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Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.
Wolf ZT, Brand HA, Shaffer JR, Leslie EJ, Arzi B, Willet CE, Cox TC, McHenry T, Narayan N, Feingold E, Wang X, Sliskovic S, Karmi N, Safra N, Sanchez C, Deleyiannis FW, Murray JC, Wade CM, Marazita ML, Bannasch DL. Wolf ZT, et al. Among authors: cox tc. PLoS Genet. 2015 Mar 23;11(3):e1005059. doi: 10.1371/journal.pgen.1005059. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25798845 Free PMC article.
Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate.
Parada-Sanchez MT, Chu EY, Cox LL, Undurty SS, Standley JM, Murray JC, Cox TC. Parada-Sanchez MT, et al. Among authors: cox tc, cox ll. J Dent Res. 2017 Oct;96(11):1330-1338. doi: 10.1177/0022034517723615. Epub 2017 Aug 2. J Dent Res. 2017. PMID: 28767310 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: cox tc. 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.
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.
Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, Dorschner MO, Bedell B, Kirk E, Hing AV, Venselaar H, Valencia-Ramirez LC, Bamshad MJ, Glass IA, Cooper JA, Haan E, Nickerson DA, van Bokhoven H, Zhou H, Krahn KN, Buckley MF, Murray JC, Lidral AC, Roscioli T. Cox LL, et al. Among authors: cox tc. Am J Hum Genet. 2018 Jun 7;102(6):1143-1157. doi: 10.1016/j.ajhg.2018.04.009. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805042 Free PMC article.
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, Smith JD, Kirk EP, Venselaar H, Krahn KN, van Bokhoven H, Zhou H, Cornell RA, Glass IA, Bamshad MJ, Nickerson DA, Murray JC, Lachke SA, Thompson TB, Buckley MF, Roscioli T. Cox TC, et al. Among authors: cox ll. Hum Mutat. 2019 Oct;40(10):1813-1825. doi: 10.1002/humu.23793. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31215115 Free PMC article.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC. Strong A, et al. Among authors: cox tc, cox ll. Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751037 Free PMC article.
Full Spectrum of Postnatal Tooth Phenotypes in a Novel Irf6 Cleft Lip Model.
Chu EY, Tamasas B, Fong H, Foster BL, LaCourse MR, Tran AB, Martin JF, Schutte BC, Somerman MJ, Cox TC. Chu EY, et al. Among authors: cox tc. J Dent Res. 2016 Oct;95(11):1265-73. doi: 10.1177/0022034516656787. Epub 2016 Jul 1. J Dent Res. 2016. PMID: 27369589 Free PMC article.
236 results