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Pediatric Nephrology (Berlin, Germany)|April 20, 2019
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in childrenAsaf Vivante, Orna Staretz Chacham, Shirlee Shril, et al.BMC Medical Genomics|November 13, 2021
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasisIhsan Ullah, Isabel Ottlewski, Wasim Shehzad, et al.Pediatric Nephrology (Berlin, Germany)|September 5, 2023
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two familiesDalia Pantel, Nils D Mertens, Ronen Schneider, et al.BMC Medical Genetics|March 30, 2019
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literatureBen Pode-Shakked, Asaf Vivante, Ortal Barel, et al.Plos One|January 19, 2018
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish modelTilman Jobst-Schwan, Johanna Magdalena Schmidt, Ronen Schneider, et al.Journal of the American Society of Nephrology : JASN|May 7, 2016
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary TractAsaf Vivante, Daw-Yang Hwang, Stefan Kohl, et al.Nephron|July 27, 2023
Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal KidneyLuca M Schierbaum, Sophia Schneider, Florian Buerger, et al.Kidney International|June 8, 2020
Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitmentRia Schönauer, Wenjun Jin, Anastasia Ertel, et al.American Journal of Medical Genetics. Part A|September 15, 2021
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tractBixia Zheng, Chunyan Wang, Steve Seltzsam, et al.Biorxiv : the Preprint Server for Biology|June 10, 2024
Ancient eukaryotic protein interactions illuminate modern genetic traits and disordersRachael M Cox, Ophelia Papoulas, Shirlee Shril, et al.Pageof 10