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American Journal of Human Genetics|January 5, 2019
Mutations of ADAMTS9 Cause Nephronophthisis-Related CiliopathyYo Jun Choi, Jan Halbritter, Daniela A Braun, et al.Scientific Reports|July 10, 2024
Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish typeKatharina Lemberg, Nils D Mertens, Kirollos Yousef, et al.American Journal of Medical Genetics. Part A|June 19, 2021
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasiaGabrielle Lemire, Bixia Zheng, Grace U Ediae, et al.American Journal of Human Genetics|May 24, 2016
Mutations in SLC26A1 Cause NephrolithiasisHeon Yung Gee, Ikhyun Jun, Daniela A Braun, et al.American Journal of Physiology. Renal Physiology|March 14, 2024
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studiesFlorian Buerger, Lea M Merz, Ken Saida, et al.Journal of Nephrology|July 14, 2024
Phenotypic quantification of Nphs1-deficient miceRonen Schneider, Bshara Mansour, Caroline M Kolvenbach, et al.American Journal of Medical Genetics. Part A|May 22, 2023
Recessive CHRM5 variant as a potential cause of neurogenic bladderSophia Schneider, Luca Schierbaum, Wessel A C Burger, et al.Pediatric Nephrology (Berlin, Germany)|August 6, 2017
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of casesAsaf Vivante, Hadas Ityel, Ben Pode-Shakked, et al.Kidney International Reports|February 22, 2021
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent ApproachesVerena Klämbt, Youying Mao, Ronen Schneider, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 9, 2018
Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in childrenDavid Schapiro, Ankana Daga, Jennifer A Lawson, et al.Pageof 10