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Kidney International|February 19, 2019
Monogenic causes of chronic kidney disease in adultsDervla M Connaughton, Claire Kennedy, Shirlee Shril, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUTSteve Seltzsam, Chunyan Wang, Bixia Zheng, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2025
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT familiesLea Maria Merz, Caroline M Kolvenbach, Chunyan Wang, et al.Journal of the American Society of Nephrology : JASN|August 26, 2018
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary TractAmelie T van der Ven, Dervla M Connaughton, Hadas Ityel, et al.American Journal of Human Genetics|September 6, 2020
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract MalformationsDervla M Connaughton, Rufeng Dai, Danielle J Owen, et al.Pageof 2