TitleAdjunct Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
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    Other Positions
    TitleAdjunct Professor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Pediatrics

    TitleAdjunct Professor
    InstitutionBaylor College of Medicine
    DepartmentHuman Genome Sequencing Center
    DivisionHuman Genome Sequencing Center

    Collapse Research 
    Collapse research activities and funding
    U01NS090362     (GOLDMAN, ALICA M)Sep 30, 2014 - Jul 31, 2020
    SUDEP Research Alliance: Systems Medicine Core, Application 3 of 7
    Role: Co-Principal Investigator

    R01HL090506     (BELMONT, JOHN WILLIAM)May 15, 2008 - Apr 30, 2014
    Genome Wide Association Study for Hypoplastic Left Heart and Related Defects
    Role: Principal Investigator

    R01HL091771     (BELMONT, JOHN WILLIAM)Feb 1, 2008 - Jan 31, 2014
    Novel Genomic Disorders Causing Cardiovascular Malformations
    Role: Principal Investigator

    P41HG003083     (BELMONT, JOHN WILLIAM)Apr 20, 2004 - Mar 31, 2008
    Indian and Hindu Perspectives on Genetic Variation
    Role: Principal Investigator

    R01HD039056     (BELMONT, JOHN WILLIAM)Sep 1, 2000 - May 31, 2006
    Role: Principal Investigator

    R01HD036280     (BELMONT, JOHN WILLIAM)Apr 1, 1998 - Mar 31, 2002
    Role: Principal Investigator

    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. Wigby KM, Brockman D, Costain G, Hale C, Taylor SL, Belmont J, Bick D, Dimmock D, Fernbach S, Greally J, Jobanputra V, Kulkarni S, Spiteri E, Taft RJ. Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders. NPJ Genom Med. 2024 Feb 26; 9(1):15. PMID: 38409289; PMCID: PMC10897481.
    2. Hong H, Schulze KV, Copeland IE, Atyam M, Kamp K, Hanchard NA, Belmont J, Ringel-Kulka T, Heitkemper M, Shulman RJ. Genetic Variants in Carbohydrate Digestive Enzyme and Transport Genes Associated with Risk of Irritable Bowel Syndrome. medRxiv. 2023 Sep 22. PMID: 37790351; PMCID: PMC10543038.
    3. Belmont JW. Genetic Epidemiology Highlights the Role?of Aortic Strain and Distensibility in?Cardiovascular Disease. J Am Coll Cardiol. 2023 04 11; 81(14):1336-1338. PMID: 37019579.
      Citations:    Fields:    Translation:Humans
    4. Belmont JW. Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome. J Cardiovasc Dev Dis. 2022 Sep 21; 9(10). PMID: 36286267; PMCID: PMC9604382.
    5. Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, de Leeuw N, Deans ZC, Eck SH, van der Crabben S, Balasubramanian M, Firth H, Ferlini A, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM, Riess O, Synofzik M, Dincer Y, Graessner H, Sturm M, Nabbout R. Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet. 2022 09; 30(9):1017-1021. PMID: 35577938; PMCID: PMC9437083.
      Citations:    Fields:    
    6. Austin-Tse CA, Jobanputra V, Perry DL, Bick D, Taft RJ, Venner E, Gibbs RA, Young T, Barnett S, Belmont JW, Boczek N, Chowdhury S, Ellsworth KA, Guha S, Kulkarni S, Marcou C, Meng L, Murdock DR, Rehman AU, Spiteri E, Thomas-Wilson A, Kearney HM, Rehm HL, Medical Genome Initiative*. Best practices for the interpretation and reporting of clinical whole genome sequencing. NPJ Genom Med. 2022 Apr 08; 7(1):27. PMID: 35395838; PMCID: PMC8993917.
    7. Taft RJ, Belmont JW. Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants-Reply. JAMA Pediatr. 2022 04 01; 176(4):422. PMID: 35129608.
      Citations:    Fields:    Translation:Humans
    8. NICUSeq Study Group, Krantz ID, Medne L, Weatherly JM, Wild KT, Biswas S, Devkota B, Hartman T, Brunelli L, Fishler KP, Abdul-Rahman O, Euteneuer JC, Hoover D, Dimmock D, Cleary J, Farnaes L, Knight J, Schwarz AJ, Vargas-Shiraishi OM, Wigby K, Zadeh N, Shinawi M, Wambach JA, Baldridge D, Cole FS, Wegner DJ, Urraca N, Holtrop S, Mostafavi R, Mroczkowski HJ, Pivnick EK, Ward JC, Talati A, Brown CW, Belmont JW, Ortega JL, Robinson KD, Brocklehurst WT, Perry DL, Ajay SS, Hagelstrom RT, Bennett M, Rajan V, Taft RJ. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr. 2021 12 01; 175(12):1218-1226. PMID: 34570182; PMCID: PMC8477301.
      Citations: 11     Fields:    Translation:Humans
    9. Incerti D, Xu XM, Chou JW, Gonzaludo N, Belmont JW, Schroeder BE. Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases. Genet Med. 2022 01; 24(1):109-118. PMID: 34906478.
      Citations: 1     Fields:    Translation:Humans
    10. Schroeder BE, Gonzaludo N, Everson K, Than KS, Sullivan J, Taft RJ, Belmont JW. The diagnostic trajectory of infants and children with clinical features of genetic disease. NPJ Genom Med. 2021 Nov 22; 6(1):98. PMID: 34811359; PMCID: PMC8609026.
    11. Marshall CR, Chowdhury S, Taft RJ, Lebo MS, Buchan JG, Harrison SM, Rowsey R, Klee EW, Liu P, Worthey EA, Jobanputra V, Dimmock D, Kearney HM, Bick D, Kulkarni S, Taylor SL, Belmont JW, Stavropoulos DJ, Lennon NJ, Medical Genome Initiative. Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease. NPJ Genom Med. 2020; 5:47. PMID: 33110627; PMCID: PMC7585436.
      Citations: 18     
    12. Richard MA, Brown AL, Belmont JW, Scheurer ME, Arroyo VM, Foster KL, Kern KD, Hudson MM, Leisenring WM, Okcu MF, Sapkota Y, Yasui Y, Morton LM, Chanock SJ, Robison LL, Armstrong GT, Bhatia S, Oeffinger KC, Lupo PJ, Kamdar KY. Genetic variation in the body mass index of adult survivors of childhood acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study and the St. Jude Lifetime Cohort. Cancer. 2021 01 15; 127(2):310-318. PMID: 33048379; PMCID: PMC7790879.
      Citations: 2     Fields:    Translation:HumansCells
    13. Marshall CR, Bick D, Belmont JW, Taylor SL, Ashley E, Dimmock D, Jobanputra V, Kearney HM, Kulkarni S, Rehm H, Medical Genome Initiative. The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic. Genome Med. 2020 05 27; 12(1):48. PMID: 32460895; PMCID: PMC7254704.
      Citations: 13     Fields:    Translation:Humans
    14. 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
    15. Schulze KV, Swaminathan S, Howell S, Jajoo A, Lie NC, Brown O, Sadat R, Hall N, Zhao L, Marshall K, May T, Reid ME, Taylor-Bryan C, Wang X, Belmont JW, Guan Y, Manary MJ, Trehan I, McKenzie CA, Hanchard NA. Edematous severe acute malnutrition is characterized by hypomethylation of DNA. Nat Commun. 2019 12 19; 10(1):5791. PMID: 31857576; PMCID: PMC6923441.
      Citations: 7     Fields:    Translation:HumansCells
    16. Gonzaludo N, Belmont JW, Gainullin VG, Taft RJ. Correction: Estimating the burden and economic impact of pediatric genetic disease. Genet Med. 2019 Sep; 21(9):2161. PMID: 30760893; PMCID: PMC7608339.
      Citations:    Fields:    
    17. Bick D, Jones M, Taylor SL, Taft RJ, Belmont J. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet. 2019 12; 56(12):783-791. PMID: 31023718; PMCID: PMC6929710.
      Citations: 24     Fields:    Translation:Humans
    18. 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
    19. Schulze KV, Bhatt A, Azamian MS, Sundgren NC, Zapata GE, Hernandez P, Fox K, Kaiser JR, Belmont JW, Hanchard NA. Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy. Genet Med. 2019 11; 21(11):2453-2461. PMID: 30992551.
      Citations: 4     Fields:    Translation:HumansCells
    20. Boycott KM, Hartley T, Biesecker LG, Gibbs RA, Innes AM, Belmont J, Dunwoodie SL, Jojic N, Lassmann T, Mackay D, Temple IK, Visel A, Baynam G, Riess O. A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell. 2019 03 21; 177(1):32-37. PMID: 30901545.
      Citations: 33     Fields:    Translation:Humans
    21. Scocchia A, Wigby KM, Masser-Frye D, Del Campo M, Galarreta CI, Thorpe E, McEachern J, Robinson K, Gross A, ICSL Interpretation and Reporting Team, Ajay SS, Rajan V, Perry DL, Belmont JW, Bentley DR, Jones MC, Taft RJ. Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. NPJ Genom Med. 2019; 4:5. PMID: 30792901; PMCID: PMC6375919.
      Citations: 23     
    22. 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
    23. 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
    24. Gonzaludo N, Belmont JW, Gainullin VG, Taft RJ. Estimating the burden and economic impact of pediatric genetic disease. Genet Med. 2019 08; 21(8):1781-1789. PMID: 30568310; PMCID: PMC6752475.
      Citations: 13     Fields:    Translation:Humans
    25. Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW, Undiagnosed Diseases Network, Lee BH, Bacino CA, Chao HT. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 03; 179(3):475-479. PMID: 30569621.
      Citations: 3     Fields:    Translation:Humans
    26. Lupo PJ, Brown AL, Arroyo VM, Kamdar KY, Belmont JW, Scheurer ME, Leisenring WM, Gramatges MM, Okcu MF, Yasui Y, Oeffinger KC, Robison LL, Armstrong GT, Bhatia S. DNA methylation and obesity in survivors of pediatric acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study. Genes Chromosomes Cancer. 2019 01; 58(1):52-59. PMID: 30382603; PMCID: PMC6295278.
      Citations: 4     Fields:    Translation:HumansCells
    27. Gross AM, Ajay SS, Rajan V, Brown C, Bluske K, Burns NJ, Chawla A, Coffey AJ, Malhotra A, Scocchia A, Thorpe E, Dzidic N, Hovanes K, Sahoo T, Dolzhenko E, Lajoie B, Khouzam A, Chowdhury S, Belmont J, Roller E, Ivakhno S, Tanner S, McEachern J, Hambuch T, Eberle M, Hagelstrom RT, Bentley DR, Perry DL, Taft RJ. Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease. Genet Med. 2019 05; 21(5):1121-1130. PMID: 30293986; PMCID: PMC6752263.
      Citations: 35     Fields:    Translation:Humans
    28. Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Muzny DM, Hanchard N, Belmont JW, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC, Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P, Piard J, Van Maldergem L. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 Oct; 5(10):1277-1285. PMID: 30349862; PMCID: PMC6186933.
      Citations: 28     Fields:    
    29. Blenski M, Wierenga KJ, Jhangiani SN, Akdemir ZC, Crawford D, McTiernan N, Myklebust LM, Purcarin G, McNall-Knapp R, Wadley A, Belmont JW, Kim JJ, Lupski JR, Arnesen T, St?ve SI, Stray-Pedersen A. A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. Eur J Hum Genet. 2018 09; 26(9):1294-1305. PMID: 29748569; PMCID: PMC6117304.
      Citations: 16     Fields:    Translation:HumansCells
    30. 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
    31. Li AH, Hanchard NA, Furthner D, Fernbach S, Azamian M, Nicosia A, Rosenfeld J, Muzny D, D'Alessandro LCA, Morris S, Jhangiani S, Parekh DR, Franklin WJ, Lewin M, Towbin JA, Penny DJ, Fraser CD, Martin JF, Eng C, Lupski JR, Gibbs RA, Boerwinkle E, Belmont JW. Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Med. 2017 10 31; 9(1):95. PMID: 29089047; PMCID: PMC5664429.
      Citations: 19     Fields:    Translation:Humans
    32. Peckham-Gregory EC, Chakraborty R, Scheurer ME, Belmont JW, Abhyankar H, Sengal AG, Scull BP, Eckstein O, Zinn DJ, Mayer L, Shih A, Merad M, Parsons DW, McClain KL, Lupo PJ, Allen CE. A genome-wide association study of LCH identifies a variant in SMAD6 associated with susceptibility. Blood. 2017 11 16; 130(20):2229-2232. PMID: 28935696; PMCID: PMC5691246.
      Citations: 5     Fields:    Translation:Humans
    33. 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
    34. 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
    35. 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
    36. Arrouk R, Karpinski A, Lavenbarg T, Belmont J, McCallum RW, Hyman P. Water Load Test in Children with Chronic Abdominal Pain or Obesity Compared with Nonobese Controls. South Med J. 2017 03; 110(3):168-171. PMID: 28257540.
      Citations:    Fields:    Translation:Humans
    37. 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
    38. 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
    39. 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
    40. Santos-Cortez RL, Hutchinson DS, Ajami NJ, Reyes-Quintos MR, Tantoco ML, Labra PJ, Lagrana SM, Pedro M, Llanes EG, Gloria-Cruz TL, Chan AL, Cutiongco-de la Paz EM, Belmont JW, Chonmaitree T, Abes GT, Petrosino JF, Leal SM, Chiong CM. Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene. Infect Dis Poverty. 2016 Nov 01; 5(1):97. PMID: 27799062; PMCID: PMC5088646.
      Citations: 16     Fields:    Translation:Humans
    41. 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
    42. Bekheirnia MR, Bekheirnia N, Bainbridge MN, Gu S, Coban Akdemir ZH, Gambin T, Janzen NK, Jhangiani SN, Muzny DM, Michael M, Brewer ED, Elenberg E, Kale AS, Riley AA, Swartz SJ, Scott DA, Yang Y, Srivaths PR, Wenderfer SE, Bodurtha J, Applegate CD, Velinov M, Myers A, Borovik L, Craigen WJ, Hanchard NA, Rosenfeld JA, Lewis RA, Gonzales ET, Gibbs RA, Belmont JW, Roth DR, Eng C, Braun MC, Lupski JR, Lamb DJ. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 04; 19(4):412-420. PMID: 27657687; PMCID: PMC5362362.
      Citations: 36     Fields:    Translation:Humans
    43. Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 06; 99(4):886-893. PMID: 27616478; PMCID: PMC5065643.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    44. 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:    
    45. Guthrie G, Kulkarni M, Vlaardingerbroek H, Stoll B, Ng K, Martin C, Belmont J, Hadsell D, Heird W, Newgard CB, Olutoye O, van Goudoever J, Lauridsen C, He X, Schuchman EH, Burrin D. Multi-omic profiles of hepatic metabolism in TPN-fed preterm pigs administered new generation lipid emulsions. J Lipid Res. 2016 09; 57(9):1696-711. PMID: 27474222; PMCID: PMC5003156.
      Citations: 8     Fields:    Translation:Animals
    46. Methner DN, Scherer SE, Welch K, Walkiewicz M, Eng CM, Belmont JW, Powell MC, Korchina V, Doddapaneni HV, Muzny DM, Gibbs RA, Wolf DA, Sanchez LA, Kahn R. Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. Genome Res. 2016 09; 26(9):1170-7. PMID: 27435932; PMCID: PMC5052040.
      Citations: 9     Fields:    Translation:Humans
    47. Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Abrahamsen TG, Bechensteen AG, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Karaca E, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR, Stray-Pedersen A, Sorte HS, R?dningen OK, Fevang B, Aukrust P, Tj?nnfjord GE, Nord?y I, J?rgensen SF, ?verland T, Skogen V, Franco JL, Trujillo Vargas CM, Cancrini C, Holmberg E, West C, Burstedt M, Yesil G, Flat? B. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245. PMID: 27577878; PMCID: PMC5222743.
      Citations: 99     Fields:    Translation:Humans
    48. McGuire AL, Moore Q, Majumder M, Walkiewicz M, Eng CM, Belmont JW, Nassef S, Darilek S, Rutherford K, Pereira S, Scherer SE, Sutton VR, Wolf D, Gibbs RA, Kahn R, Sanchez LA, Molecular Autopsy Consortium of Houston (MATCH). The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 09; 26(9):1165-9. PMID: 27412853; PMCID: PMC5052042.
      Citations: 4     Fields:    Translation:Humans
    49. Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084. PMID: 27171546; PMCID: PMC5557020.
      Citations: 58     Fields:    Translation:Humans
    50. Shivanna B, Maity S, Zhang S, Patel A, Jiang W, Wang L, Welty SE, Belmont J, Coarfa C, Moorthy B. Gene Expression Profiling Identifies Cell Proliferation and Inflammation as the Predominant Pathways Regulated by Aryl Hydrocarbon Receptor in Primary Human Fetal Lung Cells Exposed to Hyperoxia. Toxicol Sci. 2016 07; 152(1):155-68. PMID: 27103661; PMCID: PMC4922543.
      Citations: 11     Fields:    Translation:HumansCells
    51. 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
    52. Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E, Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570. PMID: 26942288; PMCID: PMC4800043.
      Citations: 37     Fields:    Translation:HumansCells
    53. Delaney SK, Hultner ML, Jacob HJ, Ledbetter DH, McCarthy JJ, Ball M, Beckman KB, Belmont JW, Bloss CS, Christman MF, Cosgrove A, Damiani SA, Danis T, Delledonne M, Dougherty MJ, Dudley JT, Faucett WA, Friedman JR, Haase DH, Hays TS, Heilsberg S, Huber J, Kaminsky L, Ledbetter N, Lee WH, Levin E, Libiger O, Linderman M, Love RL, Magnus DC, Martland A, McClure SL, Megill SE, Messier H, Nussbaum RL, Palaniappan L, Patay BA, Popovich BW, Quackenbush J, Savant MJ, Su MM, Terry SF, Tucker S, Wong WT, Green RC. Toward clinical genomics in everyday medicine: perspectives and recommendations. Expert Rev Mol Diagn. 2016; 16(5):521-32. PMID: 26810587; PMCID: PMC4841021.
      Citations: 22     Fields:    Translation:Humans
    54. Lopez KN, Marengo LK, Canfield MA, Belmont JW, Dickerson HA. Racial disparities in heterotaxy syndrome. Birth Defects Res A Clin Mol Teratol. 2015 Nov; 103(11):941-50. PMID: 26333177.
      Citations: 8     Fields:    Translation:Humans
    55. 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
    56. Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, Levy HP, Ormond KE, Saal HM, Spinner NB, Wilfond BS, McInerney JD. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Am J Hum Genet. 2015 Jul 02; 97(1):6-21. PMID: 26140447; PMCID: PMC4570999.
      Citations: 134     Fields:    Translation:Humans
    57. 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
    58. Kellermayer R, Nagy-Szakal D, Harris RA, Luna RA, Pitashny M, Schady D, Mir SA, Lopez ME, Gilger MA, Belmont J, Hollister EB, Versalovic J. Serial fecal microbiota transplantation alters mucosal gene expression in pediatric ulcerative colitis. Am J Gastroenterol. 2015 Apr; 110(4):604-6. PMID: 25853207; PMCID: PMC4883582.
      Citations: 29     Fields:    Translation:Humans
    59. Hanchard NA, Moulds JM, Belmont JW, Chen A. A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease. Transfus Med Hemother. 2014 Nov; 41(6):453-61. PMID: 25670933; PMCID: PMC4280456.
      Citations: 8     
    60. Lin AE, Krikov S, Riehle-Colarusso T, Belmont J, Anderka M, Geva T, Getz KD, Botto LD, National Birth Defects Prevention Study, Fr?as JL. Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology. Am J Med Genet A. 2014 Oct; 164A(10):2581-91. PMID: 25099286; PMCID: PMC4462240.
      Citations: 52     Fields:    Translation:Humans
    61. 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
    62. Sen P, Dharmadhikari AV, Majewski T, Mohammad MA, Kalin TV, Zabielska J, Ren X, Bray M, Brown HM, Welty S, Thevananther S, Langston C, Szafranski P, Justice MJ, Kalinichenko VV, Gambin A, Belmont J, Stankiewicz P. Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. PLoS One. 2014; 9(4):e94390. PMID: 24722050; PMCID: PMC3983164.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    63. Li JP, Yang CY, Chuang HC, Lan JL, Chen DY, Chen YM, Wang X, Chen AJ, Belmont JW, Tan TH. The phosphatase JKAP/DUSP22 inhibits T-cell receptor signalling and autoimmunity by inactivating Lck. Nat Commun. 2014 Apr 09; 5:3618. PMID: 24714587.
      Citations: 56     Fields:    Translation:HumansAnimalsCells
    64. Pehlivan D, Ramocki MB, Fang P, Alleva B, Franco LM, Belmont JW, Hastings PJ, Lupski JR, Carvalho CM. Replicative mechanisms for CNV formation are error prone. Nat Genet. 2013 Nov; 45(11):1319-26. PMID: 24056715; PMCID: PMC3821386.
      Citations: 81     Fields:    Translation:HumansCells
    65. Rosenberg NA, Pemberton TJ, Li JZ, Belmont JW. Runs of homozygosity and parental relatedness. Genet Med. 2013 Sep; 15(9):753-4. PMID: 24008258.
      Citations: 3     Fields:    Translation:Humans
    66. 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
    67. 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
    68. 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
    69. Brautbar A, Barbalic M, Chen F, Belmont J, Virani SS, Scherer S, Hegele RA, Ballantyne CM. Rare APOA5 promoter variants associated with paradoxical HDL cholesterol decrease in response to fenofibric acid therapy. J Lipid Res. 2013 Jul; 54(7):1980-7. PMID: 23633496; PMCID: PMC3679399.
      Citations: 4     Fields:    Translation:HumansCells
    70. 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
    71. Couch RB, Atmar RL, Franco LM, Quarles JM, Wells J, Arden N, Belmont JW, Ni?o D. Antibody correlates and predictors of immunity to naturally occurring influenza in humans and the importance of antibody to the neuraminidase. J Infect Dis. 2013 Mar 15; 207(6):974-81. PMID: 23307936; PMCID: PMC3633450.
      Citations: 122     Fields:    Translation:HumansCells
    72. Zhu L, Hu L, Slesnick TC, Pautler RG, Justice MJ, Belmont JW, Jiang Z. Zic3 is required in the extra-cardiac perinodal region of the lateral plate mesoderm for left-right patterning and heart development. Hum Mol Genet. 2013 Mar 01; 22(5):879-89. PMID: 23184148; PMCID: PMC3606008.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    73. Lee LJ, Canfield MA, Hashmi SS, Moffitt KB, Marengo L, Agopian AJ, Belmont JW, Freedenberg D, Tanksley SM, Mitchell LE, Lupo PJ. Association between thyroxine levels at birth and choanal atresia or stenosis among infants in Texas, 2004-2007. Birth Defects Res A Clin Mol Teratol. 2012 Nov; 94(11):951-4. PMID: 23125093.
      Citations: 4     Fields:    Translation:HumansPHPublic Health
    74. Hashmi SS, Canfield MA, Marengo L, Moffitt KB, Belmont JW, Freedenberg D, Tanksley SM, Lupo PJ. The association between neonatal thyroxine and craniosynostosis, Texas, 2004-2007. Birth Defects Res A Clin Mol Teratol. 2012 Dec; 94(12):1004-9. PMID: 23109112.
      Citations: 4     Fields:    Translation:HumansPHPublic Health
    75. Sen P, Gerychova R, Janku P, Jezova M, Valaskova I, Navarro C, Silva I, Langston C, Welty S, Belmont J, Stankiewicz P. A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. Eur J Hum Genet. 2013 Apr; 21(4):474-7. PMID: 22990143; PMCID: PMC3598325.
      Citations: 25     Fields:    Translation:HumansCells
    76. 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
    77. Ma L, Ballantyne CM, Belmont JW, Keinan A, Brautbar A. Interaction between SNPs in the RXRA and near ANGPTL3 gene region inhibits apoB reduction after statin-fenofibric acid therapy in individuals with mixed dyslipidemia. J Lipid Res. 2012 Nov; 53(11):2425-8. PMID: 22896670; PMCID: PMC3466010.
      Citations: 10     Fields:    Translation:Humans
    78. Grover M, Brunetti-Pierri N, Belmont J, Phan K, Tran A, Shypailo RJ, Ellis KJ, Lee BH. Assessment of bone mineral status in children with Marfan syndrome. Am J Med Genet A. 2012 Sep; 158A(9):2221-4. PMID: 22887731; PMCID: PMC3429634.
      Citations: 10     Fields:    Translation:Humans
    79. Zhian S, Belmont J, Maslen CL. Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome. Am J Med Genet A. 2012 Aug; 158A(8):2047-9. PMID: 22740159; PMCID: PMC3402694.
      Citations: 7     Fields:    Translation:Humans
    80. French VM, van de Laar IM, Wessels MW, Rohe C, Roos-Hesselink JW, Wang G, Frohn-Mulder IM, Severijnen LA, de Graaf BM, Schot R, Breedveld G, Mientjes E, van Tienhoven M, Jadot E, Jiang Z, Verkerk A, Swagemakers S, Venselaar H, Rahimi Z, Najmabadi H, Meijers-Heijboer H, de Graaff E, Helbing WA, Willemsen R, Devriendt K, Belmont JW, Oostra BA, Amack JD, Bertoli-Avella AM. NPHP4 variants are associated with pleiotropic heart malformations. Circ Res. 2012 Jun 08; 110(12):1564-74. PMID: 22550138; PMCID: PMC3916111.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    81. Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, Bi W, Lupski JR, Belmont J, Cheung SW, Stankiewicz P. Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55. PMID: 22543972; PMCID: PMC3392111.
      Citations: 10     Fields:    Translation:HumansCells
    82. Brautbar A, Virani SS, Belmont J, Nambi V, Jones PH, Ballantyne CM. LPL gene variants affect apoC-III response to combination therapy of statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia. J Lipid Res. 2012 Mar; 53(3):556-560. PMID: 22236405; PMCID: PMC3276479.
      Citations: 8     Fields:    Translation:Humans
    83. Couch RB, Atmar RL, Franco LM, Quarles JM, Wells JM, Arden N, Cheung S, Belmont JW, Ni?o D. Prior infections with seasonal influenza A/H1N1 virus reduced the illness severity and epidemic intensity of pandemic H1N1 influenza in healthy adults. Clin Infect Dis. 2012 Feb 01; 54(3):311-7. PMID: 22075792; PMCID: PMC3258274.
      Citations: 16     Fields:    Translation:HumansCellsPHPublic Health
    84. Martinez HR, Pignatelli R, Belmont JW, Craigen WJ, Jefferies JL. Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy. Am J Med Genet A. 2011 Dec; 155A(12):3025-9. PMID: 22052614.
      Citations: 4     Fields:    Translation:Humans
    85. Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet. 2011 Oct 02; 43(11):1074-81. PMID: 21964572; PMCID: PMC3235474.
      Citations: 100     Fields:    Translation:HumansCells
    86. Lupski JR, Belmont JW, Boerwinkle E, Gibbs RA. Clan genomics and the complex architecture of human disease. Cell. 2011 Sep 30; 147(1):32-43. PMID: 21962505; PMCID: PMC3656718.
      Citations: 192     Fields:    Translation:Humans
    87. 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
    88. LeMaire SA, McDonald ML, Guo DC, Russell L, Miller CC, Johnson RJ, Bekheirnia MR, Franco LM, Nguyen M, Pyeritz RE, Bavaria JE, Devereux R, Maslen C, Holmes KW, Eagle K, Body SC, Seidman C, Seidman JG, Isselbacher EM, Bray M, Coselli JS, Estrera AL, Safi HJ, Belmont JW, Leal SM, Milewicz DM. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet. 2011 Sep 11; 43(10):996-1000. PMID: 21909107; PMCID: PMC3244938.
      Citations: 78     Fields:    Translation:HumansCells
    89. Brautbar A, Covarrubias D, Belmont J, Lara-Garduno F, Virani SS, Jones PH, Leal SM, Ballantyne CM. Variants in the APOA5 gene region and the response to combination therapy with statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia. Atherosclerosis. 2011 Dec; 219(2):737-42. PMID: 21889769; PMCID: PMC6174528.
      Citations: 25     Fields:    Translation:HumansCTClinical Trials
    90. Blinder JJ, Martinez HR, Craigen WJ, Belmont J, Pignatelli RH, Jefferies JL. Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion. Am J Med Genet A. 2011 Sep; 155A(9):2215-20. PMID: 21834050.
      Citations: 9     Fields:    Translation:HumansCells
    91. Kuang SQ, Guo DC, Prakash SK, McDonald ML, Johnson RJ, Wang M, Regalado ES, Russell L, Cao JM, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, LeMaire SA, Belmont JW, Milewicz DM, GenTAC Investigators. Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet. 2011 Jun; 7(6):e1002118. PMID: 21698135; PMCID: PMC3116911.
      Citations: 50     Fields:    Translation:HumansCells
    92. Ramocki MB, Scaglia F, Stankiewicz P, Belmont JW, Jones JY, Clark GD. Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2. Am J Med Genet A. 2011 Jul; 155A(7):1574-80. PMID: 21638761; PMCID: PMC3121908.
      Citations: 8     Fields:    Translation:Humans
    93. Marian AJ, Belmont J. Strategic approaches to unraveling genetic causes of cardiovascular diseases. Circ Res. 2011 May 13; 108(10):1252-69. PMID: 21566222; PMCID: PMC3115927.
      Citations: 38     Fields:    Translation:HumansAnimals
    94. Martinez HR, Belmont JW, Craigen WJ, Taylor MD, Jefferies JL. Left ventricular noncompaction in Sotos syndrome. Am J Med Genet A. 2011 May; 155A(5):1115-8. PMID: 21484993.
      Citations: 10     Fields:    Translation:Humans
    95. 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
    96. Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88. PMID: 21355048; PMCID: PMC3080608.
      Citations: 36     Fields:    Translation:HumansCells
    97. Belmont JW, Craigen W, Martinez H, Jefferies JL. Genetic disorders with both hearing loss and cardiovascular abnormalities. Adv Otorhinolaryngol. 2011; 70:66-74. PMID: 21358187.
      Citations: 2     Fields:    Translation:HumansCells
    98. Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin JA, Belmont JW, Craigen WJ, Wong LJ, Jefferies JL, Scaglia F. Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab. 2011 Jun; 103(2):167-70. PMID: 21406331.
      Citations: 13     Fields:    Translation:Humans
    99. McBride KL, Zender GA, Fitzgerald-Butt SM, Seagraves NJ, Fernbach SD, Zapata G, Lewin M, Towbin JA, Belmont JW. Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects. Birth Defects Res A Clin Mol Teratol. 2011 Mar; 91(3):162-8. PMID: 21290564; PMCID: PMC3736588.
      Citations: 23     Fields:    Translation:Humans
    100. Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci U S A. 2011 Feb 15; 108(7):2915-20. PMID: 21282601; PMCID: PMC3041108.
      Citations: 127     Fields:    Translation:HumansAnimals
    101. Davis AM, James RL, Boles RE, Goetz JR, Belmont J, Malone B. The use of TeleMedicine in the treatment of paediatric obesity: feasibility and acceptability. Matern Child Nutr. 2011 Jan; 7(1):71-9. PMID: 21108739; PMCID: PMC3071528.
      Citations: 17     Fields:    Translation:Humans
    102. Fruhman G, El-Hattab AW, Belmont JW, Patel A, Cheung SW, Sutton VR. Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH. Am J Med Genet A. 2011 Feb; 155A(2):434-8. PMID: 21271668.
      Citations: 2     Fields:    Translation:HumansCells
    103. Davis EE, Becker-Heck A, Legendre M, Amirav I, Belmont J, Beydon N, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Katsanis N, Omran H, Amselem S, Merveille AC, Bataille G, Billen F, Cl?ment A, Clercx C, Coste A, Papon JF, Lequarr? AS. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet. 2011 Jan; 43(1):72-8. PMID: 21131972; PMCID: PMC3509786.
      Citations: 151     Fields:    Translation:HumansAnimalsCells
    104. Prakash SK, LeMaire SA, Guo DC, Russell L, Regalado ES, Golabbakhsh H, Johnson RJ, Safi HJ, Estrera AL, Coselli JS, Bray MS, Leal SM, Milewicz DM, Belmont JW. Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. Am J Hum Genet. 2010 Dec 10; 87(6):743-56. PMID: 21092924; PMCID: PMC2997376.
      Citations: 46     Fields:    Translation:Humans
    105. Prakash S, LeMaire SA, Bray M, Milewicz DM, Belmont JW. Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections. Am J Med Genet A. 2010 Sep; 152A(9):2399-405. PMID: 20683997; PMCID: PMC5724369.
      Citations: 2     Fields:    Translation:HumansCells
    106. Brautbar A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM, Belmont JW. FBN1 mutations in patients with descending thoracic aortic dissections. Am J Med Genet A. 2010 Feb; 152A(2):413-6. PMID: 20082464; PMCID: PMC3593235.
      Citations: 10     Fields:    Translation:Humans
    107. Jefferies JL, Taylor MD, Rossano J, Belmont JW, Craigen WJ. Novel cardiac findings in periventricular nodular heterotopia. Am J Med Genet A. 2010 Jan; 152A(1):165-8. PMID: 20014127.
      Citations: 7     Fields:    Translation:HumansCells
    108. Bucasas KL, Pandya GA, Pradhan S, Fleischmann RD, Peterson SN, Belmont JW. Assessing the utility of whole-genome amplified serum DNA for array-based high throughput genotyping. BMC Genet. 2009 Dec 18; 10:85. PMID: 20021669; PMCID: PMC2803178.
      Citations: 3     Fields:    Translation:Humans
    109. Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41. PMID: 19914906; PMCID: PMC3158566.
      Citations: 213     Fields:    Translation:HumansCells
    110. Tweardy DJ, Belmont JW. "Personalizing" academic medicine: opportunities and challenges in implementing genomic profiling. Transl Res. 2009 Dec; 154(6):288-94. PMID: 19931194; PMCID: PMC2830892.
      Citations: 4     Fields:    Translation:Humans
    111. Jefferies JL, Belmont JW, Pignatelli R, Towbin JA, Craigen WJ. PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome. Pediatr Cardiol. 2010 Jan; 31(1):114-6. PMID: 19795160.
      Citations: 1     Fields:    Translation:Humans
    112. Nassir R, Kosoy R, Tian C, White PA, Butler LM, Silva G, Kittles R, Alarcon-Riquelme ME, Gregersen PK, Belmont JW, De La Vega FM, Seldin MF. An ancestry informative marker set for determining continental origin: validation and extension using human genome diversity panels. BMC Genet. 2009 Jul 24; 10:39. PMID: 19630973; PMCID: PMC2728728.
      Citations: 75     Fields:    Translation:Humans
    113. Roessler E, Pei W, Ouspenskaia MV, Karkera JD, Banerjee-Basu S, Gibney G, Lupo PJ, Mitchell LE, Towbin JA, Bowers P, Belmont JW, Goldmuntz E, Baxevanis AD, Feldman B, Muenke M, Vel?z JI. Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab. 2009 Sep-Oct; 98(1-2):225-34. PMID: 19553149; PMCID: PMC2774839.
      Citations: 29     Fields:    Translation:HumansCells
    114. Belmont J, McGuire AL. The futility of genomic counseling: essential role of electronic health records. Genome Med. 2009 May 08; 1(5):48. PMID: 19439060; PMCID: PMC2689440.
      Citations: 14     Fields:    
    115. Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G, Debray FG. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet. 2009 Oct; 17(10):1325-35. PMID: 19367324; PMCID: PMC2826145.
      Citations: 35     Fields:    Translation:HumansAnimals
    116. McBride KL, Zender GA, Fitzgerald-Butt SM, Koehler D, Menesses-Diaz A, Fernbach S, Lee K, Towbin JA, Leal S, Belmont JW. Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). Eur J Hum Genet. 2009 Jun; 17(6):811-9. PMID: 19142209; PMCID: PMC2916734.
      Citations: 30     Fields:    Translation:Humans
    117. Jefferies JL, Kim JJ, Belmont JW, Friedman RA. The Twiddling Andersen. Tex Heart Inst J. 2009; 36(4):349-51. PMID: 19693314; PMCID: PMC2720289.
      Citations: 2     Fields:    Translation:Humans
    118. Kosoy R, Nassir R, Tian C, White PA, Butler LM, Silva G, Kittles R, Alarcon-Riquelme ME, Gregersen PK, Belmont JW, De La Vega FM, Seldin MF. Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America. Hum Mutat. 2009 Jan; 30(1):69-78. PMID: 18683858; PMCID: PMC3073397.
      Citations: 253     Fields:    Translation:Humans
    119. Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009 Mar 01; 18(5):861-71. PMID: 19064609; PMCID: PMC2722226.
      Citations: 58     Fields:    Translation:HumansCells
    120. Tian C, Kosoy R, Lee A, Ransom M, Belmont JW, Gregersen PK, Seldin MF. Analysis of East Asia genetic substructure using genome-wide SNP arrays. PLoS One. 2008; 3(12):e3862. PMID: 19057645; PMCID: PMC2587696.
      Citations: 49     Fields:    Translation:Humans
    121. 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
    122. McBride KL, Riley MF, Zender GA, Fitzgerald-Butt SM, Towbin JA, Belmont JW, Cole SE. NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet. 2008 Sep 15; 17(18):2886-93. PMID: 18593716; PMCID: PMC2722892.
      Citations: 74     Fields:    Translation:HumansAnimalsCells
    123. Roessler E, Ouspenskaia MV, Karkera JD, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin JA, Goldmuntz E, Feldman B, Muenke M, V?lez JI. Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet. 2008 Jul; 83(1):18-29. PMID: 18538293; PMCID: PMC2443854.
      Citations: 63     Fields:    Translation:HumansAnimalsCells
    124. 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
    125. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77. PMID: 18414210.
      Citations: 73     Fields:    Translation:HumansCells
    126. Zhu L, Zhou G, Poole S, Belmont JW. Characterization of the interactions of human ZIC3 mutants with GLI3. Hum Mutat. 2008 Jan; 29(1):99-105. PMID: 17764085.
      Citations: 15     Fields:    Translation:HumansCells
    127. 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
    128. Beaudet AL, Belmont JW. Array-based DNA diagnostics: let the revolution begin. Annu Rev Med. 2008; 59:113-29. PMID: 17961075.
      Citations: 34     Fields:    Translation:Humans
    129. Tari AM, Monaco G, Stephens C, Sun T, Rosenblum M, Belmont J, Arlinghaus R, Lopez-Berestein G, Guti?rrez-Puente Y. Liposome-incorporated Grb2 antisense oligodeoxynucleotide increases the survival of mice bearing bcr-abl-positive leukemia xenografts. Int J Oncol. 2007 Nov; 31(5):1243-50. PMID: 17912453.
      Citations: 13     Fields:    Translation:Animals
    130. International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Phillips MS, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Yakub I, Birren BW, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J, Olivier JF, Roumy S, Sall?e C, Abecasis GR, L'Archev?que P. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007 Oct 18; 449(7164):851-61. PMID: 17943122; PMCID: PMC2689609.
      Citations: 2255     Fields:    Translation:Humans
    131. Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES, International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Phillips MS, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Sham PC, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Johnson TA, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Yakub I, Birren BW, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J, Olivier JF, Roumy S, Sall?e C, Abecasis GR, L'Archev?que P. Genome-wide detection and characterization of positive selection in human populations. Nature. 2007 Oct 18; 449(7164):913-8. PMID: 17943131; PMCID: PMC2687721.
      Citations: 898     Fields:    Translation:HumansCells
    132. Kellermayer R, Kitagawa S, Redel CA, Cass DL, Belmont JW, Klish W. Upper gastrointestinal malformations in Coffin-Siris syndrome. Am J Med Genet A. 2007 Jul 01; 143A(13):1519-21. PMID: 17523151.
      Citations: 2     Fields:    Translation:Humans
    133. Tian C, Hinds DA, Shigeta R, Adler SG, Lee A, Pahl MV, Silva G, Belmont JW, Hanson RL, Knowler WC, Gregersen PK, Ballinger DG, Seldin MF. A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping. Am J Hum Genet. 2007 Jun; 80(6):1014-23. PMID: 17557415; PMCID: PMC1867091.
      Citations: 93     Fields:    Translation:HumansCells
    134. Zhu L, Harutyunyan KG, Peng JL, Wang J, Schwartz RJ, Belmont JW. Identification of a novel role of ZIC3 in regulating cardiac development. Hum Mol Genet. 2007 Jul 15; 16(14):1649-60. PMID: 17468179.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    135. Zhu L, Peng JL, Harutyunyan KG, Garcia MD, Justice MJ, Belmont JW. Craniofacial, skeletal, and cardiac defects associated with altered embryonic murine Zic3 expression following targeted insertion of a PGK-NEO cassette. Front Biosci. 2007 Jan 01; 12:1680-90. PMID: 17127413.
      Citations: 6     Fields:    Translation:AnimalsCells
    136. Rosenberg NA, Mahajan S, Gonzalez-Quevedo C, Blum MG, Nino-Rosales L, Ninis V, Das P, Hegde M, Molinari L, Zapata G, Weber JL, Belmont JW, Patel PI. Low levels of genetic divergence across geographically and linguistically diverse populations from India. PLoS Genet. 2006 Dec; 2(12):e215. PMID: 17194221; PMCID: PMC1713257.
      Citations: 50     Fields:    Translation:HumansCells
    137. Peeters H, Voz ML, Verschueren K, De Cat B, Thienpont B, Schellens A, Belmont JW, David G, Van De Ven WJ, Fryns JP, Gewillig M, Huylebroeck D, Peers B, Devriendt K, Pendeville H. Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling. Hum Mol Genet. 2006 Nov 15; 15(22):3369-77. PMID: 17038485.
      Citations: 5     Fields:    Translation:AnimalsCells
    138. McBride KL, Belmont JW, O'Brien WE, Amin TJ, Carter S, Lee BH. Heritability of plasma amino acid levels in different nutritional states. Mol Genet Metab. 2007 Feb; 90(2):217-20. PMID: 17005426.
      Citations: 6     Fields:    Translation:Humans
    139. 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
    140. Seldin MF, Shigeta R, Villoslada P, Selmi C, Tuomilehto J, Silva G, Belmont JW, Klareskog L, Gregersen PK. European population substructure: clustering of northern and southern populations. PLoS Genet. 2006 Sep 15; 2(9):e143. PMID: 17044734; PMCID: PMC1564423.
      Citations: 120     Fields:    Translation:Humans
    141. Ware SM, Harutyunyan KG, Belmont JW. Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway. Dev Dyn. 2006 Jun; 235(6):1631-7. PMID: 16496285.
      Citations: 28     Fields:    Translation:AnimalsCells
    142. Ware SM, Harutyunyan KG, Belmont JW. Zic3 is critical for early embryonic patterning during gastrulation. Dev Dyn. 2006 Mar; 235(3):776-85. PMID: 16397896.
      Citations: 24     Fields:    Translation:Animals
    143. Zhu L, Belmont JW, Ware SM. Genetics of human heterotaxias. Eur J Hum Genet. 2006 Jan; 14(1):17-25. PMID: 16251896.
      Citations: 48     Fields:    Translation:Humans
    144. 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
    145. Jefferies JL, Eidem BW, Belmont JW, Craigen WJ, Ware SM, Fernbach SD, Neish SR, Smith EO, Towbin JA. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation. 2005 Nov 01; 112(18):2799-804. PMID: 16246949.
      Citations: 97     Fields:    Translation:Humans
    146. Yakub I, Lillibridge KM, Moran A, Gonzalez OY, Belmont J, Gibbs RA, Tweardy DJ. Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection. J Infect Dis. 2005 Nov 15; 192(10):1741-8. PMID: 16235172.
      Citations: 53     Fields:    Translation:HumansCells
    147. Yu F, Sabeti PC, Hardenbol P, Fu Q, Fry B, Lu X, Ghose S, Vega R, Perez A, Pasternak S, Leal SM, Willis TD, Nelson DL, Belmont J, Gibbs RA. Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005 Sep; 1(3):e41. PMID: 16205789; PMCID: PMC1239938.
      Citations: 21     Fields:    Translation:HumansCells
    148. Yang N, Li H, Criswell LA, Gregersen PK, Alarcon-Riquelme ME, Kittles R, Shigeta R, Silva G, Patel PI, Belmont JW, Seldin MF. Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine. Hum Genet. 2005 Dec; 118(3-4):382-92. PMID: 16193326.
      Citations: 71     Fields:    Translation:Humans
    149. McBride KL, Marengo L, Canfield M, Langlois P, Fixler D, Belmont JW. Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001. Birth Defects Res A Clin Mol Teratol. 2005 Aug; 73(8):555-61. PMID: 16007587; PMCID: PMC1361303.
      Citations: 28     Fields:    Translation:Humans
    150. Lin H, Monaco G, Sun T, Ling X, Stephens C, Xie S, Belmont J, Arlinghaus R. Bcr-Abl-mediated suppression of normal hematopoiesis in leukemia. Oncogene. 2005 May 05; 24(20):3246-56. PMID: 15735695.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    151. Belmont JW, Leal SM. Complex phenotypes and complex genetics: an introduction to genetic studies of complex traits. Curr Atheroscler Rep. 2005 May; 7(3):180-7. PMID: 15811251.
      Citations: 3     Fields:    Translation:Humans
    152. McBride KL, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A, Lam W, Leal SM, Kaplan N, Schliekelman P, Towbin JA, Belmont JW. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. Am J Med Genet A. 2005 Apr 15; 134A(2):180-6. PMID: 15690347; PMCID: PMC1361302.
      Citations: 71     Fields:    Translation:Humans
    153. 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
    154. Hardenbol P, Yu F, Belmont J, Mackenzie J, Bruckner C, Brundage T, Boudreau A, Chow S, Eberle J, Erbilgin A, Falkowski M, Fitzgerald R, Ghose S, Iartchouk O, Jain M, Karlin-Neumann G, Lu X, Miao X, Moore B, Moorhead M, Namsaraev E, Pasternak S, Prakash E, Tran K, Wang Z, Jones HB, Davis RW, Willis TD, Gibbs RA. Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay. Genome Res. 2005 Feb; 15(2):269-75. PMID: 15687290; PMCID: PMC546528.
      Citations: 121     Fields:    Translation:Humans
    155. Lin AE, Salbert BA, Belmont J, Smoot L. Total is more than the sum of the parts: phenotyping the heart in cardiovascular genetics clinics. Am J Med Genet A. 2004 Dec 01; 131(2):111-4. PMID: 15487010.
      Citations: 4     Fields:    Translation:Humans
    156. Konopleva M, Tsao T, Estrov Z, Lee RM, Wang RY, Jackson CE, McQueen T, Monaco G, Munsell M, Belmont J, Kantarjian H, Sporn MB, Andreeff M. The synthetic triterpenoid 2-cyano-3,12-dioxooleana-1,9-dien-28-oic acid induces caspase-dependent and -independent apoptosis in acute myelogenous leukemia. Cancer Res. 2004 Nov 01; 64(21):7927-35. PMID: 15520199.
      Citations: 55     Fields:    Translation:HumansCells
    157. McBride KL, Fernbach S, Menesses A, Molinari L, Quay E, Pignatelli R, Towbin JA, Belmont JW. A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase. Birth Defects Res A Clin Mol Teratol. 2004 Oct; 70(10):825-30. PMID: 15390319.
      Citations: 12     Fields:    Translation:Humans
    158. Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004 Oct; 114(4):925-31. PMID: 15466086.
      Citations: 115     Fields:    Translation:HumansCells
    159. Monaco G, Belmont JW, Konopleva M, Andreeff M, Tavor S, Petit I, Kollet O, Lapidot T. Correlation between CXCR4 and homing or engraftment of acute myelogenous leukemia. Cancer Res. 2004 Sep 15; 64(18):6832 author reply 6832-3. PMID: 15375005.
      Citations: 8     Fields:    Translation:HumansAnimals
    160. Lewin MB, McBride KL, Pignatelli R, Fernbach S, Combes A, Menesses A, Lam W, Bezold LI, Kaplan N, Towbin JA, Belmont JW. Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions. Pediatrics. 2004 Sep; 114(3):691-6. PMID: 15342840; PMCID: PMC1361301.
      Citations: 32     Fields:    Translation:Humans
    161. Belmont JW, Mohapatra B, Towbin JA, Ware SM. Molecular genetics of heterotaxy syndromes. Curr Opin Cardiol. 2004 May; 19(3):216-20. PMID: 15096953.
      Citations: 29     Fields:    Translation:HumansAnimals
    162. Belmont JW, Gibbs RA. Genome-wide linkage disequilibrium and haplotype maps. Am J Pharmacogenomics. 2004; 4(4):253-62. PMID: 15287819.
      Citations: 5     Fields:    Translation:HumansAnimals
    163. Monaco G, Konopleva M, Munsell M, Leysath C, Wang RY, Jackson CE, Korbling M, Estey E, Belmont J, Andreeff M. Engraftment of acute myeloid leukemia in NOD/SCID mice is independent of CXCR4 and predicts poor patient survival. Stem Cells. 2004; 22(2):188-201. PMID: 14990858.
      Citations: 24     Fields:    Translation:HumansAnimals
    164. Poulsen L, Plunkett K, Belmont J, Horn N, M?ller LB, T?mer Z. X-linked Menkes disease: first documented report of germ-line mosaicism. Genet Test. 2004; 8(3):286-91. PMID: 15727253.
      Citations: 1     Fields:    Translation:HumansCells
    165. Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet. 2004 Jan; 74(1):93-105. PMID: 14681828; PMCID: PMC1181916.
      Citations: 97     Fields:    Translation:HumansAnimalsCells
    166. Collins-Schramm HE, Chima B, Morii T, Wah K, Figueroa Y, Criswell LA, Hanson RL, Knowler WC, Silva G, Belmont JW, Seldin MF. Mexican American ancestry-informative markers: examination of population structure and marker characteristics in European Americans, Mexican Americans, Amerindians and Asians. Hum Genet. 2004 Feb; 114(3):263-71. PMID: 14628215.
      Citations: 61     Fields:    Translation:Humans
    167. Pignatelli RH, McMahon CJ, Dreyer WJ, Denfield SW, Price J, Belmont JW, Craigen WJ, Wu J, El Said H, Bezold LI, Clunie S, Fernbach S, Bowles NE, Towbin JA. Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation. 2003 Nov 25; 108(21):2672-8. PMID: 14623814.
      Citations: 167     Fields:    Translation:Humans
    168. Belmont JM, Mattioli LF. Accuracy of analog telephonic stethoscopy for pediatric telecardiology. Pediatrics. 2003 Oct; 112(4):780-6. PMID: 14523166.
      Citations: 9     Fields:    Translation:Humans
    169. Raghuveer G, Caldarone CA, Hills CB, Atkins DL, Belmont JM, Moller JH. Predictors of prosthesis survival, growth, and functional status following mechanical mitral valve replacement in children aged <5 years, a multi-institutional study. Circulation. 2003 Sep 09; 108 Suppl 1:II174-9. PMID: 12970228.
      Citations: 14     Fields:    Translation:HumansCTClinical Trials
    170. Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR. Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol. 2003 Sep; 54(3):398-402. PMID: 12953275.
      Citations: 5     Fields:    Translation:HumansCells
    171. 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
    172. Chen AJ, Zhou G, Juan T, Colicos SM, Cannon JP, Cabriera-Hansen M, Meyer CF, Jurecic R, Copeland NG, Gilbert DJ, Jenkins NA, Fletcher F, Tan TH, Belmont JW. The dual specificity JKAP specifically activates the c-Jun N-terminal kinase pathway. J Biol Chem. 2002 Sep 27; 277(39):36592-601. PMID: 12138158.
      Citations: 48     Fields:    Translation:HumansAnimalsCells
    173. Martin DM, Probst FJ, Fox SE, Schimmenti LA, Semina EV, Hefner MA, Belmont JW, Camper SA. Exclusion of PITX2 mutations as a major cause of CHARGE association. Am J Med Genet. 2002 Jul 22; 111(1):27-30. PMID: 12124729.
      Citations: 7     Fields:    Translation:Humans
    174. Purandare SM, Ware SM, Kwan KM, Gebbia M, Bassi MT, Deng JM, Vogel H, Behringer RR, Belmont JW, Casey B. A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. Development. 2002 May; 129(9):2293-302. PMID: 11959836.
      Citations: 55     Fields:    Translation:HumansAnimalsCells
    175. Belmont JW, Reid B, Taylor W, Baker SS, Moore WH, Morriss MC, Podrebarac SM, Glass N, Schwartz ID. Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. BMC Pediatr. 2002 Apr 25; 2:4. PMID: 12014995; PMCID: PMC111192.
      Citations: 6     Fields:    Translation:Humans
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