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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 2, 2021
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genesCaroline M Kolvenbach, Amelie T van der Ven, Franziska Kause, et al.Plos One|January 20, 2018
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral refluxAmelie T van der Ven, Birgit Kobbe, Stefan Kohl, et al.American Journal of Medical Genetics. Part A|January 18, 2022
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse modelsChunyan Wang, Steve Seltzsam, Bixia Zheng, et al.Journal of the American Society of Nephrology : JASN|April 7, 2017
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations <i>via</i> Dysregulation of Retinoic Acid SignalingAsaf Vivante, Nina Mann, Hagith Yonath, et al.Kidney International Reports|February 22, 2021
Recessive Mutations in <i>SYNPO2</i> as a Candidate of Monogenic Nephrotic SyndromeYouying Mao, Ronen Schneider, Peter F M van der Ven, et al.Journal of the American Society of Nephrology : JASN|November 22, 2022
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and FrogsVerena Klämbt, Florian Buerger, Chunyan Wang, et al.American Journal of Human Genetics|November 24, 2020
DAAM2 Variants Cause Nephrotic Syndrome via Actin DysregulationRonen Schneider, Konstantin Deutsch, Gregory J Hoeprich, et al.Pageof 5