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Journal of Rare Diseases (Berlin, Germany)|September 8, 2025
Late onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygous CYP24A1 pathogenic variantMarwa Abouzeina, Paul Mead, Rhema Okpongete, et al.F1000Research|December 11, 2020
Case Report: Renal potassium wasting in SARS-CoV-2 infectionHolly Mabillard, Hilary Tedd, Ally Speight, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 15, 2022
Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney diseaseEric Olinger, Pran Phakdeekitcharoen, Yasar Caliskan, et al.Journal of the American Society of Nephrology : JASN|March 26, 2026
Lipocalin-2 Is Induced by Uromodulin Aggregates without Impacting Kidney Disease Progression in Autosomal Dominant Tubulointerstitial Kidney Disease-UMODJennifer Lake, Marta Mariniello, Guglielmo Schiano, et al.Journal of Rare Diseases (Berlin, Germany)|June 8, 2023
Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndromeRobert M Geraghty, Sarah Orr, Eric Olinger, et al.Genes|November 27, 2024
ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal CasesLama S Almohlesy, Faiqa Imtiaz, Maha Tulbah, et al.Journal of Cell Science|August 8, 2025
Urinary renal epithelial cells for NPHP1 phenotyping and personalized therapeutic responsePraveen Dhondurao Sudhindar, Eric Olinger, Zachary T Sentell, et al.European Journal of Human Genetics : EJHG|July 14, 2018
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variantsElisa Molinari, Eva Decker, Holly Mabillard, et al.Molecular Genetics & Genomic Medicine|May 19, 2023
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndromeMohamed S Al Riyami, Intisar Al Alawi, Badria Al Gaithi, et al.Proceedings of the National Academy of Sciences of the United States of America|August 10, 2022
An intermediate-effect size variant in UMOD confers risk for chronic kidney diseaseEric Olinger, Céline Schaeffer, Kendrah Kidd, et al.Pageof 3