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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.Kidney International|September 13, 2017
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosisAnkana Daga, Amar J Majmundar, Daniela A Braun, et al.Journal of the American Society of Nephrology : JASN|February 17, 2021
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat SyndromeNina Mann, Slim Mzoughi, Ronen Schneider, et al.American Journal of Human Genetics|August 4, 2015
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter DevelopmentAsaf Vivante, Marc-Jens Kleppa, Julian Schulz, et al.European Journal of Human Genetics : EJHG|October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Denisa Weis, Ingvild Aukrust, et al.Kidney International|February 19, 2019
Monogenic causes of chronic kidney disease in adultsDervla M Connaughton, Claire Kennedy, Shirlee Shril, et al.Kidney International|January 21, 2026
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathyMichelle Clince, Elhussein A E Elhassan, Kendrah Kidd, 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.American Journal of Human Genetics|November 4, 2017
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney MalformationsSimone Sanna-Cherchi, Kamal Khan, Rik Westland, et al.Pageof 10