Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants
利用全外显子组评估孤立性胆道闭锁:一项来自国家出生缺陷预防研究的报告,该研究采用儿童-父母三联体和病例对照设计来识别新的罕见变异
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63185
Sok, Pagna; Sabo, Aniko; Almli, Lynn M; Jenkins, Mary M; Nembhard, Wendy N; Agopian, A J; Bamshad, Michael J; Blue, Elizabeth E; Brody, Lawrence C; Brown, Austin L; Browne, Marilyn L; Canfield, Mark A; Carmichael, Suzan L; Chong, Jessica X; Dugan-Perez, Shannon; Feldkamp, Marcia L; Finnell, Richard H; Gibbs, Richard A; Kay, Denise M; Lei, Yunping; Meng, Qingchang; Moore, Cynthia A; Mullikin, James C; Muzny, Donna; Olshan, Andrew F; Pangilinan, Faith; Reefhuis, Jennita; Romitti, Paul A; Schraw, Jeremy M; Shaw, Gary M; Werler, Martha M; Harpavat, Sanjiv; Lupo, Philip J