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American Journal of Human Genetics|November 12, 2019
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor MutationsNina Mann, Franziska Kause, Erik K Henze, et al.NPJ Genomic Medicine|December 2, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomesCourtney E French, Nancy C Andrews, Alan H Beggs, et al.European Urology Open Science|October 3, 2022
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary TractChen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, et al.Journal of the American Society of Nephrology : JASN|January 19, 2019
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant RecipientsNina Mann, Daniela A Braun, Kassaundra Amann, et al.Science Advances|February 1, 2021
Recessive <i>NOS1AP</i> variants impair actin remodeling and cause glomerulopathy in humans and miceAmar J Majmundar, Florian Buerger, Thomas A Forbes, et al.Journal of the American Society of Nephrology : JASN|February 17, 2021
Mutations in <i>PRDM15</i> Are a Novel Cause of Galloway-Mowat SyndromeNina Mann, Slim Mzoughi, Ronen Schneider, et al.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.Pageof 5