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Page 1
Mutations in ECEL1 cause distal arthrogryposis type 5D.
McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. McMillin MJ, et al. Among authors: hecht jt. Am J Hum Genet. 2013 Jan 10;92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20. Am J Hum Genet. 2013. PMID: 23261301 Free PMC article.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. McMillin MJ, et al. Among authors: hecht jt. Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10. Am J Hum Genet. 2014. PMID: 24726473 Free PMC article.
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
Leslie EJ, Liu H, Carlson JC, Shaffer JR, Feingold E, Wehby G, Laurie CA, Jain D, Laurie CC, Doheny KF, McHenry T, Resick J, Sanchez C, Jacobs J, Emanuele B, Vieira AR, Neiswanger K, Standley J, Czeizel AE, Deleyiannis F, Christensen K, Munger RG, Lie RT, Wilcox A, Romitti PA, Field LL, Padilla CD, Cutiongco-de la Paz EM, Lidral AC, Valencia-Ramirez LC, Lopez-Palacio AM, Valencia DR, Arcos-Burgos M, Castilla EE, Mereb JC, Poletta FA, Orioli IM, Carvalho FM, Hecht JT, Blanton SH, Buxó CJ, Butali A, Mossey PA, Adeyemo WL, James O, Braimah RO, Aregbesola BS, Eshete MA, Deribew M, Koruyucu M, Seymen F, Ma L, de Salamanca JE, Weinberg SM, Moreno L, Cornell RA, Murray JC, Marazita ML. Leslie EJ, et al. Among authors: hecht jt. Am J Hum Genet. 2016 Apr 7;98(4):744-54. doi: 10.1016/j.ajhg.2016.02.014. Epub 2016 Mar 24. Am J Hum Genet. 2016. PMID: 27018472 Free PMC article.
Genetic heterogeneity in multiple epiphyseal dysplasia.
Deere M, Blanton SH, Scott CI, Langer LO, Pauli RM, Hecht JT. Deere M, et al. Among authors: hecht jt. Am J Hum Genet. 1995 Mar;56(3):698-704. Am J Hum Genet. 1995. PMID: 7887425 Free PMC article.
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment.
Shaffer JR, Li J, Lee MK, Roosenboom J, Orlova E, Adhikari K; 23andMe Research Team; Gallo C, Poletti G, Schuler-Faccini L, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, González-José R, Pfeffer PE, Wollenschlaeger CA, Hecht JT, Wehby GL, Moreno LM, Ding A, Jin L, Yang Y, Carlson JC, Leslie EJ, Feingold E, Marazita ML, Hinds DA, Cox TC, Wang S, Ruiz-Linares A, Weinberg SM. Shaffer JR, et al. Among authors: hecht jt. Am J Hum Genet. 2017 Dec 7;101(6):913-924. doi: 10.1016/j.ajhg.2017.10.001. Epub 2017 Nov 30. Am J Hum Genet. 2017. PMID: 29198719 Free PMC article.
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
Bishop MR, Diaz Perez KK, Sun M, Ho S, Chopra P, Mukhopadhyay N, Hetmanski JB, Taub MA, Moreno-Uribe LM, Valencia-Ramirez LC, Restrepo Muñeton CP, Wehby G, Hecht JT, Deleyiannis F, Weinberg SM, Wu-Chou YH, Chen PK, Brand H, Epstein MP, Ruczinski I, Murray JC, Beaty TH, Feingold E, Lipinski RJ, Cutler DJ, Marazita ML, Leslie EJ. Bishop MR, et al. Among authors: hecht jt. Am J Hum Genet. 2020 Jul 2;107(1):124-136. doi: 10.1016/j.ajhg.2020.05.018. Epub 2020 Jun 22. Am J Hum Genet. 2020. PMID: 32574564 Free PMC article.
277 results