Article
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.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2017
Bekheirnia Mir Reza, Bekheirnia Nasim, Bainbridge Matthew N, Gu Shen, Coban Akdemir Zeynep Hande, Gambin Tomek, Janzen Nicolette K, Jhangiani Shalini N, Muzny Donna M, Michael Mini, Brewer Eileen D, Elenberg Ewa, Kale Arundhati S, Riley Alyssa A, Swartz Sarah J, Scott Daryl A, Yang Yaping, Srivaths Poyyapakkam R, Wenderfer Scott E, Bodurtha Joann, Applegate Carolyn D, Velinov Milen, Myers Angela, Borovik Lior, Craigen William J, Hanchard Neil A, Rosenfeld Jill A, Lewis Richard Alan, Gonzales Edmond T, Gibbs Richard A, Belmont John W, Roth David R, Eng Christine, Braun Michael C, Lupski James R, Lamb Dolores J
Abstract excerpt
PURPOSE: To investigate the utility of whole-exome sequencing (WES) to define a molecular diagnosis for patients clinically diagnosed with congenital anomalies of kidney and urinary tract (CAKUT). METHODS: WES was performed in 62 families with CAKUT. WES data were analyzed for single-nucleotide variants (SNVs) in 35 known CAKUT genes, putatively deleterious sequence changes in new candidate genes, and potentially...
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