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Kidney International Reports|October 27, 2025
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center CohortKatharina Lemberg, Mohamed A Shalaby, Elena Zion, et al.
Kidney International|January 22, 2020
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosisTilman Jobst-Schwan, Verena Klämbt, Maureen Tarsio, 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.
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|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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 26, 2022
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasisAmar J Majmundar, Eugen Widmeier, John F Heneghan, et al.
Biorxiv : the Preprint Server for Biology|August 8, 2025
CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesisLea M Merz, Shirlee Shril, Tucker J Carrocci, 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|July 1, 2018
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic SyndromeTobias Hermle, Ronen Schneider, David Schapiro, et al.
Hypertension (Dallas, Tex. : 1979)|February 28, 2018
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic SyndromeJillian K Warejko, Markus Schueler, Asaf Vivante, et al.
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