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
全外显子组测序在先天性肾脏和泌尿系统畸形患者的分子诊断以及新致病基因的鉴定中的应用
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/gim.2016.131
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