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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 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

2021Genetics in Medicine37 citationsDOIOpen Access PDF

Topics & Concepts

Exome sequencingPhenotypeDiseaseAlleleGenotypeMedicineGeneticsBiologyGenePathologyRenal and related cancersRenal cell carcinoma treatmentGenetic and Kidney Cyst Diseases
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT | Litcius