Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

作者：Steve Seltzsam, Chunyan Wang, Bixia Zheng, Nina Mann, Dervla M. Connaughton, Chen‐Han Wilfred Wu, Sophia Schneider, Luca Schierbaum, Franziska Kause, Caroline M. Kolvenbach, Makiko Nakayama, Rufeng Dai, Isabel Ottlewski, Ronen Schneider, Konstantin Deutsch, Florian Buerger, Verena Klämbt, Youying Mao, Ana C. Onuchic-Whitford, Camille Nicolas‐Frank, Kirollos Yousef, Dalia Pantel, Ethan Lai, Daanya Salmanullah, Amar J. Majmundar, Stuart B. Bauer, Nancy Rodig, Michael J.G. Somers, Avram Z. Traum, Deborah R. Stein, Ankana Daga, Michelle A. Baum, Ghaleb H. Daouk, Velibor Tasić, Hazem S. Awad, Loai Eid, Sherif El Desoky, Mohammed Shalaby, Jameela A. Kari, Hanan Fathy, Neveen A. Soliman, Shrikant Mane, Shirlee Shril, Michael A. Ferguson, Friedhelm Hildebrandt · 发表于：Genetics in Medicine · 年份：2021 · DOI：10.1016/j.gim.2021.09.010 · 被引用次数：39 · 研究领域：Renal and related cancers、Renal cell carcinoma treatment、Genetic and Kidney Cyst Diseases