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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.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.Kidney International Reports|February 22, 2021
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic SyndromeYouying Mao, Ronen Schneider, Peter F M van der Ven, et al.American Journal of Human Genetics|November 12, 2019
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor MutationsNina Mann, Franziska Kause, Erik K Henze, et al.European Urology Open Science|October 3, 2022
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary TractChen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, et al.Pediatric Nephrology (Berlin, Germany)|January 23, 2026
Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndromeBshara Mansour, Katharina Lemberg, Ronen Schneider, et al.The Journal of Clinical Investigation|October 24, 2017
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndromeJia Rao, Shazia Ashraf, Weizhen Tan, et al.Kidney International|September 13, 2017
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosisAnkana Daga, Amar J Majmundar, Daniela A Braun, et al.The Journal of Clinical Investigation|November 26, 2013
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruptionShazia Ashraf, Heon Yung Gee, Stephanie Woerner, et al.Pageof 4