Publication
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT
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 W. Lai, Daanya Salmanullah, Amar J. Majmundar, Stuart B. Bauer, Nancy M. Rodig, Michael J.G. Somers, Avram Z. Traum, Deborah R. Stein, Ankana Daga, Michelle A. Baum, Ghaleb H. Daouk, Velibor Tasic, Hazem S. Awad, Loai A. Eid, Sherif El Desoky, Mohammed Shalaby, Jameela A. Kari, Hanan M. Fathy, Neveen A. Soliman, Shrikant M. Mane, Shirlee Shril, Michael A. Ferguson, Friedhelm Hildebrandt
Genetics in Medicine, February 2022, Elsevier
DOI: 10.1016/j.gim.2021.09.010