Header Logo

SEEMA LALANI

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
vCardDownload vCard

    Collapse Bibliographic 
    Collapse selected publications
    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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    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. Parobek CM, Zemet R, Shanahan MA, Burnett BA, Mizerik E, Rosenfeld JA, Vossaert L, Clark SL, Hunter JV, Lalani SR. Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis. Clin Genet. 2024 Mar 28. PMID: 38545656.
      Citations:    Fields:    
    2. Gerard A, Mizerik E, Mohila CA, AlAwami S, Hunter JV, Kearney DL, Lalani SR, Scaglia F. Intracranial calcifications simulating Aicardi-Gouti?res syndrome in PARS2-related mitochondrial disease. Am J Med Genet A. 2024 Mar 12; e63589. PMID: 38469956.
      Citations:    Fields:    
    3. Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong J, Prat C, Mart?nez-Monseny AF, Palau F, Liu P, Adams D, Undiagnosed Diseases Network, Lalani S, Rosenfeld JA, Burrage LC. Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Hum Genet. 2024 Mar 07. PMID: 38451290.
      Citations:    Fields:    
    4. Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SC, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K, Texome Project, Owen N, Vossaert L, Liu P, Bellen H, Wangler M. Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 Feb 28; 101102. PMID: 38431799.
      Citations:    Fields:    
    5. Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF, Undiagnosed Diseases Network, Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ, Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF, Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ. De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects. medRxiv. 2024 Jan 09. PMID: 38260438; PMCID: PMC10802640.
      Citations:    
    6. Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation. Nat Commun. 2024 Jan 08; 15(1):365. PMID: 38191484; PMCID: PMC10774338.
      Citations:    Fields:    Translation:HumansAnimalsCells
    7. Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, Rodriguez K, Gamez JD, Mulukutla SN, Berry L, Hernandez A, Allegre A, Hidalgo H, Rodriguez S, Magallan S, Gibson J, Bernini JC, Watson M, Nelson R, Mellin-Sanchez L, Dai H, Soler-Alfonso C, Carter K, Lee B, Lalani SR, Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, Rodriguez K, Gamez JD, Mulukutla SN, Berry L, Hernandez A, Allegre A, Hidalgo H, Rodriguez S, Magallan S, Gibson J, Bernini JC, Watson M, Nelson R, Mellin-Sanchez L, Dai H, Soler-Alfonso C, Carter K, Lee B, Lalani SR. Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement. Res Sq. 2023 Dec 13. PMID: 38168160; PMCID: PMC10760238.
      Citations:    
    8. Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Ghayoor Karimiani E, Efthymiou S, Yesil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Sch?neborn S, Babaei M, Isohanni P, Muhammad J, Sheraz K, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Dilruba AA, Salpietro V, Yousaf H, Ben-Shachar S, Ejesk?r K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, 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.
      Citations:    Fields:    Translation:Humans
    9. Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, R?da M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR, Svihovec S, Brown K, Koopman-Keemink Y, Hoffer MJV, Lakeman IMM, Brischoux-Boucher E, Kinali M, Zhao X, Lalani SR, Scott DA. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. Am J Med Genet A. 2024 Mar; 194(3):e63445. PMID: 37872713.
      Citations:    Fields:    Translation:HumansCells
    10. Sumalde AAM, Yang IV, Yarza TKL, Tobias-Grasso CAM, Tantoco MLC, Davidson E, Chan AL, Azamian MS, Cruz TLG, Lalani SR, Reyes-Quintos MRT, Cutiongco-de la Paz EM, Santos-Cortez RLP, Chiong CM. Lack of Methylation Changes in GJB2 and RB1 Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss. Acta Med Philipp. 2023 Sep 28; 57(9):116-120. PMID: 37990697; PMCID: PMC10662870.
      Citations:    
    11. Landis BJ, Helvaty LR, Geddes GC, Lin JI, Yatsenko SA, Lo CW, Border WL, Wechsler SB, Murali CN, Azamian MS, Lalani SR, Hinton RB, Garg V, McBride KL, Hodge JC, Ware SM. A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease. J Am Heart Assoc. 2023 09 19; 12(18):e029340. PMID: 37681527; PMCID: PMC10547279.
      Citations: 1     Fields:    Translation:Humans
    12. Huth EA, Zhao X, Owen N, Luna PN, Vogel I, Dorf ILH, Joss S, Clayton-Smith J, Parker MJ, Louw JJ, Gewillig M, Breckpot J, Kraus A, Sasaki E, Kini U, Burgess T, Tan TY, Armstrong R, Neas K, Ferrero GB, Brusco A, Kerstjens-Frederikse WS, Rankin J, Helvaty LR, Landis BJ, Geddes GC, McBride KL, Ware SM, Shaw CA, Lalani SR, Rosenfeld JA, Scott DA. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return. Eur J Hum Genet. 2023 12; 31(12):1430-1439. PMID: 37673932; PMCID: PMC10689790.
      Citations: 2     Fields:    Translation:Animals
    13. 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
    14. Miyake CY, Ehsan SA, Zhang L, Mackenzie SJ, Azamian MS, Scott DA, Hernandez-Garcia A, Lalani SR. Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study. Am J Med Genet A. 2023 09; 191(9):2433-2439. PMID: 37421366; PMCID: PMC10612108.
      Citations:    Fields:    Translation:Humans
    15. Mortenson J, Osher J, Birjiniuk A, Martinez HR, Kramer RJ, Fatahian AN, Chan A, Sun B, Parker LE, Rosamilia MB, Potter KB, Moore K, Atkins SL, Rosenfeld JA, Jones E, Howard TS, Kim JJ, Scott DA, Lalani S, Rouzbehani OMT, Kaplan S, Hathaway MA, Cohen JL, Asaki SY, Boudina S, Landstrom AP. PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study. Circ Genom Precis Med. 2023 08; 16(4):390-400. PMID: 37395136; PMCID: PMC10528350.
      Citations: 2     Fields:    Translation:HumansAnimals
    16. Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Turvey SE, Lehman A. Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet. 2023 Nov; 60(11):1092-1104. PMID: 37316189.
      Citations: 1     Fields:    
    17. Desbois M, Undiagnosed Diseases Network, Towner S, Wilson WG, Zarate YA, Christensen EL, Opperman KJ, Zheng N, Grill B, AlAbdi L, Rusnac DV, Sulaiman RA, Rosenfeld JA, Lalani S, Murdock DR, Burrage LC, Billie Au PY, Wong L, Brunet T, Strobl-Wildemann G, Burton JE, Hoganson G, McWalter K, Begtrup A, Giles AC, Helaby R, Kania A, Alkuraya FS. Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. Brain. 2023 04 19; 146(4):1373-1387. PMID: 36200388; PMCID: PMC10319777.
      Citations: 3     Fields:    Translation:HumansAnimals
    18. Averdunk L, Moreno-Andr?s D, Kalb R, Hsieh TC, Seibt A, Schouwink M, Faqeih EA, Brunet T, Boor P, Neveling K, Hoischen A, Hildebrandt B, Graf E, Schaper J, Omer JA, Schindler D, Krawitz P, Mayatepek E, Wieczorek D, Antonin W, von Felbert V, Distelmaier F, Huetzen MA, McKee S, Lalani S, Lu L, Jin W, Demaret T, Fleischer N, Wang LL, Jachimowicz RD. Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence. Genet Med. 2023 Jul; 25(7):100836. PMID: 37013901.
      Citations: 1     Fields:    Translation:HumansCells
    19. Xu W, Graves A, Weisz-Hubshman M, Hegazy L, Magyar C, Liu Z, Nasiotis E, Samee MAH, Burris T, Lalani S, Zhang L. Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum. Hum Mol Genet. 2023 03 06; 32(6):959-970. PMID: 36229919; PMCID: PMC9990987.
      Citations:    Fields:    Translation:Humans
    20. Sandkuhler SE, Zhang L, Meisner JK, Ghaloul-Gonzalez L, Beach CM, Harris D, de Lonlay P, Lalani SR, Miyake CY, Mackenzie SJ. B-complex vitamins for patients with TANGO2-deficiency disorder. J Inherit Metab Dis. 2023 03; 46(2):161-162. PMID: 36550018; PMCID: PMC10204720.
      Citations: 1     Fields:    Translation:Humans
    21. Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR. Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. Genet Med. 2023 04; 25(4):100352. PMID: 36473599; PMCID: PMC10306319.
      Citations: 3     Fields:    Translation:Humans
    22. Kumar RD, Meng L, Liu P, Miyake CY, Worley KC, Bi W, Lalani SR. Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. Am J Med Genet A. 2022 Nov; 188(11):3184-3190. PMID: 36065636; PMCID: PMC9703357.
      Citations:    
    23. Keehan L, Haviland I, Gofin Y, Swanson LC, El Achkar CM, Schreiber J, VanNoy GE, O'Heir E, O'Donnell-Luria A, Lewis RA, Magoulas P, Tran A, Azamian MS, Chao HT, Pham L, Samaco RC, Elsea S, Thorpe E, Kesari A, Perry D, Lee B, Lalani SR, Rosenfeld JA, Olson HE, Burrage LC, Undiagnosed Diseases Network. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. Am J Med Genet A. 2022 12; 188(12):3516-3524. PMID: 35934918; PMCID: PMC9669137.
      Citations:    
    24. Murali CN, Lalani SR, Azamian MS, Miyake CY, Smith HS. Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias. Eur J Hum Genet. 2022 09; 30(9):1044-1050. PMID: 35691983; PMCID: PMC9436934.
      Citations:    Fields:    
    25. Manor J, Calame DG, Gijavanekar C, Tran A, Fatih JM, Lalani SR, Mizerik E, Parnes M, Mehta VP, Adesina AM, Lupski JR, Scaglia F, Elsea SH. Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 06 03; 145(5):e36-e40. PMID: 35231119.
      Citations:    Fields:    Translation:Humans
    26. Miyake CY, Lay EJ, Beach CM, Ceresnak SR, Delauz CM, Howard TS, Janson CM, Jardine K, Kannankeril PJ, Kava M, Kim JJ, Liberman L, Macicek SL, Pham TD, Robertson T, Valdes SO, Webster G, Stephens SB, Milewicz DM, Azamian M, Ehsan SA, Houck KM, Soler-Alfonso C, Glinton KE, Tosur M, Li N, Xu W, Lalani SR, Zhang L. Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises. Heart Rhythm. 2022 10; 19(10):1673-1681. PMID: 35568137; PMCID: PMC10642301.
      Citations:    Fields:    
    27. Kumar RD, Tosur M, Lalani SR, Mahoney DH, Bertuch AA. The germline p53 activation syndrome: A new patient further refines the clinical phenotype. Am J Med Genet A. 2022 07; 188(7):2204-2208. PMID: 35362179.
      Citations:    Fields:    Translation:HumansCells
    28. Fielder SM, Rosenfeld JA, Burrage LC, Emrick L, Lalani S, Attali R, Bembenek JN, Hoang H, Baldridge D, Silverman GA, Undiagnosed Diseases Network, Schedl T, Pak SC. Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay. Mol Genet Metab. 2022 05; 136(1):65-73. PMID: 35361529; PMCID: PMC10200280.
      Citations:    Fields:    Translation:HumansAnimals
    29. Accogli A, Lu S, Musante I, Scudieri P, Rosenfeld JA, Severino M, Baldassari S, Iacomino M, Riva A, Balagura G, Piccolo G, Minetti C, Roberto D, Xia F, Razak R, Lawrence E, Hussein M, Chang EY, Holick M, Aliberto E, De-Sarro R, Gambardella A, Network UD, Group SS, Emrick L, McCaffery PJA, Clagett-Dame M, Marcogliese PC, Bellen HJ, Lalani SR, Zara F, Striano P, Salpietro V, Cal? E. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development. Cerebellum. 2023 Apr; 22(2):206-222. PMID: 35218524; PMCID: PMC9985553.
      Citations:    Fields:    
    30. Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A. 2022 06; 188(6):1868-1874. PMID: 35194938.
      Citations:    Fields:    Translation:Humans
    31. Lay E, Azamian MS, Denfield SW, Dreyer W, Spinner JA, Kearney D, Zhang L, Worley KC, Bi W, Lalani SR. LMOD2-related dilated cardiomyopathy presenting in late infancy. Am J Med Genet A. 2022 06; 188(6):1858-1862. PMID: 35188328; PMCID: PMC9117498.
      Citations:    Fields:    Translation:HumansAnimalsCells
    32. Gofin Y, Wang T, Gillentine MA, Scott TM, Berry AM, Azamian MS, Genetti C, Agrawal PB, Picker J, Wojcik MH, Delgado MR, Lynch SA, Scherer SW, Howe JL, Bacino CA, DiTroia S, VanNoy GE, O'Donnell-Luria A, Lalani SR, Graf WD, Rosenfeld JA, Eichler EE, Earl RK, Scott DA. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470. PMID: 35094443; PMCID: PMC8960338.
      Citations:    Fields:    Translation:HumansAnimals
    33. 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
    34. Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S, Undiagnosed Diseases Network, DDD Study, Bi W. PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clin Genet. 2021 08; 100(2):227-233. PMID: 33963760.
      Citations: 1     Fields:    Translation:Humans
    35. Manor J, Dinu D, Azamian MS, Bi W, Darilek S, Lalani SR. A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature. Am J Med Genet A. 2021 10; 185(10):2903-2912. PMID: 34061437; PMCID: PMC9082733.
      Citations:    Fields:    Translation:HumansCells
    36. Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Haynes D, Hoganson G, Kaname T, Kosaki K, Kubota K, Lemons JM, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB, Baxov? A, Bendov? ?, Hanc?rov? M, Heide S, Keren B, Magri?a MA, Sedl?cek Z, Wiesener A, Zweier C. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. Genet Med. 2021 07; 23(7):1234-1245. PMID: 33824499.
      Citations: 2     Fields:    Translation:HumansAnimals
    37. Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N. OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation. Front Cell Dev Biol. 2021; 9:631428. PMID: 33748114; PMCID: PMC7965969.
      Citations:    
    38. Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, Rosenfeld JA, Scott DA. Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH. J Med Genet. 2022 03; 59(3):270-278. PMID: 33461977; PMCID: PMC8286264.
      Citations: 5     Fields:    Translation:HumansAnimals
    39. Walters ME, Lacassie Y, Azamian M, Franciskovich R, Zapata G, Hernandez PP, Liu P, Campbell IM, Bostwick BL, Lalani SR. Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1. Am J Med Genet A. 2021 03; 185(3):916-922. PMID: 33369125.
      Citations:    Fields:    Translation:Humans
    40. Manor J, Lalani SR. Corrigendum: Overgrowth Syndromes-Evaluation, Diagnosis, and Management. Front Pediatr. 2020; 8:624141. PMID: 33425822; PMCID: PMC7787193.
      Citations:    
    41. Manor J, Lalani SR. Overgrowth Syndromes-Evaluation, Diagnosis, and Management. Front Pediatr. 2020; 8:574857. PMID: 33194904; PMCID: PMC7661798.
      Citations: 9     
    42. Slater B, Glinton K, Dai H, Lay E, Karaviti L, Mizerik E, Murali CN, Lalani SR, Bacino CA, Rossetti LZ. Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report. Am J Med Genet A. 2020 11; 182(11):2751-2754. PMID: 32885560.
      Citations: 2     Fields:    Translation:Humans
    43. van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H, UCLA Clinical Genomics Center, Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, van de Laar I, Fliedner A, Kirchner P, Wiesener A, Ekici AB, Gregor A, Zweier C. Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing. Am J Hum Genet. 2020 09 03; 107(3):544-554. PMID: 32730804; PMCID: PMC7477272.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    44. Gudenkauf FJ, Azamian MS, Hunter JV, Nayak A, Lalani SR. A novel CACNA1A variant in a child with early stroke and intractable epilepsy. Mol Genet Genomic Med. 2020 10; 8(10):e1383. PMID: 32692472; PMCID: PMC7549575.
      Citations: 4     Fields:    Translation:Humans
    45. Dhillon GS, Ghanayem NS, Broda CR, Lalani SR, Mery CM, Shekerdemian LS, Staffa SJ, Morris SA. An Analysis of Hospital Mortality After Cardiac Operations in Children With Down Syndrome. Semin Thorac Cardiovasc Surg. 2020 Winter; 32(4):947-957. PMID: 32621963.
      Citations:    Fields:    Translation:Humans
    46. Gibson S, Azamian MS, Lalani SR, Yen KG, Sutton VR, Scott DA. Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. Am J Med Genet A. 2020 08; 182(8):1960-1966. PMID: 32449285.
      Citations: 3     Fields:    Translation:Humans
    47. 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.
      Citations: 5     Fields:    Translation:Humans
    48. Smith HS, Swint JM, Lalani SR, de Oliveira Otto MC, Yamal JM, Russell HV, Lee BH. Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions. Genet Med. 2020 08; 22(8):1303-1310. PMID: 32336750.
      Citations: 4     Fields:    Translation:Humans
    49. 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
    50. Scott TM, Guo H, Eichler EE, Rosenfeld JA, Pang K, Liu Z, Lalani S, Bi W, Yang Y, Bacino CA, Streff H, Lewis AM, Koenig MK, Thiffault I, Bellomo A, Everman DB, Jones JR, Stevenson RE, Bernier R, Gilissen C, Pfundt R, Hiatt SM, Cooper GM, Holder JL, Scott DA. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Hum Mutat. 2020 05; 41(5):921-925. PMID: 31999386; PMCID: PMC7262739.
      Citations: 6     Fields:    Translation:Humans
    51. Kennedy AD, Pappan KL, Donti T, Delgado MR, Shinawi M, Pearson TS, Lalani SR, Craigen WJ, Sutton VR, Evans AM, Sun Q, Emrick LT, Elsea SH. Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. Front Neurosci. 2019; 13:1344. PMID: 32082103; PMCID: PMC7001677.
      Citations:    
    52. Lalani SR. Other genomic disorders and congenital heart disease. Am J Med Genet C Semin Med Genet. 2020 03; 184(1):107-115. PMID: 31909881.
      Citations:    Fields:    Translation:Humans
    53. Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Naegely L, Kolmer A, Hanauer A, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Guerrot AM, Schluth-Bolard C, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S, Pichot A, Paul N, Tran Mau-Them F, Jean-Mar?ais N, Dimartino C, Joly-Helas G, Rio M, Mensah-Bonsu N, C?raline J. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2020 Jan 02; 106(1):137. PMID: 31879022; PMCID: PMC7042478.
      Citations: 1     Fields:    
    54. Tessadori F, Rehman AU, Giltay JC, Xia F, Streff H, Duran K, Bakkers J, Lalani SR, van Haaften G. A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder. Eur J Hum Genet. 2020 05; 28(5):674-678. PMID: 31804630; PMCID: PMC7171094.
      Citations: 4     Fields:    Translation:HumansAnimals
    55. Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission. Sci Adv. 2019 09; 5(9):eaax2166. PMID: 31579823; PMCID: PMC6760934.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    56. Carrasco D, Magoulas P, Scull JC, Jarrell JA, Lalani SR, Wangler MF. Digital necrosis in an infant with severe spinal muscular atrophy. Neurol Genet. 2019 Oct; 5(5):e361. PMID: 31742229; PMCID: PMC6807655.
      Citations: 1     
    57. Pillai NR, Shayota BJ, Ghosh R, Sun Q, Azamian MS, Lalani SR, Scott DA, Yubero D, Oyarz?bal A, Arjona C, Brandi N, Palau F, Artuch R, Garc?a-Cazorla A. Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. Am J Med Genet A. 2019 12; 179(12):2459-2468. PMID: 31520464.
      Citations: 4     Fields:    Translation:HumansAnimals
    58. Van Dijck A, Coluzzi E, Catanzaro G, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Petrucci S, De Luca A, Ferretti E, Matullo G, Sgura A, Walkiewicz M, Kooy RF, Flex E, Martinelli S, Ciolfi A, Cecchetti S, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Pedace L, Miele E, Carcarino E, ?unap K, Bertini E, Rota R, Dallapiccola B, Tartaglia M. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet. 2019 09 05; 105(3):493-508. PMID: 31447100; PMCID: PMC6731364.
      Citations: 20     Fields:    Translation:HumansCells
    59. 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
    60. 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
    61. Kennedy AD, Pappan KL, Donti T, Delgado MR, Shinawi M, Pearson TS, Lalani SR, Craigen WE, Sutton VR, Evans AM, Sun Q, Emrick LT, Elsea SH. 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. Front Neurosci. 2019; 13:394. PMID: 31133775; PMCID: PMC6517487.
      Citations: 9     
    62. Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, Magoulas P, Rosenfeld JA, Karaviti L, Sutton VR, Lalani SR, Scott DA. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 07; 179(7):1376-1382. PMID: 31069960; PMCID: PMC6557668.
      Citations: 18     Fields:    Translation:HumansCells
    63. Sun C, Song J, Jiang Y, Zhao C, Lu J, Li Y, Wang Y, Gao M, Xi J, Luo S, Li M, Donaldson K, Oprescu SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr; 5(2):e565. PMID: 31192300; PMCID: PMC6515944.
      Citations: 4     
    64. 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:    
    65. Truong BT, Yarza TKL, Bootpetch Roberts T, Roberts S, Xu J, Steritz MJ, Tobias-Grasso CAM, Azamian M, Lalani SR, Mohlke KL, Lee NR, Cutiongco-de la Paz EM, Reyes-Quintos MRT, Santos-Cortez RLP, Chiong CM. Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees. Clin Genet. 2019 05; 95(5):634-636. PMID: 30828794; PMCID: PMC6499369.
      Citations: 5     Fields:    Translation:Humans
    66. 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
    67. Morlon A, Meng L, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M, Deciphering Developmental Disorders Study, University of Washington Center for Mendelian Genomics, Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Guerrot AM, Schluth-Bolard C, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Sun Z, Ploski R, Bacino CA, Mefford HC, Bodamer O, Carapito R, Ivanova EL, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Mar?ais N, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Joly-Helas G, Rio M, Mensah-Bonsu N, C?raline J, Faivre L, Chelly J, Isidor B, Bahram S. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2019 02 07; 104(2):319-330. PMID: 30639322; PMCID: PMC6369415.
      Citations: 7     Fields:    Translation:HumansAnimals
    68. 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
    69. Emrick LT, Rosenfeld JA, Lalani SR, Jain M, Desai NK, Larson A, Kripps K, Vanderver A, Taft RJ, Bluske K, Perry D, Nagakura H, Immken LL, Burrage LC, Bacino CA, Belmont JW, Network UD, Lee B. Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. Genet Med. 2019 07; 21(7):1652-1656. PMID: 30568308; PMCID: PMC6586530.
      Citations: 1     Fields:    Translation:HumansCells
    70. Streff H, Bi W, Adesina AM, Miyake CY, Lalani SR, Col?n AG. Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. Eur J Med Genet. 2019 Nov; 62(11):103567. PMID: 30395933; PMCID: PMC7237049.
      Citations: 2     Fields:    Translation:Humans
    71. Lalani S, Choudhry AJ, Firth B, Bacal V, Walker M, Wen SW, Singh S, Amath A, Hodge M, Chen I. Endometriosis and adverse maternal, fetal and neonatal outcomes, a systematic review and meta-analysis. Hum Reprod. 2018 10 01; 33(10):1854-1865. PMID: 30239732; PMCID: PMC6145420.
      Citations: 23     Fields:    Translation:Humans
    72. Dailey-Schwartz AL, Tadros HJ, Azamian MS, Lalani SR, Morris SA, Allen HD, Kim JJ, Landstrom AP. Copy Number Variants of Undetermined Significance Are Not Associated with Worse Clinical Outcomes in Hypoplastic Left Heart Syndrome. J Pediatr. 2018 11; 202:206-211.e2. PMID: 30172441; PMCID: PMC6203622.
      Citations: 1     Fields:    Translation:Humans
    73. Smith HS, Swint JM, Lalani SR, Yamal JM, de Oliveira Otto MC, Castellanos S, Taylor A, Lee BH, Russell HV. Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature. Genet Med. 2019 01; 21(1):3-16. PMID: 29760485.
      Citations: 31     Fields:    Translation:Humans
    74. Stevens SJC, van der Schoot V, Leduc MS, Rinne T, Lalani SR, Weiss MM, van Hagen JM, Lachmeijer AMA, CAUSES Study, Stockler-Ipsiroglu SG, Lehman A, Brunner HG. De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. Hum Mutat. 2018 07; 39(7):1014-1023. PMID: 29688601.
      Citations: 7     Fields:    Translation:HumansAnimals
    75. Leduc E, Bernas G, Campeau PM, Lalani SR, Martin DM, Bielas S, Moccia A, Srivastava A, Silversides DW, Pilon N, B?langer C, B?rub?-Simard FA. Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. Proc Natl Acad Sci U S A. 2018 01 23; 115(4):E620-E629. PMID: 29311329; PMCID: PMC5789929.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    76. 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
    77. Palmer EE, Kumar R, Shaw M, Carroll R, Murray L, Leffler M, Dudding-Byth T, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Kivuva E, DDD Study, Scott RH, Rendon A, Newman W, Kerr B, Rosenfeld JA, Field M, Gecz J, Gordon CT, Hubert L, Rio M, Oufadem M, Filippini F, Bole-Feysot C, Nitschk? P, Garrigue A, de Saint Basile G, Munnich A, Besmond C, Amiel J. A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. Am J Hum Genet. 2017 Dec 07; 101(6):995-1005. PMID: 29198722; PMCID: PMC5812890.
      Citations: 11     Fields:    Translation:Humans
    78. Hamdan FF, Myers CT, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Srour M, Bourque G, Berkovic SF, Sadleir LG, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Minassian BA, Cossette P, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Mau-Them FT, Bruel AL, Verloes A, ?unap K, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Jacques S, Boucher RM, Riou E, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Campeau PM, Kibar Z, Lafreni?re RG, Girard SL, Rossignol E, Michaud JL. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 02; 101(5):664-685. PMID: 29100083; PMCID: PMC5673604.
      Citations: 110     Fields:    Translation:Humans
    79. 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
    80. 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
    81. 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:    
    82. 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
    83. Hanchard NA, Umana LA, D'Alessandro L, Azamian M, Poopola M, Morris SA, Fernbach S, Lalani SR, Towbin JA, Zender GA, Fitzgerald-Butt S, Garg V, Bowman J, Zapata G, Hernandez P, Arrington CB, Furthner D, Prakash SK, Bowles NE, McBride KL, Belmont JW. Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. Am J Med Genet A. 2017 Aug; 173(8):2176-2188. PMID: 28653806; PMCID: PMC5560080.
      Citations: 5     Fields:    Translation:Humans
    84. Burrage LC, Guillerman RP, Das S, Singh S, Schady DA, Morris SA, Walkiewicz M, Schecter MG, Heinle JS, Lotze TE, Lalani SR, Mallory GB. Lung Transplantation for FLNA-Associated Progressive Lung Disease. J Pediatr. 2017 07; 186:118-123.e6. PMID: 28457522; PMCID: PMC5534178.
      Citations: 8     Fields:    Translation:HumansCells
    85. Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, Henderson A, Lalani SR, Scott DA. Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. PLoS One. 2017; 12(4):e0175962. PMID: 28414775; PMCID: PMC5393878.
      Citations: 6     Fields:    Translation:HumansCells
    86. 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
    87. 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
    88. Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Grebe T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP. Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. J Autism Dev Disord. 2017 03; 47(3):563. PMID: 28168676.
      Citations: 1     Fields:    
    89. 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
    90. Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Grebe T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP. The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. J Autism Dev Disord. 2017 Mar; 47(3):549-562. PMID: 27853923; PMCID: PMC5443344.
      Citations: 19     Fields:    Translation:Humans
    91. Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Elblova L, Quintos JB, Segerlund E, Shinawi M, Stattin EL, Swartz J, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A, Funari MF, Heath KE, Jorge AA, Pruhov? ?, Sentchordi L, Angel AG, Cu?llar SD. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. J Clin Endocrinol Metab. 2017 Feb 01; 102(2):460-469. PMID: 27870580; PMCID: PMC5413162.
      Citations: 37     Fields:    Translation:Humans
    92. Cowan JR, Tariq M, Shaw C, Rao M, Belmont JW, Lalani SR, Smolarek TA, Ware SM. Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. Philos Trans R Soc Lond B Biol Sci. 2016 12 19; 371(1710). PMID: 27821535; PMCID: PMC5104505.
      Citations: 16     Fields:    Translation:Humans
    93. Besse A, Petersen AK, Hunter JV, Appadurai V, Lalani SR, Bonnen PE. Personalized medicine approach confirms a milder case of ABAT deficiency. Mol Brain. 2016 12 01; 9(1):93. PMID: 27903293; PMCID: PMC5131463.
      Citations: 12     Fields:    Translation:HumansCells
    94. 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
    95. 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
    96. Lalani SR. Current Genetic Testing Tools in Neonatal Medicine. Pediatr Neonatol. 2017 04; 58(2):111-121. PMID: 28277305.
      Citations: 4     Fields:    Translation:HumansPHPublic Health
    97. 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
    98. Starkovich M, Lalani SR, Mercer CL, Scott DA. Chromosome 5q33 deletions associated with congenital heart defects. Am J Med Genet A. 2016 12; 170(12):3338-3342. PMID: 27589475.
      Citations: 3     Fields:    Translation:HumansCells
    99. 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
    100. Tokita MJ, Braxton AA, Shao Y, Lewis AM, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Walkiewicz MA, Vincent M, K?ry S, Besnard T, Isidor B, Latypova X, B?zieau S, Schaaf CP. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727. PMID: 27545676; PMCID: PMC5011061.
      Citations: 19     Fields:    Translation:Humans
    101. Leduc MS, Niu Z, Bi W, Zhu W, Miloslavskaya I, Chiang T, Streff H, Seavitt JR, Murray SA, Eng C, Chan A, Yang Y, Lalani SR. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Am J Med Genet A. 2016 08; 170(8):2206-11. PMID: 27250922; PMCID: PMC5725961.
      Citations: 6     Fields:    Translation:Humans
    102. Azamian M, Lalani SR. Cytogenomic Aberrations in Congenital Cardiovascular Malformations. Mol Syndromol. 2016 May; 7(2):51-61. PMID: 27385961; PMCID: PMC4906429.
      Citations: 2     
    103. Fregeau B, Kim BJ, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH, Hern?ndez-Garc?a A, Bara?ano K, Bosch DGM. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet. 2016 May 05; 98(5):963-970. PMID: 27087320; PMCID: PMC4863473.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    104. 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
    105. 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
    106. 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
    107. Chen I, Shen M, Singh SS, Lalani S, Wen SW. The Association Between Surgically-Diagnosed Endometriosis and Adverse Pregnancy Outcomes. J Minim Invasive Gynecol. 2015 Nov-Dec; 22(6S):S72-S73. PMID: 27679323.
      Citations:    Fields:    
    108. Riley KN, Catalano LM, Bernat JA, Adams SD, Martin DM, Lalani SR, Patel A, Burnside RD, Innis JW, Rudd MK. Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes. Am J Med Genet A. 2015 Nov; 167A(11):2664-73. PMID: 26227573.
      Citations: 15     Fields:    Translation:HumansCells
    109. Harel T, Posey JE, Graham BH, Walkiewicz M, Yang Y, Lalani SR, Belmont JW. Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant. Am J Med Genet A. 2015 Nov; 167A(11):2742-7. PMID: 26198278; PMCID: PMC4639746.
      Citations: 7     Fields:    Translation:HumansCells
    110. Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, Ware SM, Shaw C, Cheung SW, Lalani SR. De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet J Rare Dis. 2015 Jun 14; 10:75. PMID: 26070612; PMCID: PMC4472615.
      Citations: 3     Fields:    Translation:HumansCells
    111. Hinton RB, McBride KL, Bleyl SB, Bowles NE, Border WL, Garg V, Smolarek TA, Lalani SR, Ware SM. Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach. J Cardiovasc Dev Dis. 2015 Apr 29; 2(2):76-92. PMID: 29371513; PMCID: PMC5753096.
      Citations: 4     
    112. Jordan VK, Rosenfeld JA, Lalani SR, Scott DA. Duplication of HEY2 in cardiac and neurologic development. Am J Med Genet A. 2015 Sep; 167A(9):2145-9. PMID: 25832314; PMCID: PMC4545384.
      Citations: 4     Fields:    Translation:HumansAnimals
    113. Sarkar A, Emrick LT, Smith EM, Austin EG, Yang Y, Hunter JV, Scaglia F, Lalani SR. Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. Am J Med Genet A. 2015 Apr; 167A(4):914-8. PMID: 25735261.
      Citations: 8     Fields:    Translation:Humans
    114. Besse A, Wu P, Donti T, Graham BH, Craigen WJ, Moretti P, Lalani S, Scott KL, Bonnen PE, Bruni F, McFarland R, Taylor RW. The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab. 2015 Mar 03; 21(3):417-27. PMID: 25738457; PMCID: PMC4757431.
      Citations: 60     Fields:    Translation:HumansCells
    115. Parrott A, James J, Goldenberg P, Hinton RB, Miller E, Shikany A, Aylsworth AS, Kaiser-Rogers K, Ferns SJ, Lalani SR, Ware SM. Aortopathy in the 7q11.23 microduplication syndrome. Am J Med Genet A. 2015 Feb; 167A(2):363-70. PMID: 25428557.
      Citations: 11     Fields:    Translation:HumansCells
    116. 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
    117. 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
    118. Chanprasert S, Smith JL, Hixson P, Patel A, Lalani SR. Heterozygous deletion of exons 18 and 19 of IGF1R in an individual with short stature. Clin Dysmorphol. 2014 Jul; 23(3):98-100. PMID: 24595282.
      Citations: 1     Fields:    Translation:Humans
    119. Szafranski P, Von Allmen GK, Graham BH, Wilfong AA, Kang SH, Ferreira JA, Upton SJ, Moeschler JB, Bi W, Rosenfeld JA, Shaffer LG, Wai Cheung S, Stankiewicz P, Lalani SR. 6q22.1 microdeletion and susceptibility to pediatric epilepsy. Eur J Hum Genet. 2015 Feb; 23(2):173-9. PMID: 24824130; PMCID: PMC4297903.
      Citations: 13     Fields:    Translation:HumansCells
    120. Lalani SR, Belmont JW. Genetic basis of congenital cardiovascular malformations. Eur J Med Genet. 2014 Aug; 57(8):402-13. PMID: 24793338; PMCID: PMC4152939.
      Citations: 33     Fields:    Translation:HumansAnimals
    121. Ananth AL, Yang Y, Lalani SR, Lotze TB. An unusual cause of peroneal neuropathy. Semin Pediatr Neurol. 2014 Jun; 21(2):77-81. PMID: 25149929.
      Citations: 2     Fields:    Translation:Humans
    122. Zaveri HP, Beck TF, Shelly KE, Montgomery T, van Haeringen A, Anderlid BM, Patel C, Goel H, Houge G, Morrow BE, Cheung SW, Lalani SR, Scott DA, Hern?ndez-Garc?a A. Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36. PLoS One. 2014; 9(1):e85600. PMID: 24454898; PMCID: PMC3893250.
      Citations: 22     Fields:    Translation:HumansCells
    123. 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
    124. 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
    125. 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
    126. Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Craig Chinault A, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L, Belmont JW, Uma?a L. MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Hum Mol Genet. 2013 Nov 01; 22(21):4339-48. PMID: 23773997; PMCID: PMC3792692.
      Citations: 17     Fields:    Translation:HumansAnimals
    127. 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
    128. 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
    129. 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
    130. 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
    131. 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
    132. Firoz T, Magee LA, Lalani S, Sawchuck D, Payne B, Vidler M, Gordon R, von Dadelszen P, CLIP (Community Level Interventions for Pre-eclampsia) Working Group. PP088. Oral antihypertensive therapy for severe hypertension in pregnancy. Pregnancy Hypertens. 2012 Jul; 2(3):288. PMID: 26105410.
      Citations:    
    133. Brosens E, Zaveri HP, de Jong EM, Yu Z, Namwanje M, Mayle A, Fernandes CJ, Lee B, Blazo M, Lalani SR, Tibboel D, de Klein A, Scott DA, Hern?ndez-Garc?a A. Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. Am J Med Genet A. 2012 Jul; 158A(7):1785-7. PMID: 22639458.
      Citations: 7     Fields:    Translation:Humans
    134. Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM. SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. 2011 Sep 21; 12(9):R91. PMID: 21936905; PMCID: PMC3308054.
      Citations: 25     Fields:    Translation:HumansCells
    135. Nagamani SC, Erez A, Bay C, Pettigrew A, Lalani SR, Herman K, Graham BH, Nowaczyk MJ, Proud M, Craigen WJ, Hopkins B, Kozel B, Plunkett K, Hixson P, Stankiewicz P, Patel A, Cheung SW. Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. Eur J Hum Genet. 2012 Feb; 20(2):176-9. PMID: 21934713; PMCID: PMC3260920.
      Citations: 16     Fields:    Translation:HumansCells
    136. 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
    137. Campbell IM, Kolodziejska KE, Quach MM, Wolf VL, Cheung SW, Lalani SR, Ramocki MB, Stankiewicz P. TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. Am J Med Genet A. 2011 Jun; 155A(6):1442-7. PMID: 21567932; PMCID: PMC3646644.
      Citations: 7     Fields:    Translation:Humans
    138. Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW. Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6. PMID: 21150890; PMCID: PMC3061988.
      Citations: 39     Fields:    Translation:HumansCells
    139. 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
    140. Sanchez-Valle A, Wang X, Potocki L, Xia Z, Kang SH, Carlin ME, Michel D, Williams P, Cabrera-Meza G, Brundage EK, Eifert AL, Stankiewicz P, Cheung SW, Lalani SR. HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. Am J Med Genet A. 2010 Nov; 152A(11):2854-60. PMID: 20979191; PMCID: PMC3605882.
      Citations: 12     Fields:    Translation:HumansCells
    141. Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010 Jul; 31(7):840-50. PMID: 20506139; PMCID: PMC3162316.
      Citations: 67     Fields:    Translation:HumansCells
    142. Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. Eur J Hum Genet. 2010 Oct; 18(10):1133-40. PMID: 20461111; PMCID: PMC2987453.
      Citations: 7     Fields:    Translation:HumansCells
    143. Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T. 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH. Am J Med Genet A. 2010 Mar; 152A(3):573-81. PMID: 20186804; PMCID: PMC3119894.
      Citations: 57     Fields:    Translation:HumansCells
    144. Nagamani SC, Erez A, Shen J, Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, Lalani SR, Stankiewicz P, Sutton VR, Cheung SW. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010 Mar; 18(3):278-84. PMID: 19844256; PMCID: PMC2987224.
      Citations: 38     Fields:    Translation:HumansCells
    145. Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet. 2009 Oct 01; 18(19):3579-93. PMID: 19578123.
      Citations: 81     Fields:    Translation:HumansCells
    146. Erez A, Patel AJ, Wang X, Xia Z, Bhatt SS, Craigen W, Cheung SW, Lewis RA, Fang P, Davenport SL, Stankiewicz P, Lalani SR. Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics. 2009 Oct; 10(4):363-9. PMID: 19471977.
      Citations: 13     Fields:    Translation:HumansCells
    147. Lawrence E, Pope J, Al Zahraly Z, Lalani S, Baron M. The relationship between changes in self-reported disability (measured by the Health Assessment Questionnaire - HAQ) in scleroderma and improvement of disease status in clinical practice. Clin Exp Rheumatol. 2009 May-Jun; 27(3 Suppl 54):32-7. PMID: 19796559.
      Citations: 3     Fields:    Translation:Humans
    148. Layman WS, McEwen DP, Beyer LA, Lalani SR, Fernbach SD, Oh E, Swaroop A, Hegg CC, Raphael Y, Martens JR, Martin DM. Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Hum Mol Genet. 2009 Jun 01; 18(11):1909-23. PMID: 19279158; PMCID: PMC2678924.
      Citations: 60     Fields:    Translation:HumansAnimalsCells
    149. Ben-Shachar S, Bidwa BM, Potocki L, Lalani SR. Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies. Am J Med Genet A. 2009 Mar; 149A(3):515-8. PMID: 19215052.
      Citations: 1     Fields:    Translation:HumansCells
    150. 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
    151. 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
    152. 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
    153. 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
    154. 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
    155. 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
    156. Brunetti-Pierri N, Grange DK, Ou Z, Peiffer DA, Peacock SK, Cooper ML, Eng PA, Lalani SR, Chinault AC, Gunderson KL, Craigen WJ, Cheung SW. Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization. Clin Genet. 2007 Nov; 72(5):411-9. PMID: 17916097.
      Citations: 5     Fields:    Translation:HumansCells
    157. Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct; 72(4):329-38. PMID: 17850629.
      Citations: 16     Fields:    Translation:HumansCells
    158. Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa BB, Beaudet AL, Eng CM. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med. 2006 Nov; 8(11):719-27. PMID: 17108764.
      Citations: 36     Fields:    Translation:HumansCells
    159. Lalani SR, Sahoo T, Sanders ME, Peters SU, Bejjani BA. Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2). BMC Med Genet. 2006 Feb 10; 7:8. PMID: 16472378; PMCID: PMC1397801.
      Citations: 4     Fields:    Translation:HumansCells
    160. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14. PMID: 16400610; PMCID: PMC1380237.
      Citations: 117     Fields:    Translation:HumansAnimalsCells
    161. Lalani SR, Safiullah AM, Fernbach SD, Phillips M, Bacino CA, Molinari LM, Glass NL, Towbin JA, Craigen WJ, Belmont JW. SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8. PMID: 15710038; PMCID: PMC550653.
      Citations: 2     Fields:    Translation:Humans
    162. Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F. Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch Neurol. 2005 Feb; 62(2):317-20. PMID: 15710863.
      Citations: 44     Fields:    Translation:HumansCells
    163. Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW. SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet. 2004 Jul; 41(7):e94. PMID: 15235037; PMCID: PMC1735828.
      Citations: 54     Fields:    Translation:HumansCells
    164. Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW. Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. Am J Med Genet A. 2003 Apr 30; 118A(3):260-6. PMID: 12673657.
      Citations: 6     Fields:    Translation:HumansCells
    165. Sutton VR, Coveler KJ, Lalani SR, Kashork CD, Shaffer LG. Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms. Am J Med Genet. 2002 Sep 15; 112(1):23-7. PMID: 12239715.
      Citations: 4     Fields:    Translation:HumansCells
    166. Kim HF, Kunik ME, Molinari VA, Hillman SL, Lalani S, Orengo CA, Petersen NJ, Nahas Z, Goodnight-White S. Functional impairment in COPD patients: the impact of anxiety and depression. Psychosomatics. 2000 Nov-Dec; 41(6):465-71. PMID: 11110109.
      Citations: 70     Fields:    Translation:Humans
    167. Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE. A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. Am J Hum Genet. 1999 Dec; 65(6):1608-16. PMID: 10577914; PMCID: PMC1288371.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    168. Lachenmayr BJ, Drance SM, Chauhan BC, House PH, Lalani S. Diffuse and localized glaucomatous field loss in light-sense, flicker and resolution perimetry. Graefes Arch Clin Exp Ophthalmol. 1991; 229(3):267-73. PMID: 1869065.
      Citations: 9     Fields:    Translation:Humans
    169. Lachenmayr BJ, Drance SM, Chauhan BC, House PH, Lalani S. [Diffuse and localized glaucomatous visual field changes in light sense, flicker and visual acuity perimetry. Evidence of pressure damage]. Fortschr Ophthalmol. 1991; 88(5):530-7. PMID: 1757044.
      Citations:    Fields:    Translation:Humans
    LALANI's Networks
    Click the
    Explore
    buttons for more information and interactive visualizations!
    Concepts (578)
    Explore
    _
    Co-Authors (166)
    Explore
    _
    Similar People (60)
    Explore
    _
    Same Department Expand Description
    Explore
    _
    Physical Neighbors
    _