InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
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    R01HL128234     (EDELSTEIN, LEONARD C)Aug 1, 2015 - May 31, 2019
    An integrative approach to functionalize GWAS hits in MI and stroke
    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. Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. The impact of clinical genome sequencing in a global population with suspected rare genetic disease. Am J Hum Genet. 2024 Jul 11; 111(7):1271-1281. PMID: 38843839.
      Citations:    Fields:    Translation:Humans
    2. Bradley CC, Wang C, Gordon AJE, Wen AX, Luna PN, Cooke MB, Kohrn BF, Kennedy SR, Avadhanula V, Piedra PA, Lichtarge O, Shaw CA, Ronca SE, Herman C. Targeted accurate RNA consensus sequencing (tARC-seq) reveals mechanisms of replication error affecting SARS-CoV-2 divergence. Nat Microbiol. 2024 May; 9(5):1382-1392. PMID: 38649410.
      Citations: 1     Fields:    Translation:HumansCells
    3. Kunisetty B, Martin-Giacalone BA, Zhao X, Luna PN, Brooks BP, Hufnagel RB, Shaw CA, Rosenfeld JA, Agopian AJ, Lupo PJ, Scott DA. High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma. Invest Ophthalmol Vis Sci. 2024 Mar 05; 65(3):25. PMID: 38502138; PMCID: PMC10959191.
      Citations:    Fields:    Translation:HumansAnimals
    4. 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
    5. Kain BN, Tran BT, Luna PN, Cao R, Le DT, Florez MA, Maneix L, Toups JD, Morales-Mantilla DE, Koh S, Han H, Jaksik R, Huang Y, Catic A, Shaw CA, King KY. Hematopoietic stem and progenitor cells confer cross-protective trained immunity in mouse models. iScience. 2023 Sep 15; 26(9):107596. PMID: 37664586; PMCID: PMC10470378.
      Citations: 2     
    6. Chiang IK, Humphrey D, Mills RJ, Kaltzis P, Pachauri S, Graus M, Saha D, Wu Z, Young P, Sim CB, Davidson T, Hernandez-Garcia A, Shaw CA, Renwick A, Scott DA, Porrello ER, Wong ES, Hudson JE, Red-Horse K, Del Monte-Nieto G, Francois M. Sox7-positive endothelial progenitors establish coronary arteries and govern ventricular compaction. EMBO Rep. 2023 10 09; 24(10):e55043. PMID: 37551717; PMCID: PMC10561369.
      Citations: 1     Fields:    Translation:AnimalsCells
    7. Kumar RD, Saba LF, Streff H, Shaw CA, Mizerik E, Snyder MT, Lopez-Terrada D, Scull J. Clinical genome sequencing: Three years' experience at a tertiary children's hospital. Genet Med. 2023 10; 25(10):100916. PMID: 37334785.
      Citations:    Fields:    Translation:Humans
    8. Pendleton KE, Hernandez-Garcia A, Lyu JM, Campbell IM, Shaw CA, Vogt J, High FA, Donahoe PK, Chung WK, Scott DA. FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia. J Pediatr Genet. 2024 Mar; 13(1):29-34. PMID: 38567173; PMCID: PMC10984716.
    9. Belanger Deloge R, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations. Eur J Hum Genet. 2023 03; 31(3):296-303. PMID: 36474027; PMCID: PMC9995493.
      Citations:    Fields:    Translation:Humans
    10. 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.
      Citations: 1     Fields:    Translation:HumansCells
    11. Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, T?rring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. Am J Med Genet A. 2022 12; 188(12):3492-3504. PMID: 36135330; PMCID: PMC9669235.
    12. Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Rustad CF, Neas K, Ferrero GB, Brusco A, Wellesley D, Van Den Bogaert K, Boogaerts A, McMullan DJ, Dean J, Giuffrida MG, Bernardini L, Varghese V, Shannon NL, Harrison RE, Lam WWK, McKee S, Turnpenny PD, Cole T, Morton J, Eason J, Jones MC, Hall R, Wright M, Horridge K, Shaw CA, Chung WK, Scott DA, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Di Gregorio E, Beneteau C, Joubert M. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. Am J Med Genet A. 2022 10; 188(10):2958-2968. PMID: 35904974; PMCID: PMC9474674.
      Citations:    Fields:    
    13. Hill EJ, Robak LA, Al-Ouran R, Deger J, Fong JC, Vandeventer PJ, Schulman E, Rao S, Saade H, Savitt JM, von Coelln R, Desai N, Doddapaneni H, Salvi S, Dugan-Perez S, Muzny DM, McGuire AL, Liu Z, Gibbs RA, Shaw C, Jankovic J, Shulman LM, Shulman JM. Genome Sequencing in the Parkinson Disease Clinic. Neurol Genet. 2022 Aug; 8(4):e200002. PMID: 35747619; PMCID: PMC9210549.
    14. Kumar RD, Burns BA, Vandeventer PJ, Luna PN, Shaw CA. Selection for or against escape from nonsense mediated decay is a novel signature for the detection of cancer genes. Cancer Genet. 2021 11; 258-259:80-84. PMID: 34592632.
      Citations:    Fields:    Translation:HumansCells
    15. 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
    16. Luna PN, Mansbach JM, Shaw CA. A joint modeling approach for longitudinal microbiome data improves ability to detect microbiome associations with disease. PLoS Comput Biol. 2020 12; 16(12):e1008473. PMID: 33315858; PMCID: PMC7769610.
      Citations: 1     Fields:    Translation:HumansCells
    17. 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.
      Citations: 4     
    18. Ghazi AR, Kong X, Chen ES, Edelstein LC, Shaw CA. Bayesian modelling of high-throughput sequencing assays with malacoda. PLoS Comput Biol. 2020 07; 16(7):e1007504. PMID: 32692749; PMCID: PMC7394446.
      Citations: 1     Fields:    Translation:Humans
    19. 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
    20. 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
    21. Vossaert L, Wang Q, Salman R, McCombs AK, Patel V, Qu C, Mancini MA, Edwards DP, Malovannaya A, Liu P, Shaw CA, Levy B, Wapner RJ, Bi W, Breman AM, Van den Veyver IB, Beaudet AL. Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis. Am J Hum Genet. 2019 12 05; 105(6):1262-1273. PMID: 31785788; PMCID: PMC6904821.
      Citations: 17     Fields:    Translation:HumansCells
    22. Mansbach JM, Luna PN, Shaw CA, Hasegawa K, Petrosino JF, Piedra PA, Sullivan AF, Espinola JA, Stewart CJ, Camargo CA. Increased Moraxella and Streptococcus species abundance after severe bronchiolitis is associated with recurrent wheezing. J Allergy Clin Immunol. 2020 02; 145(2):518-527.e8. PMID: 31738994; PMCID: PMC7010548.
      Citations: 23     Fields:    Translation:HumansCells
    23. Sethunath V, Hu H, De Angelis C, Veeraraghavan J, Qin L, Wang N, Wang T, Fu X, Nardone A, Pereira R, Nanda S, Griffith OL, Tsimelzon A, Shaw C, Chamness GC, Reis-Filho JS, Weigelt B, Heiser LM, Hilsenbeck SG, Huang S, Rimawi MF, Gray JW, Osborne CK, Schiff R, Simon LM. Targeting the Mevalonate Pathway to Overcome Acquired Anti-HER2 Treatment Resistance in Breast Cancer. Mol Cancer Res. 2019 11; 17(11):2318-2330. PMID: 31420371; PMCID: PMC6825570.
      Citations: 19     Fields:    Translation:HumansCells
    24. Cao Y, Tokita MJ, Chen ES, Ghosh R, Chen T, Feng Y, Gorman E, Gibellini F, Ward PA, Braxton A, Wang X, Meng L, Xiao R, Bi W, Xia F, Eng CM, Yang Y, Gambin T, Shaw C, Liu P, Stankiewicz P. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome Med. 2019 07 26; 11(1):48. PMID: 31349857; PMCID: PMC6660700.
      Citations: 20     Fields:    Translation:Humans
    25. Madan N, Ghazi AR, Kong X, Chen ES, Shaw CA, Edelstein LC. Functionalization of CD36 cardiovascular disease and expression associated variants by interdisciplinary high throughput analysis. PLoS Genet. 2019 07; 15(7):e1008287. PMID: 31344026; PMCID: PMC6684090.
      Citations: 5     Fields:    Translation:HumansCells
    26. 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
    27. 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
    28. 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
    29. Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 Apr; 25(4):701-702. PMID: 30787481.
      Citations: 3     Fields:    
    30. 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
    31. Kong X, Ma L, Chen E, Shaw CA, Edelstein LC. Identification of the Regulatory Elements and Target Genes of Megakaryopoietic Transcription Factor MEF2C. Thromb Haemost. 2019 May; 119(5):716-725. PMID: 30731491; PMCID: PMC6932631.
      Citations: 1     Fields:    Translation:HumansCells
    32. Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447. PMID: 30692697.
      Citations: 52     Fields:    Translation:Humans
    33. Vossaert L, Wang Q, Salman R, Zhuo X, Qu C, Henke D, Seubert R, Chow J, U'ren L, Enright B, Stilwell J, Kaldjian E, Yang Y, Shaw C, Levy B, Wapner R, Breman A, Van den Veyver I, Beaudet A. Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing. Prenat Diagn. 2018 12; 38(13):1069-1078. PMID: 30357877; PMCID: PMC6587831.
      Citations: 21     Fields:    Translation:HumansCells
    34. Neelakantan D, Zhou H, Oliphant MUJ, Zhang X, Henke DM, Shaw CA, Wu MF, Hilsenbeck SG, White LD, Lewis MT, Ford HL, Simon LM. Publisher Correction: EMT cells increase breast cancer metastasis via paracrine GLI activation in neighbouring tumour cells. Nat Commun. 2018 11 12; 9(1):4720. PMID: 30420638; PMCID: PMC6232083.
      Citations: 3     Fields:    
    35. 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
    36. Ghazi AR, Chen ES, Henke DM, Madan N, Edelstein LC, Shaw CA. Design tools for MPRA experiments. Bioinformatics. 2018 08 01; 34(15):2682-2683. PMID: 30052913; PMCID: PMC6454564.
      Citations: 3     Fields:    
    37. Tricoci P, Neely M, Whitley MJ, Edelstein LC, Simon LM, Shaw C, Fortina P, Moliterno DJ, Armstrong PW, Aylward P, White H, Van de Werf F, Jennings LK, Wallentin L, Held C, Harrington RA, Mahaffey KW, Bray PF. Effects of genetic variation in protease activated receptor 4 after an acute coronary syndrome: Analysis from the TRACER trial. Blood Cells Mol Dis. 2018 09; 72:37-43. PMID: 30055940; PMCID: PMC6097632.
      Citations: 5     Fields:    Translation:Humans
    38. 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
    39. 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
    40. 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     
    41. Nair A, Chung HC, Sun T, Tyagi S, Dobrolecki LE, Dominguez-Vidana R, Kurley SJ, Orellana M, Renwick A, Henke DM, Katsonis P, Schmitt E, Chan DW, Li H, Mao S, Petrovic I, Creighton CJ, Gutierrez C, Dubrulle J, Stossi F, Tyner JW, Lichtarge O, Lin CY, Zhang B, Scott KL, Hilsenbeck SG, Sun J, Yu X, Osborne CK, Schiff R, Christensen JG, Shields DJ, Rimawi MF, Ellis MJ, Shaw CA, Lewis MT, Westbrook TF. Combinatorial inhibition of PTPN12-regulated receptors leads to a broadly effective therapeutic strategy in triple-negative breast cancer. Nat Med. 2018 05; 24(4):505-511. PMID: 29578538; PMCID: PMC6675908.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    42. Luna PN, Hasegawa K, Ajami NJ, Espinola JA, Henke DM, Petrosino JF, Piedra PA, Sullivan AF, Camargo CA, Shaw CA, Mansbach JM. The association between anterior nares and nasopharyngeal microbiota in infants hospitalized for bronchiolitis. Microbiome. 2018 01 03; 6(1):2. PMID: 29298732; PMCID: PMC5751828.
      Citations: 27     Fields:    Translation:HumansCells
    43. 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
    44. Akamine S, Sagata N, Sakai Y, Kato TA, Nakahara T, Matsushita Y, Togao O, Hiwatashi A, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T, Sawa A, Kano S, Furue M, Kanba S, Shaw CA, Ohga S. Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2. Epilepsia Open. 2018 03; 3(1):81-85. PMID: 29588991; PMCID: PMC5839317.
      Citations: 2     Fields:    
    45. Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Kagami M, Hara T, Ohga S. Sustained endocrine profiles of a girl with WAGR syndrome. BMC Med Genet. 2017 10 23; 18(1):117. PMID: 29061165; PMCID: PMC5654094.
      Citations: 3     Fields:    Translation:HumansCells
    46. 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
    47. Hause AM, Henke DM, Avadhanula V, Shaw CA, Tapia LI, Piedra PA. Correction: Sequence variability of the respiratory syncytial virus (RSV) fusion gene among contemporary and historical genotypes of RSV/A and RSV/B. PLoS One. 2017; 12(6):e0180623. PMID: 28658276; PMCID: PMC5489218.
      Citations:    Fields:    
    48. Neelakantan D, Zhou H, Oliphant MUJ, Zhang X, Henke DM, Shaw CA, Wu MF, Hilsenbeck SG, White LD, Lewis MT, Ford HL, Simon LM. EMT cells increase breast cancer metastasis via paracrine GLI activation in neighbouring tumour cells. Nat Commun. 2017 06 12; 8:15773. PMID: 28604738; PMCID: PMC5472791.
      Citations: 71     Fields:    Translation:HumansAnimalsCells
    49. Xu X, De Angelis C, Burke KA, Nardone A, Hu H, Qin L, Veeraraghavan J, Sethunath V, Heiser LM, Wang N, Ng CKY, Chen ES, Renwick A, Wang T, Nanda S, Shea M, Mitchell T, Rajendran M, Waters I, Zabransky DJ, Scott KL, Gutierrez C, Nagi C, Geyer FC, Chamness GC, Park BH, Shaw CA, Hilsenbeck SG, Rimawi MF, Gray JW, Weigelt B, Reis-Filho JS, Osborne CK, Schiff R. HER2 Reactivation through Acquisition of the HER2 L755S Mutation as a Mechanism of Acquired Resistance to HER2-targeted Therapy in HER2+ Breast Cancer. Clin Cancer Res. 2017 Sep 01; 23(17):5123-5134. PMID: 28487443; PMCID: PMC5762201.
      Citations: 39     Fields:    Translation:HumansAnimalsCells
    50. Hause AM, Henke DM, Avadhanula V, Shaw CA, Tapia LI, Piedra PA. Sequence variability of the respiratory syncytial virus (RSV) fusion gene among contemporary and historical genotypes of RSV/A and RSV/B. PLoS One. 2017; 12(4):e0175792. PMID: 28414749; PMCID: PMC5393888.
      Citations: 26     Fields:    Translation:HumansCells
    51. 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:    
    52. Kong X, Simon LM, Holinstat M, Shaw CA, Bray PF, Edelstein LC. Identification of a functional genetic variant driving racially dimorphic platelet gene expression of the thrombin receptor regulator, PCTP. Thromb Haemost. 2017 05 03; 117(5):962-970. PMID: 28251237; PMCID: PMC5512274.
      Citations: 3     Fields:    Translation:HumansCells
    53. 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
    54. 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
    55. 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
    56. Saxena K, Simon LM, Zeng XL, Blutt SE, Crawford SE, Sastri NP, Karandikar UC, Ajami NJ, Zachos NC, Kovbasnjuk O, Donowitz M, Conner ME, Shaw CA, Estes MK. A paradox of transcriptional and functional innate interferon responses of human intestinal enteroids to enteric virus infection. Proc Natl Acad Sci U S A. 2017 01 24; 114(4):E570-E579. PMID: 28069942; PMCID: PMC5278484.
      Citations: 62     Fields:    Translation:HumansAnimalsCells
    57. 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
    58. 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
    59. Chaudhury A, Cheema S, Fachini JM, Kongchan N, Lu G, Simon LM, Wang T, Mao S, Rosen DG, Ittmann MM, Hilsenbeck SG, Shaw CA, Neilson JR. CELF1 is a central node in post-transcriptional regulatory programmes underlying EMT. Nat Commun. 2016 11 21; 7:13362. PMID: 27869122; PMCID: PMC5121338.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    60. Singh R, Normand EA, Qdaisat S, van den Veyver IB, Jackson L, Hatt L, Schelde P, Uldbjerg N, Vestergaard EM, Zhao L, Chen R, Shaw CA, Breman AM, Beaudet AL, K?lvraa S. Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women. Prenat Diagn. 2016 Dec; 36(12):1127-1134. PMID: 27761919.
      Citations: 29     Fields:    Translation:Humans
    61. 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
    62. Belmont JW, Shaw CA. Clinical bioinformatics: emergence of a new laboratory discipline. Expert Rev Mol Diagn. 2016 11; 16(11):1139-1141. PMID: 27715336.
      Citations: 1     Fields:    Translation:Humans
    63. Hasegawa K, Mansbach JM, Ajami NJ, Espinola JA, Henke DM, Petrosino JF, Piedra PA, Shaw CA, Sullivan AF, Camargo CA, the MARC-35 Investigators. Association of nasopharyngeal microbiota profiles with bronchiolitis severity in infants hospitalised for bronchiolitis. Eur Respir J. 2016 11; 48(5):1329-1339. PMID: 27799386; PMCID: PMC5459592.
      Citations: 80     Fields:    Translation:HumansCells
    64. Breman AM, Chow JC, U'Ren L, Normand EA, Qdaisat S, Zhao L, Henke DM, Chen R, Shaw CA, Jackson L, Yang Y, Vossaert L, Needham RH, Chang EJ, Campton D, Werbin JL, Seubert RC, Van den Veyver IB, Stilwell JL, Kaldjian EP, Beaudet AL. Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing. Prenat Diagn. 2016 Nov; 36(11):1009-1019. PMID: 27616633; PMCID: PMC5129580.
      Citations: 26     Fields:    Translation:HumansCellsCTClinical Trials
    65. Franco LM, Bucasas KL, Wells JM, Wang X, Zapata GE, Arden N, Renwick A, Yu P, Quarles JM, Bray MS, Couch RB, Belmont JW, Shaw CA, Ni?o D. Correction: Integrative genomic analysis of the human immune response to influenza vaccination. Elife. 2016 Aug 30; 5. PMID: 27576045; PMCID: PMC5005031.
      Citations: 1     Fields:    
    66. Normand E, Qdaisat S, Bi W, Shaw C, Van den Veyver I, Beaudet A, Breman A. Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells. Prenat Diagn. 2016 Sep; 36(9):823-30. PMID: 27368744.
      Citations: 10     Fields:    Translation:HumansCells
    67. Sakai Y, Fukai R, Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazuki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T. De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy. Ann Hum Genet. 2016 Jul; 80(4):235-40. PMID: 27346735.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    68. Simon LM, Chen ES, Edelstein LC, Kong X, Bhatlekar S, Rigoutsos I, Bray PF, Shaw CA. Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2. Am J Hum Genet. 2016 05 05; 98(5):883-897. PMID: 27132591; PMCID: PMC4863560.
      Citations: 15     Fields:    Translation:HumansCells
    69. Mansbach JM, Hasegawa K, Henke DM, Ajami NJ, Petrosino JF, Shaw CA, Piedra PA, Sullivan AF, Espinola JA, Camargo CA. Respiratory syncytial virus and rhinovirus severe bronchiolitis are associated with distinct nasopharyngeal microbiota. J Allergy Clin Immunol. 2016 06; 137(6):1909-1913.e4. PMID: 27061249; PMCID: PMC4899255.
      Citations: 49     Fields:    Translation:HumansCellsCTClinical Trials
    70. Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, Perdeaux ER, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N. Corrigendum: Mutations in the transcriptional repressor REST predispose to Wilms tumor. Nat Genet. 2016 Apr; 48(4):473. PMID: 27023775.
      Citations:    Fields:    
    71. 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
    72. 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
    73. 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:    
    74. 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
    75. Mahamdallie SS, Hanks S, Karlin KL, Zachariou A, Perdeaux ER, Ruark E, Shaw CA, Renwick A, Ramsay E, Yost S, Elliott A, Birch J, Capra M, Gray J, Hale J, Kingston J, Levitt G, McLean T, Sheridan E, Renwick A, Seal S, Stiller C, Sebire N, Westbrook TF, Rahman N. Mutations in the transcriptional repressor REST predispose to Wilms tumor. Nat Genet. 2015 Dec; 47(12):1471-4. PMID: 26551668.
      Citations: 22     Fields:    Translation:Humans
    76. Zhou Y, Abraham S, Andre P, Edelstein LC, Shaw CA, Dangelmaier CA, Tsygankov AY, Kunapuli SP, Bray PF, McKenzie SE. Anti-miR-148a regulates platelet Fc?RIIA signaling and decreases thrombosis in vivo in mice. Blood. 2015 Dec 24; 126(26):2871-81. PMID: 26516227; PMCID: PMC4692146.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    77. Baldwin PR, Curtis KN, Patriquin MA, Wolf V, Viswanath H, Shaw C, Sakai Y, Salas R. Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder. Autism Res. 2016 05; 9(5):553-62. PMID: 26451751.
      Citations: 7     Fields:    Translation:HumansAnimals
    78. Villanueva H, Visbal AP, Obeid NF, Ta AQ, Faruki AA, Wu MF, Hilsenbeck SG, Shaw CA, Yu P, Plummer NW, Birnbaumer L, Lewis MT. An essential role for Ga(i2) in Smoothened-stimulated epithelial cell proliferation in the mammary gland. Sci Signal. 2015 Sep 15; 8(394):ra92. PMID: 26373672.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    79. Hsu TY, Simon LM, Neill NJ, Marcotte R, Sayad A, Bland CS, Echeverria GV, Sun T, Kurley SJ, Tyagi S, Karlin KL, Hartman JD, Renwick A, Scorsone K, Bernardi RJ, Skinner SO, Jain A, Orellana M, Lagisetti C, Golding I, Jung SY, Neilson JR, Zhang XH, Cooper TA, Webb TR, Neel BG, Shaw CA, Westbrook TF, Dominguez-Vida?a R. The spliceosome is a therapeutic vulnerability in MYC-driven cancer. Nature. 2015 Sep 17; 525(7569):384-8. PMID: 26331541; PMCID: PMC4831063.
      Citations: 211     Fields:    Translation:HumansAnimalsCells
    80. 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
    81. Zhai Y, Franco LM, Atmar RL, Quarles JM, Arden N, Bucasas KL, Wells JM, Wang X, Zapata GE, Shaw CA, Belmont JW, Couch RB, Ni?o D. Host Transcriptional Response to Influenza and Other Acute Respiratory Viral Infections--A Prospective Cohort Study. PLoS Pathog. 2015 Jun; 11(6):e1004869. PMID: 26070066; PMCID: PMC4466531.
      Citations: 60     Fields:    Translation:HumansCells
    82. Qayyum R, Becker LC, Becker DM, Faraday N, Yanek LR, Leal SM, Shaw C, Mathias R, Suktitipat B, Bray PF. Genome-wide association study of platelet aggregation in African Americans. BMC Genet. 2015 May 30; 16:58. PMID: 26024889; PMCID: PMC4448541.
      Citations: 27     Fields:    Translation:Humans
    83. 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
    84. 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
    85. Chen L, Chen K, Lavery LA, Baker SA, Shaw CA, Li W, Zoghbi HY. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci U S A. 2015 Apr 28; 112(17):5509-14. PMID: 25870282; PMCID: PMC4418849.
      Citations: 132     Fields:    Translation:AnimalsCells
    86. 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
    87. Londin E, Loher P, Telonis AG, Quann K, Clark P, Jing Y, Hatzimichael E, Kirino Y, Honda S, Lally M, Ramratnam B, Comstock CE, Knudsen KE, Gomella L, Spaeth GL, Hark L, Katz LJ, Witkiewicz A, Rostami A, Jimenez SA, Hollingsworth MA, Yeh JJ, Shaw CA, McKenzie SE, Bray P, Nelson PT, Zupo S, Van Roosbroeck K, Keating MJ, Calin GA, Yeo C, Jimbo M, Cozzitorto J, Brody JR, Delgrosso K, Mattick JS, Fortina P, Rigoutsos I. Analysis of 13 cell types reveals evidence for the expression of numerous novel primate- and tissue-specific microRNAs. Proc Natl Acad Sci U S A. 2015 Mar 10; 112(10):E1106-15. PMID: 25713380; PMCID: PMC4364231.
      Citations: 184     Fields:    Translation:AnimalsCells
    88. Shaw CA, Campbell IM. Variant interpretation through Bayesian fusion of frequency and genomic knowledge. Genome Med. 2015; 7(1):4. PMID: 25632303; PMCID: PMC4308929.
      Citations: 1     Fields:    
    89. Startek M, Szafranski P, Gambin T, Campbell IM, Hixson P, Shaw CA, Stankiewicz P, Gambin A. Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination. Nucleic Acids Res. 2015 Feb 27; 43(4):2188-98. PMID: 25613453; PMCID: PMC4344489.
      Citations: 37     Fields:    Translation:HumansCells
    90. Giuliano M, Herrera S, Christiny P, Shaw C, Creighton CJ, Mitchell T, Bhat R, Zhang X, Mao S, Dobrolecki LE, Al-rawi A, Chen F, Veneziani BM, Zhang XH, Hilsenbeck SG, Contreras A, Gutierrez C, Jeselsohn RM, Rimawi MF, Osborne CK, Lewis MT, Schiff R, Trivedi MV. Circulating and disseminated tumor cells from breast cancer patient-derived xenograft-bearing mice as a novel model to study metastasis. Breast Cancer Res. 2015 Jan 09; 17:3. PMID: 25572662; PMCID: PMC4318479.
      Citations: 32     Fields:    Translation:HumansAnimalsCells
    91. Karlin KL, Mondal G, Hartman JK, Tyagi S, Kurley SJ, Bland CS, Hsu TY, Renwick A, Fang JE, Migliaccio I, Callaway C, Nair A, Dominguez-Vidana R, Nguyen DX, Osborne CK, Schiff R, Yu-Lee LY, Jung SY, Edwards DP, Hilsenbeck SG, Rosen JM, Zhang XH, Shaw CA, Couch FJ, Westbrook TF. The oncogenic STP axis promotes triple-negative breast cancer via degradation of the REST tumor suppressor. Cell Rep. 2014 Nov 20; 9(4):1318-32. PMID: 25453754; PMCID: PMC4427000.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    92. Edelstein LC, Simon LM, Lindsay CR, Kong X, Tourdot BE, Chen ES, Ma L, Coughlin S, Nieman M, Holinstat M, Shaw CA, Bray PF, Teruel-Montoya R. Common variants in the human platelet PAR4 thrombin receptor alter platelet function and differ by race. Blood. 2014 Nov 27; 124(23):3450-8. PMID: 25293779; PMCID: PMC4246040.
      Citations: 48     Fields:    Translation:HumansCells
    93. Campbell IM, Gambin T, Dittwald P, Beck CR, Shuvarikov A, Hixson P, Patel A, Gambin A, Shaw CA, Rosenfeld JA, Stankiewicz P. Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination. BMC Biol. 2014 Sep 23; 12:74. PMID: 25246103; PMCID: PMC4195946.
      Citations: 28     Fields:    Translation:HumansCells
    94. 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
    95. Campbell IM, James RA, Chen ES, Shaw CA. NetComm: a network analysis tool based on communicability. Bioinformatics. 2014 Dec 01; 30(23):3387-9. PMID: 25123899; PMCID: PMC4274347.
      Citations:    Fields:    Translation:Humans
    96. 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
    97. Teruel-Montoya R, Kong X, Abraham S, Ma L, Kunapuli SP, Holinstat M, Shaw CA, McKenzie SE, Edelstein LC, Bray PF. MicroRNA expression differences in human hematopoietic cell lineages enable regulated transgene expression. PLoS One. 2014; 9(7):e102259. PMID: 25029370; PMCID: PMC4100820.
      Citations: 36     Fields:    Translation:HumansCells
    98. Galloway JN, Shaw C, Yu P, Parghi D, Poidevin M, Jin P, Nelson DL. CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome. Hum Mol Genet. 2014 Nov 15; 23(22):5906-15. PMID: 24986919; PMCID: PMC4204772.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    99. Putluri N, Maity S, Kommagani R, Kommangani R, Creighton CJ, Putluri V, Chen F, Nanda S, Bhowmik SK, Terunuma A, Dorsey T, Nardone A, Fu X, Shaw C, Sarkar TR, Schiff R, Lydon JP, O'Malley BW, Ambs S, Das GM, Michailidis G, Sreekumar A. Pathway-centric integrative analysis identifies RRM2 as a prognostic marker in breast cancer associated with poor survival and tamoxifen resistance. Neoplasia. 2014 May; 16(5):390-402. PMID: 25016594; PMCID: PMC4198742.
      Citations: 37     Fields:    Translation:HumansCells
    100. Sakai Y, Souzaki R, Yamamoto H, Matsushita Y, Nagata H, Ishizaki Y, Torisu H, Oda Y, Taguchi T, Shaw CA, Hara T. Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. BMC Med Genomics. 2014 Apr 22; 7:19. PMID: 24755370; PMCID: PMC4021669.
      Citations: 1     Fields:    Translation:HumansCells
    101. Shaw CA, Aideyan LO, Jewell AM, Dawson BC, Haq TR, Piedra PA, Tapia LI. Gene sequence variability of the three surface proteins of human respiratory syncytial virus (HRSV) in Texas. PLoS One. 2014; 9(3):e90786. PMID: 24625544; PMCID: PMC3953119.
      Citations: 26     Fields:    Translation:HumansCells
    102. Londin ER, Hatzimichael E, Loher P, Edelstein L, Shaw C, Delgrosso K, Fortina P, Bray PF, McKenzie SE, Rigoutsos I. The human platelet: strong transcriptome correlations among individuals associate weakly with the platelet proteome. Biol Direct. 2014 Feb 14; 9:3. PMID: 24524654; PMCID: PMC3937023.
      Citations: 34     Fields:    Translation:HumansCells
    103. Simon LM, Edelstein LC, Nagalla S, Woodley AB, Chen ES, Kong X, Ma L, Fortina P, Kunapuli S, Holinstat M, McKenzie SE, Dong JF, Shaw CA, Bray PF. Human platelet microRNA-mRNA networks associated with age and gender revealed by integrated plateletomics. Blood. 2014 Apr 17; 123(16):e37-45. PMID: 24523238; PMCID: PMC3990915.
      Citations: 96     Fields:    Translation:HumansCells
    104. Yu P, Shaw CA. An efficient algorithm for accurate computation of the Dirichlet-multinomial log-likelihood function. Bioinformatics. 2014 Jun 01; 30(11):1547-54. PMID: 24519380; PMCID: PMC4081639.
      Citations: 9     Fields:    Translation:Humans
    105. 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
    106. Bartnik M, Nowakowska B, Derwinska K, Wisniowiecka-Kowalnik B, Kedzior M, Bernaciak J, Ziemkiewicz K, Gambin T, Sykulski M, Bezniakow N, Korniszewski L, Kutkowska-Kazmierczak A, Klapecki J, Szczaluba K, Shaw CA, Mazurczak T, Gambin A, Obersztyn E, Bocian E, Stankiewicz P. Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability. J Appl Genet. 2014 Feb; 55(1):125-44. PMID: 24297458; PMCID: PMC3909616.
      Citations: 18     Fields:    Translation:Humans
    107. Edelstein LC, Simon LM, Holinstat M, Chen ES, Bergeron A, Kong X, Nagalla S, Mohandas N, Cohen DE, Dong JF, Shaw C, Bray PF, Montoya RT. Racial differences in human platelet PAR4 reactivity reflect expression of PCTP and miR-376c. Nat Med. 2013 Dec; 19(12):1609-16. PMID: 24216752; PMCID: PMC3855898.
      Citations: 97     Fields:    Translation:HumansCells
    108. 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
    109. Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. Am J Med Genet A. 2013 Oct; 161A(10):2487-94. PMID: 23918653; PMCID: PMC3788034.
      Citations: 4     Fields:    Translation:HumansCells
    110. Franco LM, Bucasas KL, Wells JM, Wang X, Zapata GE, Arden N, Renwick A, Yu P, Quarles JM, Bray MS, Couch RB, Belmont JW, Shaw CA, Ni?o D. Integrative genomic analysis of the human immune response to influenza vaccination. Elife. 2013 Jul 16; 2:e00299. PMID: 23878721; PMCID: PMC3713456.
      Citations: 80     Fields:    Translation:HumansCellsPHPublic Health
    111. Sakai Y, Ohkubo K, Matsushita Y, Akamine S, Ishizaki Y, Torisu H, Ihara K, Sanefuji M, Kim MS, Lee KU, Shaw CA, Lim J, Nakabeppu Y, Hara T. Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus. Eur J Med Genet. 2013 Sep; 56(9):475-83. PMID: 23832106.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    112. 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
    113. Zhang X, Claerhout S, Prat A, Dobrolecki LE, Petrovic I, Lai Q, Landis MD, Wiechmann L, Schiff R, Giuliano M, Wong H, Fuqua SW, Contreras A, Gutierrez C, Huang J, Mao S, Pavlick AC, Froehlich AM, Wu MF, Tsimelzon A, Hilsenbeck SG, Chen ES, Zuloaga P, Shaw CA, Rimawi MF, Perou CM, Mills GB, Chang JC, Lewis MT. A renewable tissue resource of phenotypically stable, biologically and ethnically diverse, patient-derived human breast cancer xenograft models. Cancer Res. 2013 Aug 01; 73(15):4885-97. PMID: 23737486; PMCID: PMC3732575.
      Citations: 223     Fields:    Translation:HumansAnimalsCells
    114. Park J, Al-Ramahi I, Tan Q, Mollema N, Diaz-Garcia JR, Gallego-Flores T, Lu HC, Lagalwar S, Duvick L, Kang H, Lee Y, Jafar-Nejad P, Sayegh LS, Richman R, Liu X, Gao Y, Shaw CA, Arthur JSC, Orr HT, Westbrook TF, Botas J, Zoghbi HY. RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1. Nature. 2013 Jun 20; 498(7454):325-331. PMID: 23719381; PMCID: PMC4020154.
      Citations: 74     Fields:    Translation:HumansAnimalsCells
    115. 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
    116. 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
    117. 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
    118. Kahle JJ, Souroullas GP, Yu P, Zohren F, Lee Y, Shaw CA, Zoghbi HY, Goodell MA. Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery. PLoS Genet. 2013 Mar; 9(3):e1003359. PMID: 23555280; PMCID: PMC3610904.
      Citations: 1     Fields:    Translation:AnimalsCells
    119. 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
    120. Bucasas KL, Mian AI, Demmler-Harrison GJ, Caviness AC, Piedra PA, Franco LM, Shaw CA, Zhai Y, Wang X, Bray MS, Couch RB, Belmont JW. Global gene expression profiling in infants with acute respiratory syncytial virus broncholitis demonstrates systemic activation of interferon signaling networks. Pediatr Infect Dis J. 2013 Feb; 32(2):e68-76. PMID: 23190772.
      Citations: 20     Fields:    Translation:HumansCells
    121. 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
    122. Wisniowiecka-Kowalnik B, Kastory-Bronowska M, Bartnik M, Derwinska K, Dymczak-Domini W, Szumbarska D, Ziemka E, Szczaluba K, Sykulski M, Gambin T, Gambin A, Shaw CA, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P. Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. Eur J Hum Genet. 2013 Jun; 21(6):620-5. PMID: 23032108; PMCID: PMC3658201.
      Citations: 17     Fields:    Translation:HumansCells
    123. 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
    124. 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
    125. Bartnik M, Szczepanik E, Derwinska K, Wisniowiecka-Kowalnik B, Gambin T, Sykulski M, Ziemkiewicz K, Kedzior M, Gos M, Hoffman-Zacharska D, Mazurczak T, Jeziorek A, Antczak-Marach D, Rudzka-Dybala M, Mazurkiewicz H, Goszczanska-Ciuchta A, Zalewska-Miszkurka Z, Terczynska I, Sobierajewicz M, Shaw CA, Gambin A, Mierzewska H, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P. Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2012 Oct; 159B(7):760-71. PMID: 22825934.
      Citations: 24     Fields:    Translation:Humans
    126. Derwinska K, Bartnik M, Wisniowiecka-Kowalnik B, Jagla M, Rudzinski A, Pietrzyk JJ, Kawalec W, Kutkowska-Kazmierczak A, Gambin T, Sykulski M, Shaw CA, Gambin A, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P, Zi?lkowska L. Assessment of the role of copy-number variants in 150 patients with congenital heart defects. Med Wieku Rozwoj. 2012 Jul-Sep; 16(3):175-82. PMID: 23378395.
      Citations: 11     Fields:    Translation:Humans
    127. 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
    128. James RA, Rao MM, Chen ES, Goodell MA, Shaw CA. The Hematopoietic Expression Viewer: expanding mobile apps as a scientific tool. Bioinformatics. 2012 Jul 15; 28(14):1941-2. PMID: 22576171; PMCID: PMC3491999.
      Citations: 4     Fields:    Translation:HumansCells
    129. Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH, Goin-Kochel RP, Beaudet AL, Celestino-Soper PB, Vaz FM. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A. 2012 May 22; 109(21):7974-81. PMID: 22566635; PMCID: PMC3361440.
      Citations: 60     Fields:    Translation:HumansCells
    130. Edelstein LC, Luna EJ, Gibson IB, Bray M, Jin Y, Kondkar A, Nagalla S, Hadjout-Rabi N, Smith TC, Covarrubias D, Jones SN, Ahmad F, Stolla M, Kong X, Fang Z, Bergmeier W, Shaw C, Leal SM, Bray PF. Human genome-wide association and mouse knockout approaches identify platelet supervillin as an inhibitor of thrombus formation under shear stress. Circulation. 2012 Jun 05; 125(22):2762-71. PMID: 22550155; PMCID: PMC3515852.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    131. 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
    132. Baradaran-Heravi A, Cho KS, Tolhuis B, Sanyal M, Morozova O, Morimoto M, Elizondo LI, Bridgewater D, Lubieniecka J, Beirnes K, Myung C, Leung D, Fam HK, Choi K, Huang Y, Dionis KY, Zonana J, Keller K, Stenzel P, Mayfield C, Bokenkamp A, Marra MA, van Lohuizen M, Lewis DB, Shaw C, Boerkoel CF, L?cke T. Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Hum Mol Genet. 2012 Jun 01; 21(11):2572-87. PMID: 22378147; PMCID: PMC3349428.
      Citations: 30     Fields:    Translation:HumansAnimalsCells
    133. Samaco RC, Mandel-Brehm C, McGraw CM, Shaw CA, McGill BE, Zoghbi HY. Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nat Genet. 2012 Jan 08; 44(2):206-11. PMID: 22231481; PMCID: PMC3267865.
      Citations: 70     Fields:    Translation:Animals
    134. 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
    135. Kessler JD, Kahle KT, Sun T, Meerbrey KL, Schlabach MR, Schmitt EM, Skinner SO, Xu Q, Li MZ, Hartman ZC, Rao M, Yu P, Dominguez-Vidana R, Liang AC, Solimini NL, Bernardi RJ, Yu B, Hsu T, Golding I, Luo J, Osborne CK, Creighton CJ, Hilsenbeck SG, Schiff R, Shaw CA, Elledge SJ, Westbrook TF. A SUMOylation-dependent transcriptional subprogram is required for Myc-driven tumorigenesis. Science. 2012 Jan 20; 335(6066):348-53. PMID: 22157079; PMCID: PMC4059214.
      Citations: 223     Fields:    Translation:HumansAnimalsCells
    136. Stewart LR, Hall AL, Kang SH, Shaw CA, Beaudet AL. High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy. BMC Med Genet. 2011 Nov 25; 12:154. PMID: 22118685; PMCID: PMC3239290.
      Citations: 25     Fields:    Translation:HumansCells
    137. Fryer JD, Yu P, Kang H, Mandel-Brehm C, Carter AN, Crespo-Barreto J, Gao Y, Flora A, Shaw C, Orr HT, Zoghbi HY. Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science. 2011 Nov 04; 334(6056):690-3. PMID: 22053053; PMCID: PMC3232424.
      Citations: 80     Fields:    Translation:Animals
    138. Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79. PMID: 21948486; PMCID: PMC3655525.
      Citations: 21     Fields:    Translation:HumansCells
    139. Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG, Davis L, Thomson S, Gambin T, Chinault AC, Ou Z, German JR, Milosavljevic A, Sutcliffe JS, Cook EH, Stankiewicz P, State MW, Beaudet AL. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Hum Mol Genet. 2011 Nov 15; 20(22):4360-70. PMID: 21865298; PMCID: PMC3196886.
      Citations: 54     Fields:    Translation:Humans
    140. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW, G?nel M. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011 Jun 09; 70(5):863-85. PMID: 21658581; PMCID: PMC3939065.
      Citations: 620     Fields:    Translation:HumansCells
    141. Sakai Y, Shaw CA, Dawson BC, Dugas DV, Al-Mohtaseb Z, Hill DE, Zoghbi HY. Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med. 2011 Jun 08; 3(86):86ra49. PMID: 21653829; PMCID: PMC3169432.
      Citations: 109     Fields:    Translation:HumansAnimalsCells
    142. Nagalla S, Shaw C, Kong X, Kondkar AA, Edelstein LC, Ma L, Chen J, McKnight GS, Yang L, Jin Y, Bray MS, Leal SM, Dong JF, Bray PF, L?pez JA. Platelet microRNA-mRNA coexpression profiles correlate with platelet reactivity. Blood. 2011 May 12; 117(19):5189-97. PMID: 21415270; PMCID: PMC3109541.
      Citations: 127     Fields:    Translation:HumansCells
    143. Sun T, Aceto N, Meerbrey KL, Kessler JD, Zhou C, Migliaccio I, Nguyen DX, Pavlova NN, Botero M, Huang J, Bernardi RJ, Schmitt E, Hu G, Li MZ, Dephoure N, Gygi SP, Rao M, Creighton CJ, Hilsenbeck SG, Shaw CA, Muzny D, Gibbs RA, Wheeler DA, Osborne CK, Schiff R, Bentires-Alj M, Elledge SJ, Westbrook TF. Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase. Cell. 2011 Mar 04; 144(5):703-18. PMID: 21376233; PMCID: PMC6014607.
      Citations: 139     Fields:    Translation:HumansCells
    144. Bucasas KL, Franco LM, Shaw CA, Bray MS, Wells JM, Arden N, Quarles JM, Couch RB, Belmont JW, Ni?o D. Early patterns of gene expression correlate with the humoral immune response to influenza vaccination in humans. J Infect Dis. 2011 Apr 01; 203(7):921-9. PMID: 21357945; PMCID: PMC3068032.
      Citations: 109     Fields:    Translation:Humans
    145. 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
    146. Ramocki MB, Bartnik M, Szafranski P, Kolodziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, McAlmon K, Cohen MP, McGrath J, Roeder E, Mueller J, Kang SH, Bacino CA, Patel A, Bocian E, Shaw CA, Cheung SW, Mazurczak T, Stankiewicz P. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet. 2010 Dec 10; 87(6):857-65. PMID: 21109226; PMCID: PMC2997378.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
    147. Kahle JJ, Gulbahce N, Shaw CA, Lim J, Hill DE, Zoghbi HY, Barab?si AL. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Hum Mol Genet. 2011 Feb 01; 20(3):510-27. PMID: 21078624; PMCID: PMC3016911.
      Citations: 27     Fields:    Translation:HumansAnimalsCells
    148. 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
    149. Tannour-Louet M, Han S, Corbett ST, Louet JF, Yatsenko S, Meyers L, Shaw CA, Kang SH, Cheung SW, Lamb DJ. Identification of de novo copy number variants associated with human disorders of sexual development. PLoS One. 2010 Oct 26; 5(10):e15392. PMID: 21048976; PMCID: PMC2964326.
      Citations: 63     Fields:    Translation:Humans
    150. Shao L, Kang SH, Li J, Hixson P, Taylor J, Yatsenko SA, Shaw CA, Milosavljevic A, Chang CC, Cheung SW, Patel A. Array comparative genomic hybridization detects chromosomal abnormalities in hematological cancers that are not detected by conventional cytogenetics. J Mol Diagn. 2010 Sep; 12(5):670-9. PMID: 20724749; PMCID: PMC2928432.
      Citations: 9     Fields:    Translation:HumansCells
    151. Polikepahad S, Knight JM, Naghavi AO, Oplt T, Creighton CJ, Shaw C, Benham AL, Kim J, Soibam B, Harris RA, Coarfa C, Zariff A, Milosavljevic A, Batts LM, Kheradmand F, Gunaratne PH, Corry DB. Proinflammatory role for let-7 microRNAS in experimental asthma. J Biol Chem. 2010 Sep 24; 285(39):30139-49. PMID: 20630862; PMCID: PMC2943272.
      Citations: 108     Fields:    Translation:HumansAnimals
    152. Crespo-Barreto J, Fryer JD, Shaw CA, Orr HT, Zoghbi HY. Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet. 2010 Jul 08; 6(7):e1001021. PMID: 20628574; PMCID: PMC2900305.
      Citations: 69     Fields:    Translation:AnimalsCells
    153. 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
    154. Chinault AC, Shaw CA, Brundage EK, Tang LY, Wong LJ. Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes. Genet Med. 2009 Jul; 11(7):518-26. PMID: 19546809.
      Citations: 18     Fields:    Translation:Humans
    155. Li L, Shen JJ, Bournat JC, Huang L, Chattopadhyay A, Li Z, Shaw C, Graham BH, Brown CW. Activin signaling: effects on body composition and mitochondrial energy metabolism. Endocrinology. 2009 Aug; 150(8):3521-9. PMID: 19389832; PMCID: PMC2717868.
      Citations: 23     Fields:    Translation:Animals
    156. Ben-Shachar S, Chahrour M, Thaller C, Shaw CA, Zoghbi HY. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet. 2009 Jul 01; 18(13):2431-42. PMID: 19369296; PMCID: PMC2694691.
      Citations: 133     Fields:    Translation:HumansAnimals
    157. 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
    158. 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
    159. El-Serag HB, Nurgalieva ZZ, Mistretta TA, Finegold MJ, Souza R, Hilsenbeck S, Shaw C, Darlington G. Gene expression in Barrett's esophagus: laser capture versus whole tissue. Scand J Gastroenterol. 2009; 44(7):787-95. PMID: 19391063; PMCID: PMC2822542.
      Citations: 23     Fields:    Translation:Humans
    160. 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
    161. 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
    162. Morello R, Bertin TK, Schlaubitz S, Shaw CA, Kakuru S, Munivez E, Hermanns P, Chen Y, Zabel B, Lee B. Brachy-syndactyly caused by loss of Sfrp2 function. J Cell Physiol. 2008 Oct; 217(1):127-37. PMID: 18446812; PMCID: PMC2677682.
      Citations: 27     Fields:    Translation:AnimalsCells
    163. 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
    164. Reid JG, Nagaraja AK, Lynn FC, Drabek RB, Muzny DM, Shaw CA, Weiss MK, Naghavi AO, Khan M, Zhu H, Tennakoon J, Gunaratne GH, Corry DB, Miller J, McManus MT, German MS, Gibbs RA, Matzuk MM, Gunaratne PH. Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes. Genome Res. 2008 Oct; 18(10):1571-81. PMID: 18614752; PMCID: PMC2556275.
      Citations: 49     Fields:    Translation:AnimalsCells
    165. Gu P, Reid JG, Gao X, Shaw CA, Creighton C, Tran PL, Zhou X, Drabek RB, Steffen DL, Hoang DM, Weiss MK, Naghavi AO, El-daye J, Khan MF, Legge GB, Wheeler DA, Gibbs RA, Miller JN, Cooney AJ, Gunaratne PH. Novel microRNA candidates and miRNA-mRNA pairs in embryonic stem (ES) cells. PLoS One. 2008 Jul 02; 3(7):e2548. PMID: 18648548; PMCID: PMC2481296.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    166. Patel A, Kang SH, Lennon PA, Li YF, Rao PN, Abruzzo L, Shaw C, Chinault AC, Cheung SW. Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia. Am J Hematol. 2008 Jul; 83(7):540-6. PMID: 18161787.
      Citations: 13     Fields:    Translation:HumansCellsCTClinical Trials
    167. Shinawi M, Shao L, Jeng LJ, Shaw CA, Patel A, Bacino C, Sutton VR, Belmont J, Cheung SW. Low-level mosaicism of trisomy 14: phenotypic and molecular characterization. Am J Med Genet A. 2008 Jun 01; 146A(11):1395-405. PMID: 18412278.
      Citations: 9     Fields:    Translation:HumansCells
    168. Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, Zoghbi HY. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008 May 30; 320(5880):1224-9. PMID: 18511691; PMCID: PMC2443785.
      Citations: 868     Fields:    Translation:AnimalsCells
    169. Ou Z, Kang SH, Shaw CA, Carmack CE, White LD, Patel A, Beaudet AL, Cheung SW, Chinault AC. Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med. 2008 Apr; 10(4):278-89. PMID: 18414211; PMCID: PMC2782565.
      Citations: 54     Fields:    Translation:HumansCells
    170. Gatchel JR, Watase K, Thaller C, Carson JP, Jafar-Nejad P, Shaw C, Zu T, Orr HT, Zoghbi HY. The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proc Natl Acad Sci U S A. 2008 Jan 29; 105(4):1291-6. PMID: 18216249; PMCID: PMC2234131.
      Citations: 44     Fields:    Translation:AnimalsCells
    171. 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
    172. Bray MS, Shaw CA, Moore MW, Garcia RA, Zanquetta MM, Durgan DJ, Jeong WJ, Tsai JY, Bugger H, Zhang D, Rohrwasser A, Rennison JH, Dyck JR, Litwin SE, Hardin PE, Chow CW, Chandler MP, Abel ED, Young ME. Disruption of the circadian clock within the cardiomyocyte influences myocardial contractile function, metabolism, and gene expression. Am J Physiol Heart Circ Physiol. 2008 Feb; 294(2):H1036-47. PMID: 18156197.
      Citations: 155     Fields:    Translation:AnimalsCells
    173. Chambers SM, Boles NC, Lin KY, Tierney MP, Bowman TV, Bradfute SB, Chen AJ, Merchant AA, Sirin O, Weksberg DC, Merchant MG, Fisk CJ, Shaw CA, Goodell MA. Hematopoietic fingerprints: an expression database of stem cells and their progeny. Cell Stem Cell. 2007 Nov; 1(5):578-91. PMID: 18371395; PMCID: PMC2475548.
      Citations: 189     Fields:    Translation:AnimalsCells
    174. Visel A, Carson J, Oldekamp J, Warnecke M, Jakubcakova V, Zhou X, Shaw CA, Alvarez-Bolado G, Eichele G. Regulatory pathway analysis by high-throughput in situ hybridization. PLoS Genet. 2007 Oct; 3(10):1867-83. PMID: 17953485; PMCID: PMC2041993.
      Citations: 34     Fields:    Translation:AnimalsCells
    175. Kung TA, Egbejimi O, Cui J, Ha NP, Durgan DJ, Essop MF, Bray MS, Shaw CA, Hardin PE, Stanley WC, Young ME. Rapid attenuation of circadian clock gene oscillations in the rat heart following ischemia-reperfusion. J Mol Cell Cardiol. 2007 Dec; 43(6):744-53. PMID: 17959196; PMCID: PMC2699675.
      Citations: 21     Fields:    Translation:Animals
    176. 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
    177. 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
    178. Chambers SM, Shaw CA, Gatza C, Fisk CJ, Donehower LA, Goodell MA. Aging hematopoietic stem cells decline in function and exhibit epigenetic dysregulation. PLoS Biol. 2007 Aug; 5(8):e201. PMID: 17676974; PMCID: PMC1925137.
      Citations: 358     Fields:    Translation:HumansAnimalsCells
    179. Durgan DJ, Moore MW, Ha NP, Egbejimi O, Fields A, Mbawuike U, Egbejimi A, Shaw CA, Bray MS, Nannegari V, Hickson-Bick DL, Heird WC, Dyck JR, Chandler MP, Young ME. Circadian rhythms in myocardial metabolism and contractile function: influence of workload and oleate. Am J Physiol Heart Circ Physiol. 2007 Oct; 293(4):H2385-93. PMID: 17616739.
      Citations: 30     Fields:    Translation:AnimalsCells
    180. Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A. 2007 Jun 15; 143A(12):1358-65. PMID: 17506108.
      Citations: 28     Fields:    Translation:HumansCells
    181. Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet. 2007 Sep; 15(9):943-9. PMID: 17522620.
      Citations: 38     Fields:    Translation:HumansCells
    182. Watase K, Gatchel JR, Sun Y, Emamian E, Atkinson R, Richman R, Mizusawa H, Orr HT, Shaw C, Zoghbi HY. Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med. 2007 May; 4(5):e182. PMID: 17535104; PMCID: PMC1880853.
      Citations: 72     Fields:    Translation:AnimalsCells
    183. 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
    184. 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
    185. Kustikova OS, Geiger H, Li Z, Brugman MH, Chambers SM, Shaw CA, Pike-Overzet K, de Ridder D, Staal FJ, von Keudell G, Cornils K, Nattamai KJ, Modlich U, Wagemaker G, Goodell MA, Fehse B, Baum C. Retroviral vector insertion sites associated with dominant hematopoietic clones mark "stemness" pathways. Blood. 2007 Mar 01; 109(5):1897-907. PMID: 17119121; PMCID: PMC1801061.
      Citations: 46     Fields:    Translation:HumansAnimalsCells
    186. 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
    187. Ramos CA, Bowman TA, Boles NC, Merchant AA, Zheng Y, Parra I, Fuqua SA, Shaw CA, Goodell MA. Evidence for diversity in transcriptional profiles of single hematopoietic stem cells. PLoS Genet. 2006 Sep 29; 2(9):e159. PMID: 17009876; PMCID: PMC1584276.
      Citations: 28     Fields:    Translation:AnimalsCells
    188. Peiffer DA, Le JM, Steemers FJ, Chang W, Jenniges T, Garcia F, Haden K, Li J, Shaw CA, Belmont J, Cheung SW, Shen RM, Barker DL, Gunderson KL. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res. 2006 Sep; 16(9):1136-48. PMID: 16899659; PMCID: PMC1557768.
      Citations: 259     Fields:    Translation:HumansCells
    189. El-Serag HB, Nurgalieva Z, Souza RF, Shaw C, Darlington G. Is genomic evaluation feasible in endoscopic studies of Barrett's esophagus? A pilot study. Gastrointest Endosc. 2006 Jul; 64(1):17-26. PMID: 16813797.
      Citations: 5     Fields:    Translation:HumansCells
    190. 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
    191. Durgan DJ, Trexler NA, Egbejimi O, McElfresh TA, Suk HY, Petterson LE, Shaw CA, Hardin PE, Bray MS, Chandler MP, Chow CW, Young ME. The circadian clock within the cardiomyocyte is essential for responsiveness of the heart to fatty acids. J Biol Chem. 2006 Aug 25; 281(34):24254-69. PMID: 16798731.
      Citations: 77     Fields:    Translation:AnimalsCells
    192. 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
    193. Yu W, Wang Y, Shaw CA, Qin XF, Rice AP. Induction of the HIV-1 Tat co-factor cyclin T1 during monocyte differentiation is required for the regulated expression of a large portion of cellular mRNAs. Retrovirology. 2006 Jun 09; 3:32. PMID: 16764723; PMCID: PMC1557533.
      Citations: 16     Fields:    Translation:HumansCells
    194. Lim J, Hao T, Shaw C, Patel AJ, Fisk CJ, Li N, Smolyar A, Hill DE, Vidal M, Zoghbi HY, Szab? G, Rual JF, Barab?si AL. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell. 2006 May 19; 125(4):801-14. PMID: 16713569.
      Citations: 362     Fields:    Translation:HumansAnimalsCells
    195. Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL. Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet A. 2005 Dec 01; 139A(2):106-13. PMID: 16284940.
      Citations: 18     Fields:    Translation:HumansCells
    196. Behbod F, Xian W, Shaw CA, Hilsenbeck SG, Tsimelzon A, Rosen JM. Transcriptional profiling of mammary gland side population cells. Stem Cells. 2006 Apr; 24(4):1065-74. PMID: 16282442.
      Citations: 17     Fields:    Translation:AnimalsCells
    197. Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 2005 Dec 01; 14(23):3723-40. PMID: 16254002.
      Citations: 43     Fields:    Translation:HumansAnimalsCells
    198. 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
    199. Durgan DJ, Hotze MA, Tomlin TM, Egbejimi O, Graveleau C, Abel ED, Shaw CA, Bray MS, Hardin PE, Young ME. The intrinsic circadian clock within the cardiomyocyte. Am J Physiol Heart Circ Physiol. 2005 Oct; 289(4):H1530-41. PMID: 15937094.
      Citations: 66     Fields:    Translation:AnimalsCells
    200. Agbemafle BM, Oesterreicher TJ, Shaw CA, Henning SJ. Immediate early genes of glucocorticoid action on the developing intestine. Am J Physiol Gastrointest Liver Physiol. 2005 May; 288(5):G897-906. PMID: 15826934.
      Citations: 13     Fields:    Translation:AnimalsCells
    201. Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, Shaw CA, Kashork CD, Heilstedt HA, Ansel DA, Theisen A, Rice R, Rice DP, Shaffer LG. Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. Eur J Hum Genet. 2005 Feb; 13(2):139-49. PMID: 15483646.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    202. Xu Q, Ibarra M, Mahadeo D, Shaw C, Huang E, Kuspa A, Cotter D, Shaulsky G. Transcriptional transitions during Dictyostelium spore germination. Eukaryot Cell. 2004 Oct; 3(5):1101-10. PMID: 15470238; PMCID: PMC522591.
      Citations: 14     Fields:    Translation:AnimalsCells
    203. Venezia TA, Merchant AA, Ramos CA, Whitehouse NL, Young AS, Shaw CA, Goodell MA. Molecular signatures of proliferation and quiescence in hematopoietic stem cells. PLoS Biol. 2004 Oct; 2(10):e301. PMID: 15459755; PMCID: PMC520599.
      Citations: 169     Fields:    Translation:HumansAnimalsCells
    204. Katoh M, Shaw C, Xu Q, Van Driessche N, Morio T, Kuwayama H, Obara S, Urushihara H, Tanaka Y, Shaulsky G. An orderly retreat: Dedifferentiation is a regulated process. Proc Natl Acad Sci U S A. 2004 May 04; 101(18):7005-10. PMID: 15103019; PMCID: PMC406456.
      Citations: 22     Fields:    Translation:Animals
    205. 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
    206. Kibler K, Svetz J, Nguyen TL, Shaw C, Shaulsky G. A cell-adhesion pathway regulates intercellular communication during Dictyostelium development. Dev Biol. 2003 Dec 15; 264(2):506-21. PMID: 14651934.
      Citations: 17     Fields:    Translation:Animals
    207. Kibler K, Nguyen TL, Svetz J, Van Driessche N, Ibarra M, Thompson C, Shaw C, Shaulsky G. A novel developmental mechanism in Dictyostelium revealed in a screen for communication mutants. Dev Biol. 2003 Jul 15; 259(2):193-208. PMID: 12871696.
      Citations: 10     Fields:    Translation:AnimalsCells
    208. Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet. 2003 Sep 01; 12(17):2145-52. PMID: 12915473.
      Citations: 30     Fields:    Translation:HumansCells
    209. Ballif BC, Yu W, Shaw CA, Kashork CD, Shaffer LG. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet. 2003 Sep 01; 12(17):2153-65. PMID: 12915474.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    210. Good JR, Cabral M, Sharma S, Yang J, Van Driessche N, Shaw CA, Shaulsky G, Kuspa A. TagA, a putative serine protease/ABC transporter of Dictyostelium that is required for cell fate determination at the onset of development. Development. 2003 Jul; 130(13):2953-65. PMID: 12756178.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    211. Yao H, Kristensen DM, Mihalek I, Sowa ME, Shaw C, Kimmel M, Kavraki L, Lichtarge O. An accurate, sensitive, and scalable method to identify functional sites in protein structures. J Mol Biol. 2003 Feb 07; 326(1):255-61. PMID: 12547207.
      Citations: 72     Fields:    Translation:Cells
    212. Shaw CA. Theoretical consideration of amplification strategies. Neurochem Res. 2002 Oct; 27(10):1123-31. PMID: 12462410.
      Citations: 2     Fields:    
    213. Olofsson P, Shaw CA. Exact sampling formulas for multi-type Galton-Watson processes. J Math Biol. 2002 Oct; 45(4):279-93. PMID: 12373340.
      Citations: 4     Fields:    
    214. Van Driessche N, Shaw C, Katoh M, Morio T, Sucgang R, Ibarra M, Kuwayama H, Saito T, Urushihara H, Maeda M, Takeuchi I, Ochiai H, Eaton W, Tollett J, Halter J, Kuspa A, Tanaka Y, Shaulsky G. A transcriptional profile of multicellular development in Dictyostelium discoideum. Development. 2002 Apr; 129(7):1543-52. PMID: 11923193.
      Citations: 54     Fields:    Translation:AnimalsCells
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