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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 24, 2020
Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humansVerena Klämbt, Max Werth, Ana C Onuchic-Whitford, et al.Human Mutation|July 2, 2021
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several familiesEric Olinger, Intisar Al Alawi, Mohammed S Al Riyami, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2020
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)Chen-Han Wilfred Wu, Nina Mann, Makiko Nakayama, et al.Human Genetics|June 24, 2019
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humansThomas M Kitzler, Ronen Schneider, Stefan Kohl, et al.Kidney International|September 2, 2019
Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndromeAshish K Solanki, Eugen Widmeier, Ehtesham Arif, et al.American Journal of Medical Genetics. Part A|August 7, 2018
Mutations in WDR4 as a new cause of Galloway-Mowat syndromeDaniela A Braun, Shirlee Shril, Aditi Sinha, et al.Kidney International|October 22, 2015
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicityDaniela A Braun, Markus Schueler, Jan Halbritter, et al.Journal of the American Society of Nephrology : JASN|April 17, 2021
A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGSBrandon M Lane, Susan Murray, Katherine Benson, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 14, 2018
Genetic variants in the LAMA5 gene in pediatric nephrotic syndromeDaniela A Braun, Jillian K Warejko, Shazia Ashraf, et al.Journal of the American Society of Nephrology : JASN|October 29, 2014
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndromeCarolin E Sadowski, Svjetlana Lovric, Shazia Ashraf, et al.Pageof 10