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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 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.
Microtomographic analysis of lower urinary tract obstruction.
Siebert JR, Smith KJ, Cox LL, Glass IA, Cox TC. Siebert JR, et al. Among authors: cox tc, cox ll. Pediatr Dev Pathol. 2013 Nov-Dec;16(6):405-14. doi: 10.2350/13-08-1359-OA.1. Epub 2013 Aug 26. Pediatr Dev Pathol. 2013. PMID: 23977847 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 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.
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. 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.
22 results