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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|June 30, 2022
Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney MalformationsStefan Kohl, Fred E Avni, Peter Boor, 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.Nature Genetics|February 16, 2016
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndromeDaniela A Braun, Carolin E Sadowski, Stefan Kohl, et al.Proceedings of the National Academy of Sciences of the United States of America|May 22, 2023
Germline C1GALT1C1 mutation causes a multisystem chaperonopathyFlorian Erger, Rajindra P Aryal, Björn Reusch, 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.Human Genetics|June 1, 2015
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tractDaw-Yang Hwang, Stefan Kohl, Xueping Fan, et al.Kidney International|October 25, 2013
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL associationPawaree Saisawat, Stefan Kohl, Alina C Hilger, 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.American Journal of Respiratory and Critical Care Medicine|February 27, 2014
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotypeMichael R Knowles, Lawrence E Ostrowski, Margaret W Leigh, et al.Kidney International|November 22, 2013
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathiesHeon Yung Gee, Edgar A Otto, Toby W Hurd, et al.Pageof 5