translation:Humans
    550. Yan J, Zhang F, Brundage E, Scheuerle A, Lanpher B, Erickson RP, Powis Z, Robinson HB, Trapane PL, Stachiw-Hietpas D, Keppler-Noreuil KM, Lalani SR, Sahoo T, Chinault AC, Patel A, Cheung SW, Lupski JR. Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J Med Genet. 2009 Sep; 46(9):626-34. PMID: 19052029; PMCID: PMC4302738.
      Citations: 17     Fields:    Translation:HumansCells
    551. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71. PMID: 19029900; PMCID: PMC2680128.
      Citations: 247     Fields:    Translation:HumansCells
    552. Lu XY, Phung MT, Shaw CA, Pham K, Neil SE, Patel A, Sahoo T, Bacino CA, Stankiewicz P, Kang SH, Lalani S, Chinault AC, Lupski JR, Cheung SW, Beaudet AL. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 2008 Dec; 122(6):1310-8. PMID: 19047251; PMCID: PMC2795566.
      Citations: 60     Fields:    Translation:Humans
    553. Nagamani SC, Erez A, Eng C, Ou Z, Chinault C, Workman L, Coldwell J, Stankiewicz P, Patel A, Lupski JR, Cheung SW. Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet. 2009 May; 17(5):573-81. PMID: 19034313; PMCID: PMC2986272.
      Citations: 19     Fields:    Translation:HumansCells
    554. Gu W, Zhang F, Lupski JR. Mechanisms for human genomic rearrangements. Pathogenetics. 2008 Nov 03; 1(1):4. PMID: 19014668; PMCID: PMC2583991.
      Citations: 243     
    555. Li Y, Wang H, Peng J, Gibbs RA, Lewis RA, Lupski JR, Mardon G, Chen R. Mutation survey of known LCA genes and loci in the Saudi Arabian population. Invest Ophthalmol Vis Sci. 2009 Mar; 50(3):1336-43. PMID: 18936139; PMCID: PMC2695987.
      Citations: 35     Fields:    Translation:HumansCells
    556. Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75. PMID: 18812404; PMCID: PMC2680125.
      Citations: 18     Fields:    Translation:HumansAnimals
    557. Lupski JR. Schizophrenia: Incriminating genomic evidence. Nature. 2008 Sep 11; 455(7210):178-9. PMID: 18784712.
      Citations: 16     Fields:    Translation:Humans
    558. Shao L, Shaw CA, Lu XY, Sahoo T, Bacino CA, Lalani SR, Stankiewicz P, Yatsenko SA, Li Y, Neill S, Pursley AN, Chinault AC, Patel A, Beaudet AL, Lupski JR, Cheung SW. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A. 2008 Sep 01; 146A(17):2242-51. PMID: 18663743; PMCID: PMC2680131.
      Citations: 47     Fields:    Translation:HumansCells
    559. Carvalho CM, Lupski JR. Copy number variation at the breakpoint region of isochromosome 17q. Genome Res. 2008 Nov; 18(11):1724-32. PMID: 18714090; PMCID: PMC2577857.
      Citations: 29     Fields:    Translation:HumansCells
    560. Carmona-Mora P, Chrast J, Krall PM, Lupski JR, Reymond A, Walz K, Molina J, Canales CP. Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome. Hum Mol Genet. 2008 Aug 15; 17(16):2486-95. PMID: 18469339.
      Citations: 38     Fields:    Translation:HumansAnimals
    561. Lupski JR. Allan Award Introduction: Arthur L. Beaudet. Am J Hum Genet. 2008 May; 82(5):1032-3. PMID: 18610510; PMCID: PMC2427270.
      Citations:    Fields:    
    562. Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, Lupski JR, Hammond P, Beales PL. Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A. 2008 May 06; 105(18):6714-9. PMID: 18443298; PMCID: PMC2373327.
      Citations: 91     Fields:    Translation:HumansAnimalsCells
    563. Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 Apr 17; 452(7189):872-6. PMID: 18421352.
      Citations: 727     Fields:    Translation:Humans
    564. Holder-Espinasse M, Bieth E, Magdelaine C, Vincent MC, Khoury M, Andrieux J, Zhang F, Lupski JR, Klink R, Schneider A, Goze-Martineau O, Cuisset JM, Vallee L, Manouvrier-Hanu S, Gaillard D, Doco-Fenzy M, de Martinville B. The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients. Am J Med Genet A. 2008 Apr 01; 146A(7):917-24. PMID: 18327785.
      Citations: 6     Fields:    Translation:HumansCells
    565. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77. PMID: 18414210.
      Citations: 73     Fields:    Translation:HumansCells
    566. Khajavi M, Lupski JR. Balancing between adaptive and maladaptive cellular stress responses in peripheral neuropathy. Neuron. 2008 Feb 07; 57(3):329-30. PMID: 18255024.
      Citations: 4     Fields:    Translation:AnimalsCells
    567. Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet. 2008 Jan; 82(1):214-21. PMID: 18179902; PMCID: PMC2253964.
      Citations: 71     Fields:    Translation:HumansCells
    568. Lee JA, Carvalho CM, Lupski JR. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 2007 Dec 28; 131(7):1235-47. PMID: 18160035.
      Citations: 411     Fields:    Translation:HumansCells
    569. Lupski JR. An evolution revolution provides further revelation. Bioessays. 2007 Dec; 29(12):1182-4. PMID: 18008371.
      Citations: 12     Fields:    Translation:HumansAnimals
    570. Abd-El-Barr MM, Sykoudis K, Andrabi S, Eichers ER, Pennesi ME, Tan PL, Wilson JH, Katsanis N, Lupski JR, Wu SM. Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome. Vision Res. 2007 Dec; 47(27):3394-407. PMID: 18022666; PMCID: PMC2661240.
      Citations: 59     Fields:    Translation:AnimalsCells
    571. Simovich MJ, Yatsenko SA, Kang SH, Cheung SW, Dudek ME, Pursley A, Ward PA, Patel A, Lupski JR. Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation. Prenat Diagn. 2007 Dec; 27(12):1112-7. PMID: 17849500.
      Citations: 7     Fields:    Translation:HumansCells
    572. Kabzinska D, Saifi GM, Drac H, Rowinska-Marcinska K, Hausmanowa-Petrusewicz I, Kochanski A, Lupski JR. Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. Acta Myol. 2007 Oct; 26(2):108-11. PMID: 18421898; PMCID: PMC2949579.
      Citations: 3     Fields:    Translation:HumansCells
    573. Inoue K, Ohyama T, Sakuragi Y, Yamamoto R, Inoue NA, Yu LH, Li-Hua Y, Goto Y, Wegner M, Lupski JR. Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. Hum Mol Genet. 2007 Dec 15; 16(24):3037-46. PMID: 17855451.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    574. Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos SCh, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR. Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics. 2007 Nov; 8(4):257-62. PMID: 17717711.
      Citations: 16     Fields:    Translation:HumansCells
    575. Khajavi M, Shiga K, Wiszniewski W, He F, Shaw CA, Yan J, Wensel TG, Snipes GJ, Lupski JR. Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet. 2007 Sep; 81(3):438-53. PMID: 17701891; PMCID: PMC1950845.
      Citations: 46     Fields:    Translation:HumansAnimalsCells
    576. Babcock M, Yatsenko S, Hopkins J, Brenton M, Cao Q, de Jong P, Stankiewicz P, Lupski JR, Sikela JM, Morrow BE. Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome. Hum Mol Genet. 2007 Nov 01; 16(21):2560-71. PMID: 17675367.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    577. Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A. 2007 Aug 01; 143A(15):1679-86. PMID: 17607705.
      Citations: 59     Fields:    Translation:HumansCells
    578. Gherman A, Chen PE, Teslovich TM, Stankiewicz P, Withers M, Kashuk CS, Chakravarti A, Lupski JR, Cutler DJ, Katsanis N. Population bottlenecks as a potential major shaping force of human genome architecture. PLoS Genet. 2007 Jul; 3(7):e119. PMID: 17658953; PMCID: PMC1925129.
      Citations: 32     Fields:    Translation:HumansAnimalsCells
    579. Lupski JR. Genomic rearrangements and sporadic disease. Nat Genet. 2007 Jul; 39(7 Suppl):S43-7. PMID: 17597781.
      Citations: 185     Fields:    Translation:Humans
    580. Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med. 2007 Jul; 9(7):427-41. PMID: 17666889.
      Citations: 71     Fields:    Translation:HumansCells
    581. Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007 Jul 05; 448(7149):68-72. PMID: 17572665; PMCID: PMC2271033.
      Citations: 224     Fields:    Translation:HumansAnimalsCells
    582. Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clin Genet. 2007 Jun; 71(6):540-50. PMID: 17539903.
      Citations: 62     Fields:    Translation:HumansCells
    583. Bi W, Yan J, Shi X, Yuva-Paylor LA, Antalffy BA, Goldman A, Yoo JW, Noebels JL, Armstrong DL, Paylor R, Lupski JR. Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes. Hum Mol Genet. 2007 Aug 01; 16(15):1802-13. PMID: 17517686.
      Citations: 38     Fields:    Translation:Animals
    584. Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet. 2007 Aug; 122(1):63-70. PMID: 17503084.
      Citations: 24     Fields:    Translation:HumansCells
    585. Human Genome Structural Variation Working Group, Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH. Completing the map of human genetic variation. Nature. 2007 May 10; 447(7141):161-5. PMID: 17495918; PMCID: PMC2685471.
      Citations: 88     Fields:    Translation:Humans
    586. Magner DB, Blankschien MD, Lee JA, Pennington JM, Lupski JR, Rosenberg SM. RecQ promotes toxic recombination in cells lacking recombination intermediate-removal proteins. Mol Cell. 2007 Apr 27; 26(2):273-86. PMID: 17466628; PMCID: PMC2881834.
      Citations: 37     Fields:    Translation:Cells
    587. Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. Hum Genet. 2007 Jul; 121(6):697-709. PMID: 17457615; PMCID: PMC1914245.
      Citations: 17     Fields:    Translation:HumansCells
    588. Bien-Willner GA, Stankiewicz P, Lupski JR. SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway. Hum Mol Genet. 2007 May 15; 16(10):1143-56. PMID: 17409199.
      Citations: 32     Fields:    Translation:HumansCells
    589. Lu X, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, Sullivan CM, Sahoo T, Yatsenko SA, Bacino CA, Stankiewicz P, Ou Z, Chinault AC, Beaudet AL, Lupski JR, Cheung SW, Ward PA. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One. 2007 Mar 28; 2(3):e327. PMID: 17389918; PMCID: PMC1828620.
      Citations: 74     Fields:    Translation:HumansCells
    590. Lupski JR. Structural variation in the human genome. N Engl J Med. 2007 Mar 15; 356(11):1169-71. PMID: 17360997.
      Citations: 52     Fields:    Translation:Humans
    591. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007 Apr; 80(4):633-49. PMID: 17357070; PMCID: PMC1852712.
      Citations: 141     Fields:    Translation:HumansCells
    592. Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet. 2007 Apr; 80(4):616-32. PMID: 17357069; PMCID: PMC1852714.
      Citations: 98     Fields:    Translation:HumansAnimalsCells
    593. Babcock M, Yatsenko S, Stankiewicz P, Lupski JR, Morrow BE. AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12. Genome Res. 2007 Apr; 17(4):451-60. PMID: 17284672; PMCID: PMC1832092.
      Citations: 13     Fields:    Translation:HumansCells
    594. Wiszniewski W, Lewis RA, Lupski JR. Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Hum Genet. 2007 May; 121(3-4):433-9. PMID: 17265047.
      Citations: 25     Fields:    Translation:HumansCells
    595. Yan J, Bi W, Lupski JR. Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. Am J Hum Genet. 2007 Mar; 80(3):518-25. PMID: 17273973; PMCID: PMC1821110.
      Citations: 21     Fields:    Translation:AnimalsCells
    596. Leipoldt M, Erdel M, Bien-Willner GA, Smyk M, Theurl M, Yatsenko SA, Lupski JR, Lane AH, Shanske AL, Stankiewicz P, Scherer G. Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia. Clin Genet. 2007 Jan; 71(1):67-75. PMID: 17204049.
      Citations: 28     Fields:    Translation:HumansCells
    597. del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92. PMID: 17172942.
      Citations: 121     Fields:    Translation:HumansCells
    598. Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR. RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A. 2006 Nov 15; 140(22):2454-63. PMID: 17041942.
      Citations: 25     Fields:    Translation:HumansCells
    599. Lee JA, Lupski JR. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron. 2006 Oct 05; 52(1):103-21. PMID: 17015230.
      Citations: 109     Fields:    Translation:HumansAnimalsCells
    600. Walz K, Paylor R, Yan J, Bi W, Lupski JR. Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2). J Clin Invest. 2006 Nov; 116(11):3035-41. PMID: 17024248; PMCID: PMC1590269.
      Citations: 38     Fields:    Translation:AnimalsCells
    601. Lindsay SJ, Khajavi M, Lupski JR, Hurles ME. A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet. 2006 Nov; 79(5):890-902. PMID: 17033965; PMCID: PMC1698570.
      Citations: 51     Fields:    Translation:HumansAnimalsCells
    602. Lupski JR. Genome structural variation and sporadic disease traits. Nat Genet. 2006 Sep; 38(9):974-6. PMID: 16941003.
      Citations: 31     Fields:    Translation:HumansCells
    603. Yan J, Saifi GM, Wierzba TH, Withers M, Bien-Willner GA, Limon J, Stankiewicz P, Lupski JR, Wierzba J. Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. Am J Med Genet A. 2006 Jul 15; 140(14):1531-41. PMID: 16770807.
      Citations: 30     Fields:    Translation:HumansCells
    604. Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR. Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Hum Genet. 2006 Sep; 120(2):211-26. PMID: 16794820.
      Citations: 57     Fields:    Translation:Animals
    605. Ou Z, Jarmuz M, Sparagana SP, Michaud J, Yatsenko SA, Nowakowska B, Furman P, Shaw CA, Shaffer LG, Lupski JR, Chinault AC, Cheung SW, Stankiewicz P, D?carie JC. Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations. Hum Genet. 2006 Sep; 120(2):227-37. PMID: 16791615.
      Citations: 5     Fields:    Translation:HumansCells
    606. Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet. 2006 Jul 15; 15(14):2250-65. PMID: 16774974.
      Citations: 35     Fields:    Translation:HumansCells
    607. Khajavi M, Inoue K, Lupski JR. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet. 2006 Oct; 14(10):1074-81. PMID: 16757948.
      Citations: 177     Fields:    Translation:HumansAnimals
    608. Madduri N, Peters SU, Voigt RG, Llorente AM, Lupski JR, Potocki L. Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J Dev Behav Pediatr. 2006 Jun; 27(3):188-92. PMID: 16775514.
      Citations: 17     Fields:    Translation:HumansCells
    609. Verhoeven K, Claeys KG, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V, Z?chner S, Schr?der JM. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain. 2006 Aug; 129(Pt 8):2093-102. PMID: 16714318.
      Citations: 126     Fields:    Translation:Humans
    610. Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C, O'Leary SB. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature. 2006 Apr 20; 440(7087):1045-9. PMID: 16625196; PMCID: PMC2610434.
      Citations: 65     Fields:    Translation:HumansAnimalsCells
    611. Bidinost C, Hernandez N, Edward DP, Al-Rajhi A, Lewis RA, Lupski JR, Stockton DW, Bejjani BA. Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans. Invest Ophthalmol Vis Sci. 2006 Apr; 47(4):1486-90. PMID: 16565383.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    612. Stankiewicz P, Kuechler A, Eller CD, Sahoo T, Baldermann C, Lieser U, Hesse M, Hagemann M, Yatsenko SA, Liehr T, Horsthemke B, Claussen U, Marahrens Y, Lupski JR, Hansmann I, Gl?ser C. Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation. Am J Med Genet A. 2006 Mar 01; 140(5):442-52. PMID: 16470732.
      Citations: 9     Fields:    Translation:HumansCells
    613. Goldman AM, Potocki L, Walz K, Lynch JK, Glaze DG, Lupski JR, Noebels JL. Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]. J Child Neurol. 2006 Feb; 21(2):93-8. PMID: 16566870.
      Citations: 13     Fields:    Translation:HumansCells
    614. Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K. Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol. 2006 Feb; 59(2):398-403. PMID: 16374829.
      Citations: 38     Fields:    Translation:HumansCells
    615. Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Saifi GM, Scherer SS, Lupski JR. T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy. Ann Neurol. 2006 Feb; 59(2):358-64. PMID: 16437560.
      Citations: 28     Fields:    Translation:Humans
    616. Szigeti K, Garcia CA, Lupski JR. Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management. Genet Med. 2006 Feb; 8(2):86-92. PMID: 16481890.
      Citations: 11     Fields:    Translation:HumansCellsPHPublic Health
    617. Stankiewicz P, Lupski JR. The genomic basis of disease, mechanisms and assays for genomic disorders. Genome Dyn. 2006; 1:1-16. PMID: 18724050.
      Citations: 15     Fields:    Translation:Humans
    618. Szigeti K, Nelis E, Lupski JR. Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies. Neuromolecular Med. 2006; 8(1-2):243-54. PMID: 16775379.
      Citations: 6     Fields:    Translation:Humans
    619. Timmerman V, Lupski JR, De Jonghe P. Molecular genetics, biology, and therapy for inherited peripheral neuropathies. Neuromolecular Med. 2006; 8(1-2):1-2. PMID: 16775363.
      Citations: 1     Fields:    Translation:HumansAnimals
    620. Tonk VS, Wilson GN, Yatsenko SA, Stankiewicz P, Lupski JR, Schutt RC, Northup JK, Velagaleti GV. Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype. Am J Med Genet A. 2005 Dec 01; 139A(2):136-40. PMID: 16278888.
      Citations: 1     Fields:    Translation:HumansCells
    621. Lee JA, Cheung SW, Ward PA, Inoue K, Lupski JR. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Prenat Diagn. 2005 Dec; 25(13):1188-91. PMID: 16353282.
      Citations: 6     Fields:    Translation:Humans
    622. Lupski JR, Stankiewicz P. Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet. 2005 Dec; 1(6):e49. PMID: 16444292; PMCID: PMC1352149.
      Citations: 245     Fields:    Translation:HumansCells
    623. Borg K, Stankiewicz P, Bocian E, Kruczek A, Obersztyn E, Lupski JR, Mazurczak T. Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation. Hum Genet. 2005 Nov; 118(2):267-75. PMID: 16160854.
      Citations: 16     Fields:    Translation:HumansCells
    624. Janecke AR, Lange J, Feathers KL, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A, Thompson DA, H?bner CA. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet. 2005 Dec 15; 14(24):3865-75. PMID: 16269441.
      Citations: 42     Fields:    Translation:HumansAnimalsCells
    625. Yatsenko SA, Treadwell-Deering D, Krull K, Lewis RA, Glaze D, Stankiewicz P, Lupski JR, Potocki L. Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications. Am J Med Genet A. 2005 Oct 01; 138A(2):175-80. PMID: 16152635.
      Citations: 9     Fields:    Translation:HumansCells
    626. Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR. Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet. 2005 Nov; 77(5):841-50. PMID: 16252242; PMCID: PMC1271391.
      Citations: 42     Fields:    Translation:HumansCells
    627. Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, Copp AJ, Eliot MM, Lupski JR, Kemp DT, Tada M, Katsanis N, Forge A, Beales PL, Dollfus H. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet. 2005 Oct; 37(10):1135-40. PMID: 16170314.
      Citations: 290     Fields:    Translation:AnimalsCells
    628. Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I. Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia. Am J Med Genet A. 2005 Sep 15; 138(1):11-7. PMID: 16097007.
      Citations: 11     Fields:    Translation:HumansCells
    629. Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Okamoto N, Lupski JR, H?glund P. Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med. 2005 Sep; 7(7):479-83. PMID: 16170239.
      Citations: 25     Fields:    Translation:Humans
    630. Wiszniewski W, Zaremba CM, Yatsenko AN, Jamrich M, Wensel TG, Lewis RA, Lupski JR. ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. Hum Mol Genet. 2005 Oct 01; 14(19):2769-78. PMID: 16103129.
      Citations: 47     Fields:    Translation:HumansAnimalsCells
    631. Bien-Willner GA, Stankiewicz P, Lupski JR, Northup JK, Velagaleti GV. Interphase FISH screening for the LCR-mediated common rearrangement of isochromosome 17q in primary myelofibrosis. Am J Hematol. 2005 Aug; 79(4):309-13. PMID: 16044457.
      Citations: 5     Fields:    Translation:HumansCells
    632. Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med. 2005 Jul-Aug; 7(6):422-32. PMID: 16024975.
      Citations: 93     Fields:    Translation:HumansCells
    633. Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, Bibat G, Patel A, Leroy JG, Scaglia F, Stankiewicz P, Lupski JR. Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet. 2005 Apr; 42(4):328-35. PMID: 15805160; PMCID: PMC1736036.
      Citations: 15     Fields:    Translation:HumansCells
    634. Claramunt R, Pedrola L, Sevilla T, Berciano J, Cuesta A, Saifi GM, Lupski JR, Palau F, L?pez de Munain A, S?nchez-Navarro B, Mill?n JM, V?lchez JJ, Espin?s C. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet. 2005 Apr; 42(4):358-65. PMID: 15805163; PMCID: PMC1736030.
      Citations: 45     Fields:    Translation:Humans
    635. Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR. SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat. 2005 Apr; 25(4):372-83. PMID: 15776429.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    636. Bi W, Ohyama T, Nakamura H, Yan J, Visvanathan J, Justice MJ, Lupski JR. Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. Hum Mol Genet. 2005 Apr 15; 14(8):983-95. PMID: 15746153.
      Citations: 44     Fields:    Translation:AnimalsCells
    637. El-Khamisy SF, Saifi GM, Weinfeld M, Johansson F, Helleday T, Lupski JR, Caldecott KW. Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature. 2005 Mar 03; 434(7029):108-13. PMID: 15744309.
      Citations: 206     Fields:    Translation:HumansCells
    638. Mishaan AM, Mason EO, Martinez-Aguilar G, Hammerman W, Propst JJ, Lupski JR, Stankiewicz P, Kaplan SL, Hulten K. Emergence of a predominant clone of community-acquired Staphylococcus aureus among children in Houston, Texas. Pediatr Infect Dis J. 2005 Mar; 24(3):201-6. PMID: 15750454.
      Citations: 24     Fields:    Translation:HumansCells
    639. Velagaleti GV, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, Withers M, Lupski JR, Stankiewicz P. Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet. 2005 Apr; 76(4):652-62. PMID: 15726498; PMCID: PMC1199302.
      Citations: 59     Fields:    Translation:HumansCells
    640. Shen JJ, Kurotaki N, Patel A, Lupski JR, Brown CW. Low factor XII level in an individual with Sotos syndrome. Pediatr Blood Cancer. 2005 Feb; 44(2):187-9. PMID: 15390361.
      Citations:    Fields:    Translation:Humans
    641. Zhou T, Lee JW, Tatavarthi H, Lupski JR, Valerie K, Povirk LF. Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1). Nucleic Acids Res. 2005; 33(1):289-97. PMID: 15647511; PMCID: PMC546157.
      Citations: 73     Fields:    Translation:HumansCells
    642. Straussberg R, Basel-Vanagaite L, Kivity S, Dabby R, Cirak S, Nurnberg P, Voit T, Mahajnah M, Inbar D, Saifi GM, Lupski JR, Delague V, Megarbane A, Richter A, Leshinsky E, Berkovic SF. An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology. 2005 Jan 11; 64(1):142-4. PMID: 15642921.
      Citations: 3     Fields:    Translation:Humans
    643. Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupski JR. Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. Hum Mol Genet. 2005 Feb 15; 14(4):535-42. PMID: 15640245.
      Citations: 22     Fields:    Translation:HumansCells
    644. Yatsenko AN, Wiszniewski W, Zaremba CM, Jamrich M, Lupski JR. Evolution of ABCA4 proteins in vertebrates. J Mol Evol. 2005 Jan; 60(1):72-80. PMID: 15696369.
      Citations: 6     Fields:    Translation:AnimalsCells
    645. Healy M, Huong J, Bittner T, Lising M, Frye S, Raza S, Schrock R, Manry J, Renwick A, Nieto R, Woods C, Versalovic J, Lupski JR. Microbial DNA typing by automated repetitive-sequence-based PCR. J Clin Microbiol. 2005 Jan; 43(1):199-207. PMID: 15634972; PMCID: PMC540112.
      Citations: 100     Fields:    Translation:HumansCells
    646. Szigeti K, Sule N, Adesina AM, Armstrong DL, Saifi GM, Bonilla E, Hirano M, Lupski JR. Increased blood-brain barrier permeability with thymidine phosphorylase deficiency. Ann Neurol. 2004 Dec; 56(6):881-6. PMID: 15562405.
      Citations: 15     Fields:    Translation:Humans
    647. Stankiewicz P, Shaw CJ, Withers M, Inoue K, Lupski JR. Serial segmental duplications during primate evolution result in complex human genome architecture. Genome Res. 2004 Nov; 14(11):2209-20. PMID: 15520286; PMCID: PMC525679.
      Citations: 53     Fields:    Translation:HumansAnimalsCells
    648. Shaw CJ, Lupski JR. Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Hum Genet. 2005 Jan; 116(1-2):1-7. PMID: 15526218.
      Citations: 48     Fields:    Translation:HumansCells
    649. Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR. Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet. 2004 Nov; 115(6):515-24. PMID: 15565467.
      Citations: 43     Fields:    Translation:HumansAnimalsCells
    650. Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR. Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. Hum Mol Genet. 2004 Nov 01; 13(21):2613-24. PMID: 15459175.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    651. Lupski JR. Hotspots of homologous recombination in the human genome: not all homologous sequences are equal. Genome Biol. 2004; 5(10):242. PMID: 15461806; PMCID: PMC545587.
      Citations: 39     Fields:    Translation:HumansAnimals
    652. Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet. 2004 Sep; 36(9):994-8. PMID: 15322545.
      Citations: 161     Fields:    Translation:HumansAnimalsCells
    653. Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Neurology. 2004 Aug 10; 63(3):577-80. PMID: 15304601.
      Citations: 19     Fields:    Translation:HumansCells
    654. Yatsenko SA, Yatsenko AN, Szigeti K, Craigen WJ, Stankiewicz P, Cheung SW, Lupski JR. Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clin Genet. 2004 Aug; 66(2):128-36. PMID: 15253763.
      Citations: 12     Fields:    Translation:HumansCells
    655. Shaw CJ, Withers MA, Lupski JR. Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. Am J Hum Genet. 2004 Jul; 75(1):75-81. PMID: 15148657; PMCID: PMC1182010.
      Citations: 25     Fields:    Translation:HumansCells
    656. Shaw CJ, Stankiewicz P, Bien-Willner G, Bello SC, Shaw CA, Carrera M, Perez Jurado L, Estivill X, Lupski JR. Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. Hum Genet. 2004 Jun; 115(1):1-7. PMID: 15098121.
      Citations: 5     Fields:    Translation:HumansCells
    657. Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin JD, Mancias P, Butler IJ, Wilkinson MF, Wegner M, Lupski JR. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet. 2004 Apr; 36(4):361-9. PMID: 15004559.
      Citations: 179     Fields:    Translation:HumansCells
    658. Shaw CJ, Lupski JR. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet. 2004 Apr 01; 13 Spec No 1:R57-64. PMID: 14764619.
      Citations: 173     Fields:    Translation:HumansCells
    659. Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet. 2004 Feb; 41(2):113-9. PMID: 14757858; PMCID: PMC1735660.
      Citations: 24     Fields:    Translation:HumansCells
    660. Szigeti K, Wong LJ, Perng CL, Saifi GM, Eldin K, Adesina AM, Cass DL, Hirano M, Lupski JR, Scaglia F. MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. J Med Genet. 2004 Feb; 41(2):125-9. PMID: 14757860; PMCID: PMC1735672.
      Citations: 14     Fields:    Translation:HumansCells
    661. Midro AT, Panasiuk B, Stankiewicz P, Silahtaroglu A, Lupski JR, Zemanova Z, Stasiewicz-Jarocka B, Hubert E, Famulski W, Zadrozna-Tolwinska B, Wasilewska E, Kirchhoff M, Kalscheuer V, Michalova K, Tommerup N, T?mer Z, Taras?w E. Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. Am J Med Genet A. 2004 Jan 15; 124A(2):179-91. PMID: 14699618.
      Citations: 7     Fields:    Translation:HumansCells
    662. Shaw CJ, Stankiewicz P, Christodoulou J, Smith E, Jones K, Lupski JR. A girl with duplication 17p10-p12 associated with a dicentric chromosome. Am J Med Genet A. 2004 Jan 15; 124A(2):173-8. PMID: 14699617.
      Citations: 6     Fields:    Translation:HumansCells
    663. Walz K, Spencer C, Kaasik K, Lee CC, Lupski JR, Paylor R. Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). Hum Mol Genet. 2004 Feb 15; 13(4):367-78. PMID: 14709593.
      Citations: 32     Fields:    Translation:HumansAnimalsCells
    664. Eichers ER, Lewis RA, Katsanis N, Lupski JR. Triallelic inheritance: a bridge between Mendelian and multifactorial traits. Ann Med. 2004; 36(4):262-72. PMID: 15224652.
      Citations: 25     Fields:    Translation:Humans
    665. Toki F, Suzuki N, Inoue K, Suzuki M, Hirakata K, Nagai K, Kuroiwa M, Lupski JR, Tsuchida Y. Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature. Pediatr Surg Int. 2003 Dec; 19(11):725-8. PMID: 14691634.
      Citations: 11     Fields:    Translation:Humans
    666. Barbouti A, Stankiewicz P, Nusbaum C, Cuomo C, Cook A, Johansson B, Hagemeijer A, Park SS, Mitelman F, Lupski JR, Fioretos T, H?glund M. The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats. Am J Hum Genet. 2004 Jan; 74(1):1-10. PMID: 14666446; PMCID: PMC1181896.
      Citations: 56     Fields:    Translation:HumansCells
    667. Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR. Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2. Am J Hum Genet. 2003 Dec; 73(6):1302-15. PMID: 14639526; PMCID: PMC1180396.
      Citations: 44     Fields:    Translation:HumansCells
    668. Shen JJ, Brown CA, Lupski JR, Potocki L. Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J Med Genet. 2003 Nov; 40(11):854-7. PMID: 14627682; PMCID: PMC1735303.
      Citations: 18     Fields:    Translation:Humans
    669. Jaakson K, Zernant J, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FP, Allikmets R, K?lm M. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat. 2003 Nov; 22(5):395-403. PMID: 14517951.
      Citations: 103     Fields:    Translation:Humans
    670. Potocki L, Shaw CJ, Stankiewicz P, Lupski JR. Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med. 2003 Nov-Dec; 5(6):430-4. PMID: 14614393.
      Citations: 43     Fields:    Translation:HumansCells
    671. Yan J, Walz K, Nakamura H, Carattini-Rivera S, Zhao Q, Vogel H, Wei N, Justice MJ, Bradley A, Lupski JR. COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast. Mol Cell Biol. 2003 Oct; 23(19):6798-808. PMID: 12972600; PMCID: PMC193933.
      Citations: 51     Fields:    Translation:AnimalsCells
    672. Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR. Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol. 2003 Sep; 54(3):398-402. PMID: 12953275.
      Citations: 5     Fields:    Translation:HumansCells
    673. Saifi GM, Szigeti K, Snipes GJ, Garcia CA, Lupski JR. Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies. J Investig Med. 2003 Sep; 51(5):261-83. PMID: 14577517.
      Citations: 22     Fields:    Translation:Humans
    674. Hanson M, Lupski JR, Hicks J, Metry D. Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. Arch Dermatol. 2003 Jul; 139(7):916-20. PMID: 12873889.
      Citations: 13     Fields:    Translation:HumansCells
    675. Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. An ABCA4 genomic deletion in patients with Stargardt disease. Hum Mutat. 2003 Jun; 21(6):636-44. PMID: 12754711.
      Citations: 15     Fields:    Translation:HumansCells
    676. Inoue K, Lupski JR. Genetics and genomics of behavioral and psychiatric disorders. Curr Opin Genet Dev. 2003 Jun; 13(3):303-9. PMID: 12787794.
      Citations: 13     Fields:    Translation:HumansAnimals
    677. Walz K, Caratini-Rivera S, Bi W, Fonseca P, Mansouri DL, Lynch J, Vogel H, Noebels JL, Bradley A, Lupski JR. Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol Cell Biol. 2003 May; 23(10):3646-55. PMID: 12724422; PMCID: PMC154242.
      Citations: 40     Fields:    Translation:HumansAnimalsCells
    678. Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet. 2003 May; 72(5):1187-99. PMID: 12677556; PMCID: PMC1180271.
      Citations: 97     Fields:    Translation:HumansCells
    679. Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet. 2003 May; 72(5):1101-16. PMID: 12649807; PMCID: PMC1180264.
      Citations: 73     Fields:    Translation:HumansCells
    680. Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR. CMT4A: identification of a Hispanic GDAP1 founder mutation. Ann Neurol. 2003 Mar; 53(3):400-5. PMID: 12601710.
      Citations: 16     Fields:    Translation:Humans
    681. Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain. 2003 Mar; 126(Pt 3):590-7. PMID: 12566280.
      Citations: 91     Fields:    Translation:HumansCells
    682. Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N, Badano JL. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet. 2003 Mar; 72(3):650-8. PMID: 12567324; PMCID: PMC1180240.
      Citations: 82     Fields:    Translation:HumansCells
    683. Lupski JR. 2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture. Am J Hum Genet. 2003 Feb; 72(2):246-52. PMID: 12596790; PMCID: PMC379220.
      Citations: 19     Fields:    Translation:HumansCells
    684. Stankiewicz P, Cheung SW, Shaw CJ, Saleki R, Szigeti K, Lupski JR. The donor chromosome breakpoint for a jumping translocation is associated with large low-copy repeats in 21q21.3. Cytogenet Genome Res. 2003; 101(2):118-23. PMID: 14610351.
      Citations: 3     Fields:    Translation:HumansCells
    685. Stankiewicz P, Inoue K, Bi W, Walz K, Park SS, Kurotaki N, Shaw CJ, Fonseca P, Yan J, Lee JA, Khajavi M, Lupski JR. Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits. Cold Spring Harb Symp Quant Biol. 2003; 68:445-54. PMID: 15338647.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    686. Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP. Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann Neurol. 2002 Dec; 52(6):836-42. PMID: 12447940.
      Citations: 35     Fields:    Translation:Humans
    687. Schlesinger AE, Potocki L, Poznanski AK, Lupski JR. The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis. Pediatr Radiol. 2003 Mar; 33(3):173-6. PMID: 12612815.
      Citations: 1     Fields:    Translation:HumansCells
    688. Katsanis N, Worley KC, Gonzalez G, Ansley SJ, Lupski JR. A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes. Proc Natl Acad Sci U S A. 2002 Oct 29; 99(22):14326-31. PMID: 12391299; PMCID: PMC137883.
      Citations: 11     Fields:    Translation:HumansCells
    689. Shaw CJ, Bi W, Lupski JR. Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am J Hum Genet. 2002 Nov; 71(5):1072-81. PMID: 12375235; PMCID: PMC420000.
      Citations: 36     Fields:    Translation:HumansCells
    690. Shlush LI, Behar DM, Zelazny A, Keller N, Lupski JR, Beaudet AL, Bercovich D. Molecular epidemiological analysis of the changing nature of a meningococcal outbreak following a vaccination campaign. J Clin Microbiol. 2002 Oct; 40(10):3565-71. PMID: 12354847; PMCID: PMC130885.
      Citations: 9     Fields:    Translation:HumansCellsPHPublic Health
    691. Inoue K, Osaka H, Thurston VC, Clarke JT, Yoneyama A, Rosenbarker L, Bird TD, Hodes ME, Shaffer LG, Lupski JR. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet. 2002 Oct; 71(4):838-53. PMID: 12297985; PMCID: PMC378540.
      Citations: 74     Fields:    Translation:HumansCells
    692. Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet. 2002 Oct; 32(2):267-72. PMID: 12244316.
      Citations: 238     Fields:    Translation:HumansCells
    693. Bejjani BA, Xu L, Armstrong D, Lupski JR, Reneker LW. Expression patterns of cytochrome P4501B1 (Cyp1b1) in FVB/N mouse eyes. Exp Eye Res. 2002 Sep; 75(3):249-57. PMID: 12384088.
      Citations: 15     Fields:    Translation:Animals
    694. Lupski JR. Introduction of Arthur L. Beaudet, Harland Sanders Award recipient. Genet Med. 2002 Sep-Oct; 4(5):396-8. PMID: 12394354.
      Citations:    Fields:    
    695. Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Williams A, Brophy PJ, Timmerman V, Lupski JR, Schr?der JM. Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Ann Neurol. 2002 Jun; 51(6):709-15. PMID: 12112076.
      Citations: 35     Fields:    Translation:HumansCells
    696. Stankiewicz P, Lupski JR. Molecular-evolutionary mechanisms for genomic disorders. Curr Opin Genet Dev. 2002 Jun; 12(3):312-9. PMID: 12076675.
      Citations: 49     Fields:    Translation:HumansAnimalsCells
    697. Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Hoskins BE, Scambler PJ, Beales PL, Lupski JR, Kayserili H. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet. 2002 Jul; 71(1):22-9. PMID: 12016587; PMCID: PMC384990.
      Citations: 47     Fields:    Translation:HumansCells
    698. Smith AC, Gropman AL, Bailey-Wilson JE, Goker-Alpan O, Elsea SH, Blancato J, Lupski JR, Potocki L. Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med. 2002 May-Jun; 4(3):118-25. PMID: 12180145.
      Citations: 22     Fields:    Translation:HumansCells
    699. Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res. 2002 May; 12(5):713-28. PMID: 11997338; PMCID: PMC186594.
      Citations: 41     Fields:    Translation:HumansAnimalsCells
    700. Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B, Lupski JR. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res. 2002 May; 12(5):729-38. PMID: 11997339; PMCID: PMC186597.
      Citations: 37     Fields:    Translation:HumansCells
    701. Campbell HD, Fountain S, McLennan IS, Berven LA, Crouch MF, Davy DA, Hooper JA, Waterford K, Chen KS, Lupski JR, Ledermann B, Young IG, Matthaei KI. Fliih, a gelsolin-related cytoskeletal regulator essential for early mammalian embryonic development. Mol Cell Biol. 2002 May; 22(10):3518-26. PMID: 11971982; PMCID: PMC133791.
      Citations: 32     Fields:    Translation:HumansAnimalsCells
    702. Inoue K, Lupski JR. Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet. 2002; 3:199-242. PMID: 12142364.
      Citations: 111     Fields:    Translation:HumansAnimals
    703. Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am J Hum Genet. 2002 Apr; 70(4):955-64. PMID: 11868161; PMCID: PMC379124.
      Citations: 33     Fields:    Translation:HumansCells
    704. Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol. 2002 Feb; 51(2):190-201. PMID: 11835375.
      Citations: 64     Fields:    Translation:Humans
    705. Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet. 2002 Feb; 18(2):74-82. PMID: 11818139.
      Citations: 367     Fields:    Translation:HumansCells
    706. Bernstein PS, Leppert M, Singh N, Dean M, Lewis RA, Lupski JR, Allikmets R, Seddon JM. Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings. Invest Ophthalmol Vis Sci. 2002 Feb; 43(2):466-73. PMID: 11818392.
      Citations: 7     Fields:    Translation:Humans
    707. Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW, Andr? JL, Fr?nd S, Spranger J. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet. 2002 Feb; 30(2):215-20. PMID: 11799392.
      Citations: 132     Fields:    Translation:HumansAnimalsCells
    708. Friedman TB, Hinnant JT, Ghosh M, Boger ET, Riazuddin S, Lupski JR, Potocki L, Wilcox ER. DFNB3, spectrum of MYO15A recessive mutant alleles and an emerging genotype-phenotype correlation. Adv Otorhinolaryngol. 2002; 61:124-30. PMID: 12408074.
      Citations: 8     Fields:    Translation:Humans
    709. Boerkoel CF, Takashima H, Lupski JR. The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy. Curr Neurol Neurosci Rep. 2002 Jan; 2(1):70-7. PMID: 11898586.
      Citations: 3     Fields:    Translation:HumansCells
    710. Versalovic J, Lupski JR. Molecular detection and genotyping of pathogens: more accurate and rapid answers. Trends Microbiol. 2002; 10(10 Suppl):S15-21. PMID: 12377563.
      Citations: 34     Fields:    Translation:HumansCells
    711. Inoue K, Tanaka H, Scaglia F, Araki A, Shaffer LG, Lupski JR. Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. Ann Neurol. 2001 Dec; 50(6):747-54. PMID: 11761472.
      Citations: 11     Fields:    Translation:HumansCells
    712. Inoue K, Kanai M, Tanabe Y, Kubota T, Kashork CD, Wakui K, Fukushima Y, Lupski JR, Shaffer LG. Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease. Prenat Diagn. 2001 Dec; 21(13):1133-6. PMID: 11787038.
      Citations: 10     Fields:    Translation:HumansCells
    713. Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR. Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum Mol Genet. 2001 Nov 01; 10(23):2671-8. PMID: 11726554.
      Citations: 53     Fields:    Translation:HumansCells
    714. Stankiewicz P, Parka SS, Holder SE, Waters CS, Palmer RW, Berend SA, Shaffer LG, Potocki L, Lupski JR. Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype. Clin Genet. 2001 Nov; 60(5):336-44. PMID: 11903333.
      Citations: 10     Fields:    Translation:HumansCells
    715. Shroyer NF, Lewis RA, Yatsenko AN, Lupski JR. Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2001 Nov; 42(12):2757-61. PMID: 11687513.
      Citations: 34     Fields:    Translation:Humans
    716. Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet. 2001 Nov; 109(5):535-41. PMID: 11735029.
      Citations: 54     Fields:    Translation:HumansAnimalsCells
    717. Katsanis N, Lupski JR, Beales PL. Exploring the molecular basis of Bardet-Biedl syndrome. Hum Mol Genet. 2001 Oct 01; 10(20):2293-9. PMID: 11673413.
      Citations: 42     Fields:    Translation:Humans
    718. Stockton DW, Meade RA, Netscher DT, Epstein MJ, Shenaq SM, Shaffer LG, Lupski JR. Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome. Arch Neurol. 2001 Oct; 58(10):1635-7. PMID: 11594922.
      Citations: 2     Fields:    Translation:HumansCells
    719. Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science. 2001 Sep 21; 293(5538):2256-9. PMID: 11567139.
      Citations: 220     Fields:    Translation:HumansCells
    720. Takashima H, Boerkoel CF, Lupski JR. Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy. Genet Med. 2001 Sep-Oct; 3(5):335-42. PMID: 11545686.
      Citations: 7     Fields:    Translation:HumansCells
    721. Katsanis N, Worley KC, Lupski JR. An evaluation of the draft human genome sequence. Nat Genet. 2001 Sep; 29(1):88-91. PMID: 11528399.
      Citations: 6     Fields:    Translation:HumansCells
    722. Kamnasaran D, O'Brien PC, Schuffenhauer S, Quarrell O, Lupski JR, Grammatico P, Ferguson-Smith MA, Cox DW. Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes. Am J Med Genet. 2001 Aug 01; 102(2):173-82. PMID: 11477612.
      Citations: 10     Fields:    Translation:HumansCells
    723. Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR. EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics. 2001 Jul; 3(3):153-7. PMID: 11523566.
      Citations: 20     Fields:    Translation:HumansCells
    724. Stankiewicz P, Park SS, Inoue K, Lupski JR. The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res. 2001 Jul; 11(7):1205-10. PMID: 11435402; PMCID: PMC311135.
      Citations: 37     Fields:    Translation:HumansAnimalsCells
    725. Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res. 2001 Jun; 11(6):1018-33. PMID: 11381029; PMCID: PMC311111.
      Citations: 50     Fields:    Translation:HumansAnimalsCells
    726. Shroyer NF, Lewis RA, Lupski JR. Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? Am J Ophthalmol. 2001 Jun; 131(6):761-6. PMID: 11384574.
      Citations: 29     Fields:    Translation:Humans
    727. Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet. 2001 Jun; 59(6):424-9. PMID: 11453974.
      Citations: 27     Fields:    Translation:HumansCells
    728. Badano JL, Inoue K, Katsanis N, Lupski JR. New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis. Clin Chem. 2001 May; 47(5):838-43. PMID: 11325886.
      Citations: 9     Fields:    Translation:HumansCells
    729. Liehr T, Reiter LT, Lupski JR, Murakami T, Claussen U, Rautenstrauss B. Regional localization of 10 mariner transposon-like ESTs by means of FISH--evidence for a correlation with fragile sites. Mamm Genome. 2001 Apr; 12(4):326-8. PMID: 11309667.
      Citations:    Fields:    Translation:HumansCells
    730. Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). Hum Genet. 2001 Apr; 108(4):346-55. PMID: 11379881.
      Citations: 60     Fields:    Translation:Humans
    731. Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR. Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics. 2001 Mar; 3(2):107-9. PMID: 11354824.
      Citations: 8     Fields:    Translation:HumansCells
    732. Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am J Hum Genet. 2001 Mar; 68(3):606-16. PMID: 11179009; PMCID: PMC1274474.
      Citations: 20     Fields:    Translation:HumansCells
    733. Edelmann L, Stankiewicz P, Spiteri E, Pandita RK, Shaffer L, Lupski JR, Morrow BE, Lupski J. Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. Genome Res. 2001 Feb; 11(2):208-17. PMID: 11157784; PMCID: PMC311013.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    734. Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb; 68(2):325-33. PMID: 11133365; PMCID: PMC1235266.
      Citations: 50     Fields:    Translation:HumansAnimalsCells
    735. Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet. 2000 Sep; 26(1):67-70. PMID: 10973251.
      Citations: 90     Fields:    Translation:HumansCells
    736. Britton RA, Chen SM, Wallis D, Koeuth T, Powell BS, Shaffer LG, Largaespada D, Jenkins NA, Copeland NG, Court DL, Lupski JR. Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era. Genomics. 2000 Jul 01; 67(1):78-82. PMID: 10945472.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    737. Lewis RA, Lupski JR. Macular degeneration: the emerging genetics. Hosp Pract (1995). 2000 Jun 15; 35(6):41-50, 56-8. PMID: 10884818.
      Citations: 3     Fields:    Translation:Humans
    738. Lupski JR. Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L) Am J Hum Genet. 2000 Jul; 67(1):8-10. PMID: 10848490; PMCID: PMC1287104.
      Citations: 7     Fields:    Translation:HumansCells
    739. Potocki L, Glaze D, Tan DX, Park SS, Kashork CD, Shaffer LG, Reiter RJ, Lupski JR. Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet. 2000 Jun; 37(6):428-33. PMID: 10851253; PMCID: PMC1734604.
      Citations: 53     Fields:    Translation:HumansCells
    740. Abidari JM, Gonzales ET, Inoue K, Lupski JR, Karsenty G, Katsanis N. Identification of novel genes expressed during metanephric induction through single-cell library screening. Kidney Int. 2000 Jun; 57(6):2221-8. PMID: 10844592.
      Citations: 1     Fields:    Translation:AnimalsCells
    741. Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet. 2000 Feb 12; 9(3):367-74. PMID: 10655546.
      Citations: 80     Fields:    Translation:HumansCells
    742. Shroyer NF, Lewis RA, Lupski JR. Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. Hum Genet. 2000 Feb; 106(2):244-8. PMID: 10746567.
      Citations: 10     Fields:    Translation:HumansCells
    743. Gutierrez A, England JD, Sumner AJ, Ferer S, Warner LE, Lupski JR, Garcia CA. Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle Nerve. 2000 Feb; 23(2):182-8. PMID: 10639608.
      Citations: 21     Fields:    Translation:HumansCellsCTClinical Trials
    744. Katsanis N, Venable S, Smith JR, Lupski JR. Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. Hum Genet. 2000 Jan; 106(1):66-72. PMID: 10982184.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    745. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet. 2000 Jan; 24(1):84-7. PMID: 10615134.
      Citations: 119     Fields:    Translation:HumansCells
    746. Lupski JR. Recessive Charcot-Marie-tooth disease. Ann Neurol. 2000 Jan; 47(1):6-8. PMID: 10632095.
      Citations: 1     Fields:    Translation:Humans
    747. Shaffer LG, Lupski JR. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet. 2000; 34:297-329. PMID: 11092830.
      Citations: 116     Fields:    Translation:Humans
    748. Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. Am J Hum Genet. 1999 Dec; 65(6):1672-9. PMID: 10577921; PMCID: PMC1288378.
      Citations: 8     Fields:    Translation:HumansCells
    749. Boerkoel CF, Inoue K, Reiter LT, Warner LE, Lupski JR. Molecular Mechanisms for CMT1A Duplication and HNPP Deletion. Ann N Y Acad Sci. 1999 Oct; 883(1):22-35. PMID: 29086952.
      Citations:    Fields:    
    750. Kashork CD, Chen KS, Lupski JR, Shaffer LG. Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A. Ann N Y Acad Sci. 1999 Oct; 883(1):457-459. PMID: 29086957.
      Citations:    Fields:    
    751. Kashork CD, Chen KS, Lupski JR, Shaffer LG. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A. Ann N Y Acad Sci. 1999 Sep 14; 883:457-9. PMID: 10586272.
      Citations:    Fields:    Translation:HumansCells
    752. Boerkoel CF, Inoue K, Reiter LT, Warner LE, Lupski JR. Molecular mechanisms for CMT1A duplication and HNPP deletion. Ann N Y Acad Sci. 1999 Sep 14; 883:22-35. PMID: 10586226.
      Citations: 11     Fields:    Translation:Humans
    753. Inoue K, Tanabe Y, Lupski JR. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann Neurol. 1999 Sep; 46(3):313-8. PMID: 10482261.
      Citations: 51     Fields:    Translation:Humans
    754. Reiter LT, Liehr T, Rautenstrauss B, Robertson HM, Lupski JR. Localization of mariner DNA transposons in the human genome by PRINS. Genome Res. 1999 Sep; 9(9):839-43. PMID: 10508842; PMCID: PMC310809.
      Citations: 5     Fields:    Translation:HumansCells
    755. Nagaya T, Chen KS, Fujieda M, Ohmori S, Richer JK, Horwitz KB, Lupski JR, Seo H. Localization of the human nuclear receptor corepressor (hN-CoR) gene between the CMT1A and the SMS critical regions of chromosome 17p11.2. Genomics. 1999 Aug 01; 59(3):339-41. PMID: 10444336.
      Citations:    Fields:    Translation:HumansAnimalsCells
    756. Shroyer NF, Lewis RA, Allikmets R, Singh N, Dean M, Leppert M, Lupski JR. The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. Vision Res. 1999 Jul; 39(15):2537-44. PMID: 10396622.
      Citations: 52     Fields:    Translation:HumansCells
    757. Warner LE, Svaren J, Milbrandt J, Lupski JR. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet. 1999 Jul; 8(7):1245-51. PMID: 10369870.
      Citations: 35     Fields:    Translation:HumansAnimalsCells
    758. Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C, L?fgren A. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology. 1999 Jun 10; 52(9):1827-32. PMID: 10371530.
      Citations: 33     Fields:    Translation:HumansCells
    759. Liehr T, Wulf P, Taylor V, Suter U, Van Broeckhoven C, Lupski JR, Claussen U, Rautenstrauss B, Kuhlenb?umer G. Regional localization of the human epithelial membrane protein genes 1, 2, and 3 (EMP1, EMP2, EMP3) to 12p12.3, 16p13.2, and 19q13.3. Genomics. 1999 May 15; 58(1):106-8. PMID: 10331954.
      Citations: 11     Fields:    Translation:HumansCells
    760. Inoue K, Osaka H, Imaizumi K, Nezu A, Takanashi J, Arii J, Murayama K, Ono J, Kikawa Y, Mito T, Shaffer LG, Lupski JR. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann Neurol. 1999 May; 45(5):624-32. PMID: 10319885.
      Citations: 35     Fields:    Translation:Humans
    761. Kashork CD, Lupski JR, Shaffer LG. Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization. Prenat Diagn. 1999 May; 19(5):446-9. PMID: 10360513.
      Citations: 1     Fields:    Translation:Humans
    762. Potocki L, Chen KS, Lupski JR. Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2. Genomics. 1999 Apr 01; 57(1):180-2. PMID: 10191102.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    763. Phillips JP, Warner LE, Lupski JR, Garg BP. Congenital hypomyelinating neuropathy: two patients with long-term follow-up. Pediatr Neurol. 1999 Mar; 20(3):226-32. PMID: 10207934.
      Citations: 7     Fields:    Translation:Humans
    764. Lupski JR. Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity. Pediatr Res. 1999 Feb; 45(2):159-65. PMID: 10022584.
      Citations: 14     Fields:    Translation:HumansCells
    765. Probst FJ, Chen KS, Zhao Q, Wang A, Friedman TB, Lupski JR, Camper SA. A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2). Genomics. 1999 Feb 01; 55(3):348-52. PMID: 10049592.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    766. Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M. Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet. 1999 Feb; 64(2):422-34. PMID: 9973280; PMCID: PMC1377752.
      Citations: 115     Fields:    Translation:HumansCells
    767. Potocki L, Chen KS, Koeuth T, Killian J, Iannaccone ST, Shapira SK, Kashork CD, Spikes AS, Shaffer LG, Lupski JR. DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome. Am J Hum Genet. 1999 Feb; 64(2):471-8. PMID: 9973284; PMCID: PMC1377756.
      Citations: 28     Fields:    Translation:HumansCells
    768. Warner LE, Garcia CA, Lupski JR. Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms. Annu Rev Med. 1999; 50:263-75. PMID: 10073277.
      Citations: 26     Fields:    Translation:HumansCells
    769. King PH, Waldrop R, Lupski JR, Shaffer LG. Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome. Clin Genet. 1998 Nov; 54(5):413-6. PMID: 9842994.
      Citations: 3     Fields:    Translation:HumansCells
    770. Bejjani BA, Oberg KC, Wilkins I, Moise A, Langston C, Superti-Furga A, Lupski JR. Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1. Am J Med Genet. 1998 Oct 12; 79(5):392-5. PMID: 9779808.
      Citations: 2     Fields:    Translation:Humans
    771. Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 1998 Oct; 14(10):417-22. PMID: 9820031.
      Citations: 307     Fields:    Translation:Humans
    772. Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL, Lupski JR. A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum Genet. 1998 Sep; 103(3):328-33. PMID: 9799089.
      Citations: 17     Fields:    Translation:HumansCells
    773. Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am J Med Genet. 1998 Jun 16; 78(1):82-9. PMID: 9637430.
      Citations: 18     Fields:    Translation:HumansCells
    774. Rajashekara G, Koeuth T, Nevile S, Back A, Nagaraja KV, Lupski JR, Kapur V. SERE, a widely dispersed bacterial repetitive DNA element. J Med Microbiol. 1998 Jun; 47(6):489-97. PMID: 9879967.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    775. Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski JR. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet. 1998 May; 62(5):1023-33. PMID: 9545397; PMCID: PMC1377084.
      Citations: 54     Fields:    Translation:HumansCells
    776. Zhao Q, Chen KS, Bejjani BA, Lupski JR. Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179. Genomics. 1998 May 01; 49(3):394-400. PMID: 9615224.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    777. Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998 Apr; 18(4):382-4. PMID: 9537424.
      Citations: 111     Fields:    Translation:HumansCells
    778. Liang Y, Wang A, Probst FJ, Arhya IN, Barber TD, Chen KS, Deshmukh D, Dolan DF, Hinnant JT, Carter LE, Jain PK, Lalwani AK, Li XC, Lupski JR, Moeljopawiro S, Morell R, Negrini C, Wilcox ER, Winata S, Camper SA, Friedman TB. Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. Am J Hum Genet. 1998 Apr; 62(4):904-15. PMID: 9529344; PMCID: PMC1377026.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    779. Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet. 1998 Feb; 62(2):325-33. PMID: 9463332; PMCID: PMC1376900.
      Citations: 91     Fields:    Translation:HumansCells
    780. Britton RA, Powell BS, Dasgupta S, Sun Q, Margolin W, Lupski JR, Court DL. Cell cycle arrest in Era GTPase mutants: a potential growth rate-regulated checkpoint in Escherichia coli. Mol Microbiol. 1998 Feb; 27(4):739-50. PMID: 9515700.
      Citations: 47     Fields:    Translation:HumansCells
    781. Lupski JR. Charcot-Marie-Tooth disease: lessons in genetic mechanisms. Mol Med. 1998 Jan; 4(1):3-11. PMID: 9513184; PMCID: PMC2230264.
      Citations: 16     Fields:    Translation:HumansCells
    782. Chen KS, Manian P, Koeuth T, Potocki L, Zhao Q, Chinault AC, Lee CC, Lupski JR. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat Genet. 1997 Oct; 17(2):154-63. PMID: 9326934.
      Citations: 118     Fields:    Translation:HumansCells
    783. Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997 Sep 19; 277(5333):1805-7. PMID: 9295268.
      Citations: 264     Fields:    Translation:Humans
    784. Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet. 1997 Sep; 6(9):1595-603. PMID: 9285799.
      Citations: 26     Fields:    Translation:HumansCells
    785. Stockton DW, Ross HL, Bacino CA, Altman CA, Shaffer LG, Lupski JR. Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: a brief review. Am J Med Genet. 1997 Aug 08; 71(2):189-93. PMID: 9217220.
      Citations: 3     Fields:    Translation:HumansCells
    786. Britton RA, Powell BS, Court DL, Lupski JR. Characterization of mutations affecting the Escherichia coli essential GTPase era that suppress two temperature-sensitive dnaG alleles. J Bacteriol. 1997 Jul; 179(14):4575-82. PMID: 9226268; PMCID: PMC179294.
      Citations: 16     Fields:    Translation:Cells
    787. Lupski JR. Charcot-Marie-Tooth disease: a gene-dosage effect. Hosp Pract (1995). 1997 May 15; 32(5):83-4, 89-91, 94-5 passim. PMID: 9153141.
      Citations: 7     Fields:    Translation:Humans
    788. Campbell HD, Fountain S, Young IG, Claudianos C, Hoheisel JD, Chen KS, Lupski JR. Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL. Genomics. 1997 May 15; 42(1):46-54. PMID: 9177775.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    789. Murakami T, Reiter LT, Lupski JR. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. Genomics. 1997 May 15; 42(1):161-4. PMID: 9177788.
      Citations: 13     Fields:    Translation:HumansCells
    790. Britton RA, Lupski JR. Isolation and characterization of suppressors of two Escherichia coli dnaG mutations, dnaG2903 and parB. Genetics. 1997 Apr; 145(4):867-75. PMID: 9093842; PMCID: PMC1207892.
      Citations: 6     Fields:    Translation:Cells
    791. Shaffer LG, Kennedy GM, Spikes AS, Lupski JR. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet. 1997 Mar 31; 69(3):325-31. PMID: 9096765.
      Citations: 28     Fields:    Translation:HumansCells
    792. Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997 Mar; 15(3):236-46. PMID: 9054934.
      Citations: 486     Fields:    Translation:HumansAnimalsCells
    793. Versalovic J, Lupski JR. Missense mutations in the 3' end of the Escherichia coli dnaG gene do not abolish primase activity but do confer the chromosome-segregation-defective (par) phenotype. Microbiology (Reading). 1997 Feb; 143 ( Pt 2):585-594. PMID: 9043135.
      Citations: 8     Fields:    Translation:Cells
    794. Timmerman V, Rautenstrauss B, Reiter LT, Koeuth T, Liehr T, Nelis E, Bathke KD, De Jonghe P, Grehl H, Martin JJ, Lupski JR, Van Broeckhoven C, L?fgren A. Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. J Med Genet. 1997 Jan; 34(1):43-9. PMID: 9032649; PMCID: PMC1050846.
      Citations: 11     Fields:    Translation:HumansCells
    795. Warner LE, Shohat M, Shorer Z, Lupski JR. Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case. Hum Mutat. 1997; 10(1):21-4. PMID: 9222756.
      Citations: 6     Fields:    Translation:HumansCells
    796. Murakami T, Sun ZS, Lee CC, Lupski JR. Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Genomics. 1997 Jan 01; 39(1):99-103. PMID: 9027492.
      Citations: 1     Fields:    Translation:HumansCells
    797. Rautenstrauss B, Fuchs C, Liehr T, Grehl H, Murakami T, Lupski JR. Visualization of the CMT1A duplication and HNPP deletion by FISH on stretched chromosome fibers. J Peripher Nerv Syst. 1997; 2(4):319-22. PMID: 10975740.
      Citations: 2     Fields:    Translation:HumansCells
    798. Trask BJ, Mefford H, van den Engh G, Massa HF, Juyal RC, Potocki L, Finucane B, Abuelo DN, Witt DR, Magenis E, Baldini A, Greenberg F, Lupski JR, Patel PI. Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients. Hum Genet. 1996 Dec; 98(6):710-8. PMID: 8931707.
      Citations: 12     Fields:    Translation:HumansCells
    799. Anderson KL, Lewis RA, Bejjani BA, Baird L, Otterud B, Tomey KF, Astle WF, Dueker DK, Leppert M, Lupski JR. A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma. J Glaucoma. 1996 Dec; 5(6):416-21. PMID: 8946299.
      Citations: 2     Fields:    Translation:HumansCells
    800. Woods CR, Koeuth T, Estabrook MM, Lupski JR. Rapid determination of outbreak-related strains of Neisseria meningitidis by repetitive element-based polymerase chain reaction genotyping. J Infect Dis. 1996 Oct; 174(4):760-7. PMID: 8843214.
      Citations: 6     Fields:    Translation:HumansCellsPHPublic Health
    801. Murakami T, Garcia CA, Reiter LT, Lupski JR. Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine (Baltimore). 1996 Sep; 75(5):233-50. PMID: 8862346.
      Citations: 23     Fields:    Translation:HumansCells
    802. Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron. 1996 Sep; 17(3):451-60. PMID: 8816708.
      Citations: 82     Fields:    Translation:HumansCells
    803. Lupski JR. DNA diagnostics for Charcot-Marie-Tooth disease and related inherited neuropathies. Clin Chem. 1996 Jul; 42(7):995-8. PMID: 8674212.
      Citations: 3     Fields:    Translation:HumansCells
    804. Chen RM, Lupski JR, Greenberg F, Lewis RA. Ophthalmic manifestations of Smith-Magenis syndrome. Ophthalmology. 1996 Jul; 103(7):1084-91. PMID: 8684798.
      Citations: 9     Fields:    Translation:HumansCells
    805. Allerberger F, Koeuth T, Dierich MP, Putensen C, Scmutzhard E, Mohsenipour I, Grundmann H, Hartung D, Bauernfeind A, Eberlein E, Lupski JR, Lass-FL?rl C. Epidemiology of infections due to multiresistant Enterobacter aerogenes in a university hospital. Eur J Clin Microbiol Infect Dis. 1996 Jun; 15(6):517-21. PMID: 8839650.
      Citations: 5     Fields:    Translation:HumansCells
    806. Murakami T, Lupski JR. A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Genomics. 1996 May 15; 34(1):128-33. PMID: 8661034.
      Citations: 3     Fields:    Translation:HumansCells
    807. Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet. 1996 May; 58(5):998-1007. PMID: 8651284; PMCID: PMC1914618.
      Citations: 35     Fields:    Translation:HumansCells
    808. Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meck JM, Magenis RE, Shaffer LG, Lupski JR. Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy. Hum Genet. 1996 May; 97(5):642-9. PMID: 8655146.
      Citations: 15     Fields:    Translation:HumansCells
    809. Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) Am J Med Genet. 1996 Mar 29; 62(3):247-54. PMID: 8882782.
      Citations: 88     Fields:    Translation:HumansCells
    810. Reiter LT, Murakami T, Koeuth T, Pentao L, Muzny DM, Gibbs RA, Lupski JR. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet. 1996 Mar; 12(3):288-97. PMID: 8589720.
      Citations: 77     Fields:    Translation:HumansCells
    811. Lupski JR, Roth JR, Weinstock GM. Chromosomal duplications in bacteria, fruit flies, and humans. Am J Hum Genet. 1996 Jan; 58(1):21-7. PMID: 8554058; PMCID: PMC1914933.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    812. Shaffer LG, McCaskill C, Hersh JH, Greenberg F, Lupski JR. A clinical and molecular study of mosaicism for trisomy 17. Hum Genet. 1996 Jan; 97(1):69-72. PMID: 8557263.
      Citations: 7     Fields:    Translation:HumansCells
    813. Warner LE, Roa BB, Lupski JR. Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A. Hum Mutat. 1996; 8(4):362-5. PMID: 8956042.
      Citations: 7     Fields:    Translation:Humans
    814. Nelis E, Warner LE, Vriendt ED, Chance PF, Lupski JR, Van Broeckhoven C. Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies. Eur J Hum Genet. 1996; 4(6):329-33. PMID: 9043865.
      Citations: 6     Fields:    Translation:Humans
    815. Warner LE, Reiter LT, Murakami T, Lupski JR. Molecular mechanisms for Charcot-Marie-Tooth disease and related demyelinating peripheral neuropathies. Cold Spring Harb Symp Quant Biol. 1996; 61:659-71. PMID: 9246492.
      Citations: 2     Fields:    Translation:HumansAnimals
    816. Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum Mutat. 1996; 7(1):36-45. PMID: 8664899.
      Citations: 12     Fields:    Translation:HumansCells
    817. Killian JM, Tiwari PS, Jacobson S, Jackson RD, Lupski JR. Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve. 1996 Jan; 19(1):74-8. PMID: 8538673.
      Citations: 13     Fields:    Translation:Humans
    818. Anderson KL, Baird L, Lewis RA, Chinault AC, Otterud B, Leppert M, Lupski JR. A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. Am J Hum Genet. 1995 Dec; 57(6):1351-63. PMID: 8533764; PMCID: PMC1801408.
      Citations: 16     Fields:    Translation:HumansCells
    819. Juyal RC, Finucane B, Shaffer LG, Lupski JR, Greenberg F, Scott CI, Baldini A, Patel PI. Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. Am J Med Genet. 1995 Nov 20; 59(3):406-7. PMID: 8599375.
      Citations: 1     Fields:    Translation:HumansCells
    820. Koeuth T, Versalovic J, Lupski JR. Differential subsequence conservation of interspersed repetitive Streptococcus pneumoniae BOX elements in diverse bacteria. Genome Res. 1995 Nov; 5(4):408-18. PMID: 8750201.
      Citations: 68     Fields:    Translation:Cells
    821. Garcia CA, Malamut RE, England JD, Parry GS, Liu P, Lupski JR. Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. Neurology. 1995 Nov; 45(11):2090-3. PMID: 7501164.
      Citations: 24     Fields:    Translation:Humans
    822. Harvey BS, Koeuth T, Versalovic J, Woods CR, Lupski JR. Vertical transmission of Citrobacter diversus documented by DNA fingerprinting. Infect Control Hosp Epidemiol. 1995 Oct; 16(10):564-9. PMID: 8568200.
      Citations: 4     Fields:    Translation:HumansCellsPHPublic Health
    823. Warner LE, Roa BB, Lupski JR. Settling the myelin protein zero question in CMT1B. Nat Genet. 1995 Oct; 11(2):119-20. PMID: 7550336.
      Citations: 1     Fields:    Translation:HumansCells
    824. Juyal RC, Greenberg F, Mengden GA, Lupski JR, Trask BJ, van den Engh G, Lindsay EA, Christy H, Chen KS, Baldini A, et al. Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. Am J Med Genet. 1995 Sep 11; 58(3):286-91. PMID: 8533833.
      Citations: 3     Fields:    Translation:HumansCells
    825. Del Vecchio VG, Petroziello JM, Gress MJ, McCleskey FK, Melcher GP, Crouch HK, Lupski JR. Molecular genotyping of methicillin-resistant Staphylococcus aureus via fluorophore-enhanced repetitive-sequence PCR. J Clin Microbiol. 1995 Aug; 33(8):2141-4. PMID: 7559964; PMCID: PMC228351.
      Citations: 47     Fields:    Translation:HumansCells
    826. Go MF, Chan KY, Versalovic J, Koeuth T, Graham DY, Lupski JR. Cluster analysis of Helicobacter pylori genomic DNA fingerprints suggests gastroduodenal disease-specific associations. Scand J Gastroenterol. 1995 Jul; 30(7):640-6. PMID: 7481525.
      Citations: 19     Fields:    Translation:HumansCells
    827. Britton RA, Lupski JR. Functional analysis of mutations in the transcription terminator T1 that suppress two dnaG alleles in Escherichia coli. Mol Gen Genet. 1995 Mar 20; 246(6):729-33. PMID: 7898441.
      Citations: 2     Fields:    Translation:Cells
    828. Levin ML, Shaffer LG, Gresik MV, Lupski JR. Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies. Am J Med Genet. 1995 Jan 02; 55(1):30-2. PMID: 7702093.
      Citations: 9     Fields:    Translation:HumansCells
    829. Versalovic J, Kapur V, Koeuth T, Mazurek GH, Whittam TS, Musser JM, Lupski JR. DNA fingerprinting of pathogenic bacteria by fluorophore-enhanced repetitive sequence-based polymerase chain reaction. Arch Pathol Lab Med. 1995 Jan; 119(1):23-9. PMID: 7802548.
      Citations: 22     Fields:    Translation:Cells
    830. Georghiou PR, Hamill RJ, Wright CE, Versalovic J, Koeuth T, Watson DA, Lupski JR. Molecular epidemiology of infections due to Enterobacter aerogenes: identification of hospital outbreak-associated strains by molecular techniques. Clin Infect Dis. 1995 Jan; 20(1):84-94. PMID: 7727676.
      Citations: 31     Fields:    Translation:HumansCells
    831. Chen KS, Gunaratne PH, Hoheisel JD, Young IG, Miklos GL, Greenberg F, Shaffer LG, Campbell HD, Lupski JR. The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. Am J Hum Genet. 1995 Jan; 56(1):175-82. PMID: 7825574; PMCID: PMC1801336.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    832. Lorenzetti D, Pareyson D, Sghirlanzoni A, Roa BB, Abbas NE, Pandolfo M, Di Donato S, Lupski JR. A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet. 1995 Jan; 56(1):91-8. PMID: 7825607; PMCID: PMC1801301.
      Citations: 9     Fields:    Translation:HumansCells
    833. Metzger R, Brown DP, Grealish P, Staver MJ, Versalovic J, Lupski JR, Katz L. Characterization of the macromolecular synthesis (MMS) operon from Listeria monocytogenes. Gene. 1994 Dec 30; 151(1-2):161-6. PMID: 7828867.
      Citations: 5     Fields:    Translation:Cells
    834. Georghiou PR, Doggett AM, Kielhofner MA, Stout JE, Watson DA, Lupski JR, Hamill RJ. Molecular fingerprinting of Legionella species by repetitive element PCR. J Clin Microbiol. 1994 Dec; 32(12):2989-94. PMID: 7883887; PMCID: PMC264212.
      Citations: 27     Fields:    Translation:HumansCells
    835. Snipes GJ, Schoener-Scott R, Welcher AA, Pareek S, Lupski JR, Murphy RA, Shooter EM, Patel PI, Suter U. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem. 1994 Oct 14; 269(41):25795-808. PMID: 7929285.
      Citations: 45     Fields:    Translation:HumansAnimalsCells
    836. Chance PF, Lupski JR. Inherited neuropathies: Charcot-Marie-Tooth disease and related disorders. Baillieres Clin Neurol. 1994 Aug; 3(2):373-85. PMID: 7952853.
      Citations: 3     Fields:    Translation:Humans
    837. Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG. De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. Am J Med Genet. 1994 Aug 01; 52(1):44-50. PMID: 7977460.
      Citations: 9     Fields:    Translation:HumansCells
    838. Matise TC, Chakravarti A, Patel PI, Lupski JR, Nelis E, Timmerman V, Van Broeckhoven C, Weeks DE. Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet. 1994 Jun; 54(6):1110-21. PMID: 8198134; PMCID: PMC1918201.
      Citations: 9     Fields:    Translation:HumansCells
    839. Leppert M, Baird L, Anderson KL, Otterud B, Lupski JR, Lewis RA. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat Genet. 1994 May; 7(1):108-12. PMID: 8075632.
      Citations: 39     Fields:    Translation:HumansCells
    840. Patel PI, Lupski JR. Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet. 1994 Apr; 10(4):128-33. PMID: 7518101.
      Citations: 32     Fields:    Translation:HumansAnimalsCells
    841. Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet. 1994 Feb; 3(2):223-8. PMID: 8004087.
      Citations: 75     Fields:    Translation:HumansCells
    842. Roa BB, Lupski JR. Molecular genetics of Charcot-Marie-Tooth neuropathy. Adv Hum Genet. 1994; 22:117-52. PMID: 7762451.
      Citations: 4     Fields:    Translation:HumansCells
    843. Versalovic J, Lupski JR. The Haemophilus influenzae dnaG sequence and conserved bacterial primase motifs. Gene. 1993 Dec 22; 136(1-2):281-6. PMID: 8294018.
      Citations: 7     Fields:    Translation:Cells
    844. Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA. Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology. 1993 Dec; 43(12):2664-7. PMID: 8255473.
      Citations: 12     Fields:    Translation:Humans
    845. Lupski JR, Chance PF, Garcia CA. Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. JAMA. 1993 Nov 17; 270(19):2326-30. PMID: 8230595.
      Citations: 9     Fields:    Translation:HumansCells
    846. Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet. 1993 Nov; 5(3):269-73. PMID: 8275092.
      Citations: 48     Fields:    Translation:HumansCells
    847. Versalovic J, Woods CR, Georghiou PR, Hamill RJ, Lupski JR. DNA-based identification and epidemiologic typing of bacterial pathogens. Arch Pathol Lab Med. 1993 Nov; 117(11):1088-98. PMID: 8239928.
      Citations: 13     Fields:    Translation:HumansCells
    848. Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR. Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am J Hum Genet. 1993 Oct; 53(4):853-63. PMID: 8105684; PMCID: PMC1682385.
      Citations: 40     Fields:    Translation:HumansCells
    849. Levin ML, Lupski JR, Carpenter RJ, Gerson LP, Greenberg F. An additional case of pachygyria, joint contractures and facial abnormalities. Clin Dysmorphol. 1993 Oct; 2(4):365-8. PMID: 8305968.
      Citations: 3     Fields:    Translation:Humans
    850. Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet. 1993 Oct; 5(2):189-94. PMID: 8252046.
      Citations: 45     Fields:    Translation:HumansCells
    851. Lupski JR. Molecular epidemiology and its clinical application. JAMA. 1993 Sep 15; 270(11):1363-4. PMID: 8360972.
      Citations: 5     Fields:    Translation:HumansPHPublic Health
    852. Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, Driscoll DJ, Patel PI, Zackowski JL. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet. 1993 Sep 15; 47(4):504-11. PMID: 8256814.
      Citations: 15     Fields:    Translation:HumansCells
    853. Roa BB, Lupski JR. Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition. Am J Med Sci. 1993 Sep; 306(3):177-84. PMID: 8128981.
      Citations: 3     Fields:    Translation:HumansCells
    854. Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA. Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology. 1993 Sep; 43(9):1806-8. PMID: 8414036.
      Citations: 21     Fields:    Translation:HumansCells
    855. Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med. 1993 Jul 08; 329(2):96-101. PMID: 8510709.
      Citations: 65     Fields:    Translation:HumansCells
    856. Woods CR, Versalovic J, Koeuth T, Lupski JR. Whole-cell repetitive element sequence-based polymerase chain reaction allows rapid assessment of clonal relationships of bacterial isolates. J Clin Microbiol. 1993 Jul; 31(7):1927-31. PMID: 8349778; PMCID: PMC265663.
      Citations: 44     Fields:    Translation:HumansCells
    857. Versalovic J, Kapur V, Mason EO, Shah U, Koeuth T, Lupski JR, Musser JM. Penicillin-resistant Streptococcus pneumoniae strains recovered in Houston: identification and molecular characterization of multiple clones. J Infect Dis. 1993 Apr; 167(4):850-6. PMID: 8450250.
      Citations: 48     Fields:    Translation:HumansCells
    858. Versalovic J, Koeuth T, Britton R, Geszvain K, Lupski JR. Conservation and evolution of the rpsU-dnaG-rpoD macromolecular synthesis operon in bacteria. Mol Microbiol. 1993 Apr; 8(2):343-55. PMID: 8316085.
      Citations: 27     Fields:    Translation:Cells
    859. Roa BB, Garcia CA, Wise CA, Anderson K, Greenberg F, Patel PI, Lupski JR. Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. Prog Clin Biol Res. 1993; 384:187-205. PMID: 8115402.
      Citations: 1     Fields:    Translation:HumansAnimals
    860. Lupski JR, Pentao L, Williams LL, Patel PI. Stable inheritance of the CMT1A DNA duplication in two patients with CMT1 and NF1. Am J Med Genet. 1993 Jan 01; 45(1):92-6. PMID: 8418668.
      Citations: 7     Fields:    Translation:HumansCells
    861. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet. 1992 Dec; 2(4):292-300. PMID: 1303282.
      Citations: 92     Fields:    Translation:HumansCells
    862. Lupski JR. An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. Clin Res. 1992 Dec; 40(4):645-52. PMID: 1486731.
      Citations: 13     Fields:    Translation:Humans
    863. Woods CR, Versalovic J, Koeuth T, Lupski JR. Analysis of relationships among isolates of Citrobacter diversus by using DNA fingerprints generated by repetitive sequence-based primers in the polymerase chain reaction. J Clin Microbiol. 1992 Nov; 30(11):2921-9. PMID: 1452663; PMCID: PMC270553.
      Citations: 35     Fields:    Translation:HumansCellsPHPublic Health
    864. Lupski JR, Garcia CA. Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. Brain Pathol. 1992 Oct; 2(4):337-49. PMID: 1341967.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    865. Lupski JR, Weinstock GM. Short, interspersed repetitive DNA sequences in prokaryotic genomes. J Bacteriol. 1992 Jul; 174(14):4525-9. PMID: 1624445; PMCID: PMC206247.
      Citations: 90     Fields:    Translation:Cells
    866. Guzzetta V, Franco B, Trask BJ, Zhang H, Saucedo-Cardenas O, Montes de Oca-Luna R, Greenberg F, Chinault AC, Lupski JR, Patel PI. Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. Genomics. 1992 Jul; 13(3):551-9. PMID: 1639385.
      Citations: 10     Fields:    Translation:HumansCells
    867. Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun; 1(3):159-65. PMID: 1303228.
      Citations: 124     Fields:    Translation:HumansAnimalsCells
    868. Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet. 1992 Apr; 50(4):690-9. PMID: 1347967; PMCID: PMC1682625.
      Citations: 37     Fields:    Translation:HumansCells
    869. Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F, Patel PI. Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Apr; 1(1):29-33. PMID: 1301995.
      Citations: 63     Fields:    Translation:HumansCells
    870. Subramanian PS, Versalovic J, McCabe ER, Lupski JR. Rapid mapping of Escherichia coli::Tn5 insertion mutations by REP-Tn5 PCR. PCR Methods Appl. 1992 Feb; 1(3):187-92. PMID: 1335324.
      Citations: 4     Fields:    Translation:Cells
    871. Versalovic J, Koeuth T, Lupski JR. Distribution of repetitive DNA sequences in eubacteria and application to fingerprinting of bacterial genomes. Nucleic Acids Res. 1991 Dec 25; 19(24):6823-31. PMID: 1762913; PMCID: PMC329316.
      Citations: 853     Fields:    Translation:Cells
    872. Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991 Dec; 49(6):1207-18. PMID: 1746552; PMCID: PMC1686451.
      Citations: 95     Fields:    Translation:HumansCells
    873. Hoffman EP, Garcia CA, Chamberlain JS, Angelini C, Lupski JR, Fenwick R. Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy. Ann Neurol. 1991 Oct; 30(4):605-10. PMID: 1789686.
      Citations: 18     Fields:    Translation:Humans
    874. Versalovic J, Koeuth T, McCabe ER, Lupski JR. Use of the polymerase chain reaction for physical mapping of Escherichia coli genes. J Bacteriol. 1991 Sep; 173(17):5253-5. PMID: 1832149; PMCID: PMC208231.
      Citations: 5     Fields:    Translation:Cells
    875. Lupski JR, Garcia CA, Zoghbi HY, Hoffman EP, Fenwick RG. Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet. 1991 Sep 01; 40(3):354-64. PMID: 1683155.
      Citations: 23     Fields:    Translation:HumansCells
    876. Lupski JR, Langston C, Friedman R, Ledbetter DH, Greenberg F. Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2). Am J Med Genet. 1991 Aug 01; 40(2):196-8. PMID: 1897574.
      Citations: 3     Fields:    Translation:HumansCells
    877. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991 Jul 26; 66(2):219-32. PMID: 1677316.
      Citations: 357     Fields:    Translation:HumansAnimalsCells
    878. Franco B, Lai LW, Patterson D, Ledbetter DH, Trask BJ, van den Engh G, Iannaccone S, Frances S, Patel PI, Lupski JR. Molecular characterization of a patient with del(1)(q23-q25). Hum Genet. 1991 Jul; 87(3):269-77. PMID: 1677922.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    879. Grompe M, Versalovic J, Koeuth T, Lupski JR. Mutations in the Escherichia coli dnaG gene suggest coupling between DNA replication and chromosome partitioning. J Bacteriol. 1991 Feb; 173(3):1268-78. PMID: 1991720; PMCID: PMC207251.
      Citations: 18     Fields:    Translation:Cells
    880. Guzzetta V, Montes de Oca-Luna R, Lupski JR, Patel PI. Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction. Genomics. 1991 Jan; 9(1):31-6. PMID: 2004767.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    881. Roa BB, Garcia CA, Lupski JR. Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy. Int J Neurol. 1991-1992; 25-26:97-107. PMID: 11980069.
      Citations: 12     Fields:    Translation:Humans
    882. Franco B, Rincon-Limas D, Nakamura Y, Patel PI, Lupski JR. Two MspI RFLPs at the D17S258 locus. Nucleic Acids Res. 1990 Dec 11; 18(23):7196. PMID: 1702207; PMCID: PMC332843.
      Citations: 2     Fields:    Translation:HumansCells
    883. Patel PI, Garcia C, Montes de Oca-Luna R, Malamut RI, Franco B, Slaugenhaupt S, Chakravarti A, Lupski JR. Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am J Hum Genet. 1990 Dec; 47(6):926-34. PMID: 1978559; PMCID: PMC1683908.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    884. Nesin M, Svec P, Lupski JR, Godson GN, Kreiswirth B, Kornblum J, Projan SJ. Cloning and nucleotide sequence of a chromosomally encoded tetracycline resistance determinant, tetA(M), from a pathogenic, methicillin-resistant strain of Staphylococcus aureus. Antimicrob Agents Chemother. 1990 Nov; 34(11):2273-6. PMID: 2073121; PMCID: PMC172038.
      Citations: 27     Fields:    Translation:Cells
    885. Lupski JR, Zhang YH, Rieger M, Minter M, Hsu B, Ooi BG, Koeuth T, McCabe ER. Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reaction. J Bacteriol. 1990 Oct; 172(10):6129-34. PMID: 2170343; PMCID: PMC526940.
      Citations: 5     Fields:    Translation:Cells
    886. Ray R, Rincon-Limas D, Wright RA, Davis SN, Lupski JR, Patel PI. Three polymorphisms at the D17S29 locus. Nucleic Acids Res. 1990 Aug 25; 18(16):4958. PMID: 1975670; PMCID: PMC332022.
      Citations: 3     Fields:    Translation:HumansCells
    887. Patel PI, Franco B, Garcia C, Slaugenhaupt SA, Nakamura Y, Ledbetter DH, Chakravarti A, Lupski JR. Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet. 1990 Apr; 46(4):801-9. PMID: 2316525; PMCID: PMC1683666.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    888. Patel PI, Ledbetter DH, Frances S, Franco B, Wallace MR, Collins FS, Lupski JR. Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251]. Nucleic Acids Res. 1990 Feb 25; 18(4):1087. PMID: 1969146; PMCID: PMC330407.
      Citations:    Fields:    Translation:HumansCells
    889. Lupski JR, Godson GN. DNA----DNA, and DNA----RNA----protein: orchestration by a single complex operon. Bioessays. 1989 May; 10(5):152-7. PMID: 2472787.
      Citations: 5     Fields:    Translation:Cells
    890. Nesin M, Lupski JR, Godson GN. Role of the 5' upstream sequence and tandem promoters in regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon. J Bacteriol. 1988 Dec; 170(12):5759-64. PMID: 2848013; PMCID: PMC211679.
      Citations: 3     Fields:    Translation:Cells
    891. Lupski JR, Feigin RD. Molecular evolution of pathogenic Escherichia coli. J Infect Dis. 1988 Jun; 157(6):1120-3. PMID: 2897397.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    892. Lupski JR. Molecular mechanisms for transposition of drug-resistance genes and other movable genetic elements. Rev Infect Dis. 1987 Mar-Apr; 9(2):357-68. PMID: 3035697.
      Citations: 10     Fields:    Translation:Cells
    893. Lupski JR. Immunity to malaria and naturally acquired antibodies to the circumsporozoite protein of Plasmodium falciparum. N Engl J Med. 1987 Feb 12; 316(7):415. PMID: 3100954.
      Citations:    Fields:    Translation:Animals
    894. Nesin M, Lupski JR, Svec P, Godson GN. Possible new genes as revealed by molecular analysis of a 5-kb Escherichia coli chromosomal region 5' to the rpsU-dnaG-rpoD macromolecular-synthesis operon. Gene. 1987; 51(2-3):149-61. PMID: 3297921.
      Citations: 10     Fields:    Translation:Cells
    895. Brosius J, Lupski JR. Plasmids for the selection and analysis of prokaryotic promoters. Methods Enzymol. 1987; 153:54-68. PMID: 2828849.
      Citations: 12     Fields:    Translation:Cells
    896. Lupski JR, Projan SJ, Ozaki LS, Godson GN. A temperature-dependent pBR322 copy number mutant resulting from a Tn5 position effect. Proc Natl Acad Sci U S A. 1986 Oct; 83(19):7381-5. PMID: 2429304; PMCID: PMC386721.
      Citations: 11     Fields:    Translation:Cells
    897. Cudny H, Lupski JR, Godson GN, Deutscher MP. Cloning, sequencing, and species relatedness of the Escherichia coli cca gene encoding the enzyme tRNA nucleotidyltransferase. J Biol Chem. 1986 May 15; 261(14):6444-9. PMID: 3009457.
      Citations: 20     Fields:    Translation:Cells
    898. Peacock S, Lupski JR, Godson GN, Weissbach H. In vitro stimulation of Escherichia coli RNA polymerase sigma subunit synthesis by NusA protein. Gene. 1985; 33(2):227-34. PMID: 3888785.
      Citations: 4     Fields:    Translation:Cells
    899. Bukhari AI, Lupski JR, Svec P, Godson GN. Comparison of left-end DNA sequences of bacteriophages Mu and D108. Gene. 1985; 33(2):235-9. PMID: 3158574.
      Citations: 3     Fields:    Translation:Cells
    900. Lupski JR, Godson GN. The rpsU-dnaG-rpoD macromolecular synthesis operon of E. coli. Cell. 1984 Dec; 39(2 Pt 1):251-2. PMID: 6388849.
      Citations: 18     Fields:    Translation:Cells
    901. Godson GN, Ellis J, Lupski JR, Ozaki LS, Svec P. Structure and organization of genes for sporozoite surface antigens. Philos Trans R Soc Lond B Biol Sci. 1984 Nov 13; 307(1131):129-39. PMID: 6151677.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    902. Lupski JR, Gershon P, Ozaki LS, Godson GN. Specificity of Tn5 insertions into a 36-bp DNA sequence repeated in tandem seven times. Gene. 1984 Oct; 30(1-3):99-106. PMID: 6096228.
      Citations: 5     Fields:    Translation:AnimalsCells
    903. de Bruijn FJ, Lupski JR. The use of transposon Tn5 mutagenesis in the rapid generation of correlated physical and genetic maps of DNA segments cloned into multicopy plasmids--a review. Gene. 1984 Feb; 27(2):131-49. PMID: 6327463.
      Citations: 204     Fields:    Translation:Cells
    904. Lupski JR, Ruiz AA, Godson GN. Promotion, termination, and anti-termination in the rpsU-dnaG-rpoD macromolecular synthesis operon of E. coli K-12. Mol Gen Genet. 1984; 195(3):391-401. PMID: 6206376.
      Citations: 45     Fields:    Translation:Cells
    905. Lupski JR, Ozaki LS, Ellis J, Godson GN. Localization of a Plasmodium surface antigen epitope by Tn5 mutagenesis mapping of a recombinant cDNA clone. Science. 1983 Jun 17; 220(4603):1285-8. PMID: 6190227.
      Citations: 1     Fields:    Translation:AnimalsCells
    906. Lupski JR, Smiley BL, Godson GN. Regulation of the rpsU-dnaG-rpoD macromolecular synthesis operon and the initiation of DNA replication in Escherichia coli K-12. Mol Gen Genet. 1983; 189(1):48-57. PMID: 6222240.
      Citations: 34     Fields:    Translation:Cells
    907. Smiley BL, Lupski JR, Svec PS, McMacken R, Godson GN. Sequences of the Escherichia coli dnaG primase gene and regulation of its expression. Proc Natl Acad Sci U S A. 1982 Aug; 79(15):4550-4. PMID: 6750604; PMCID: PMC346712.
      Citations: 39     Fields:    Translation:Cells
    908. Lupski JR, Smiley BL, Blattner FR, Godson GN. Cloning and characterization of the Escherichia coli chromosomal region surrounding the dnaG Gene, with a correlated physical and genetic map of dnaG generated via transposon Tn5 mutagenesis. Mol Gen Genet. 1982; 185(1):120-8. PMID: 6283308.
      Citations: 19     Fields:    Translation:Cells
    909. Chaconas G, de Bruijn FJ, Casadaban MJ, Lupski JR, Kwoh TJ, Harshey RM, DuBow MS, Bukhari AI. In vitro and in vivo manipulations of bacteriophage Mu DNA: cloning of Mu ends and construction of mini-Mu's carrying selectable markers. Gene. 1981 Jan-Feb; 13(1):37-46. PMID: 6263754.
      Citations: 38     Fields:    Translation:Cells
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