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Clinical Kidney Journal|October 8, 2025
Age at disease onset and risk of chronic kidney disease in patients with heterozygous disease-causing variants in COL4A3 and COL4A4Ningning Hu, Lei Sun, Xuantong Dai, et al.Journal of Medical Genetics|December 16, 2020
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathyXiaoshan Tang, Cuihua Liu, Xiaorong Liu, 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.European Journal of Medical Genetics|September 6, 2020
Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohortShuzhen Sun, Linan Xu, Yunli Bi, et al.BMC Medical Genomics|October 26, 2021
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohortXue Yang, Yaqi Li, Ye Fang, 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.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.Kidney International|May 26, 2020
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndromeNan Yang, Nan Wu, Shuangshuang Dong, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 22, 2022
Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort studyJia-Lu Liu, Xiao-Wen Wang, Cui-Hua Liu, et al.Journal of the American Society of Nephrology : JASN|July 1, 2018
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic SyndromeTobias Hermle, Ronen Schneider, David Schapiro, et al.Pageof 13