Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
全外显子组测序结合无偏功能分析揭示了新的先天性巨结肠基因
期刊:Genome Biology
影响因子:9.4
doi:10.1186/s13059-017-1174-6
Gui, Hongsheng; Schriemer, Duco; Cheng, William W; Chauhan, Rajendra K; Antiňolo, Guillermo; Berrios, Courtney; Bleda, Marta; Brooks, Alice S; Brouwer, Rutger W W; Burns, Alan J; Cherny, Stacey S; Dopazo, Joaquin; Eggen, Bart J L; Griseri, Paola; Jalloh, Binta; Le, Thuy-Linh; Lui, Vincent C H; Luzón-Toro, Berta; Matera, Ivana; Ngan, Elly S W; Pelet, Anna; Ruiz-Ferrer, Macarena; Sham, Pak C; Shepherd, Iain T; So, Man-Ting; Sribudiani, Yunia; Tang, Clara S M; van den Hout, Mirjam C G N; van der Linde, Herma C; van Ham, Tjakko J; van IJcken, Wilfred F J; Verheij, Joke B G M; Amiel, Jeanne; Borrego, Salud; Ceccherini, Isabella; Chakravarti, Aravinda; Lyonnet, Stanislas; Tam, Paul K H; Garcia-Barceló, Maria-Mercè; Hofstra, Robert M W