Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families

作者：Lea Maria Merz, Caroline M. Kolvenbach, Chunyan Wang, Nils D. Mertens, Steve Seltzsam, Bshara Mansour, Bixia Zheng, Sophia Schneider, Luca Schierbaum, Selina Hölzel, Daanya Salmanullah, Dalia Pantel, Gina Kalkar, Dervla M. Connaughton, Nina Mann, Chen‐Han Wilfred Wu, Franziska Kause, Makiko Nakayama, Rufeng Dai, Ronen Schneider, Florian Buerger, Camille Nicolas‐Frank, Kirollos Yousef, Katharina Lemberg, Ken Saida, Seyoung Yu, Izzeldin Elmubarak, Gijs A. C. Franken, Kraisoon Lomjansook, Alina Braun, Stuart B. Bauer, Nancy Rodig, Michael J.G. Somers, Avram Z. Traum, Deborah R. Stein, Ankana Daga, Michelle A. Baum, Ghaleb H. Daouk, Hazem S. Awad, Loai Eid, Sherif El Desoky, Mohammed Shalaby, Jameela A. Kari, Said Ahmed Ooda, Hanan Fathy, Neveen A. Soliman, Marwa M. Nabhan, Safaa Abdelrahman, Alina C. Hilger, Shrikant Mane, Michael A. Ferguson, Velibor Tasić, Shirlee Shril, Friedhelm Hildebrandt · 发表于：Genetics in Medicine · 年份：2025 · DOI：10.1016/j.gim.2025.101432 · 被引用次数：6 · 研究领域：Renal and related cancers、Genetic and Kidney Cyst Diseases、Renal cell carcinoma treatment