Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
全外显子组测序可识别出患有先天性肾脏和泌尿系统畸形家族的致病突变
期刊:Journal of the American Society of Nephrology
影响因子:9.4
doi:10.1681/ASN.2017121265
van der Ven, Amelie T; Connaughton, Dervla M; Ityel, Hadas; Mann, Nina; Nakayama, Makiko; Chen, Jing; Vivante, Asaf; Hwang, Daw-Yang; Schulz, Julian; Braun, Daniela A; Schmidt, Johanna Magdalena; Schapiro, David; Schneider, Ronen; Warejko, Jillian K; Daga, Ankana; Majmundar, Amar J; Tan, Weizhen; Jobst-Schwan, Tilman; Hermle, Tobias; Widmeier, Eugen; Ashraf, Shazia; Amar, Ali; Hoogstraaten, Charlotte A; Hugo, Hannah; Kitzler, Thomas M; Kause, Franziska; Kolvenbach, Caroline M; Dai, Rufeng; Spaneas, Leslie; Amann, Kassaundra; Stein, Deborah R; Baum, Michelle A; Somers, Michael J G; Rodig, Nancy M; Ferguson, Michael A; Traum, Avram Z; Daouk, Ghaleb H; Bogdanović, Radovan; Stajić, Natasa; Soliman, Neveen A; Kari, Jameela A; El Desoky, Sherif; Fathy, Hanan M; Milosevic, Danko; Al-Saffar, Muna; Awad, Hazem S; Eid, Loai A; Selvin, Aravind; Senguttuvan, Prabha; Sanna-Cherchi, Simone; Rehm, Heidi L; MacArthur, Daniel G; Lek, Monkol; Laricchia, Kristen M; Wilson, Michael W; Mane, Shrikant M; Lifton, Richard P; Lee, Richard S; Bauer, Stuart B; Lu, Weining; Reutter, Heiko M; Tasic, Velibor; Shril, Shirlee; Hildebrandt, Friedhelm