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Scientific Reports|September 15, 2021
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expressionChaozhe Yang, Naoe Harafuji, Amber K O'Connor, et al.
American Journal of Medical Genetics. Part A|January 24, 2023
A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tractCaroline M Kolvenbach, Bixia Zheng, Lea M Merz, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 2, 2021
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tractBixia Zheng, Steve Seltzsam, Chunyan Wang, et al.
Human Genetics|February 20, 2019
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasisAli Amar, Amar J Majmundar, Ihsan Ullah, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 25, 2016
Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tractStefan Kohl, Jing Chen, Asaf Vivante, et al.
Cell Genomics|May 27, 2026
A protein interactome for the last eukaryotic common ancestor illuminates the biochemical basis of modern genetic diseasesRachael M Cox, Ophelia Papoulas, Shirlee Shril, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 28, 2019
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndromeSimon A Ramsbottom, Peter E Thelwall, Katrina M Wood, et al.
Kidney International Reports|August 19, 2024
Pathogenic PHIP Variants are Variably Associated With CAKUTJonathan de Fallois, Tobias Sieckmann, Ria Schönauer, et al.
Clinical Journal of the American Society of Nephrology : CJASN|January 21, 2016
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or NephrocalcinosisDaniela Anne Braun, Jennifer Ashley Lawson, Heon Yung Gee, et al.
Pediatric Nephrology (Berlin, Germany)|September 19, 2017
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single centerWeizhen Tan, Svjetlana Lovric, Shazia Ashraf, et al.
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