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Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to <i>MUC1</i> Mutations: An Observational StudyKendrah O Kidd, Adrienne H Williams, Abbigail Taylor, et al.Archives of Ophthalmology (Chicago, Ill. : 1960)|September 14, 2011
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 yearsSamuel G Jacobson, Artur V Cideciyan, Ramakrishna Ratnakaram, et al.Journal of Nephrology|May 29, 2024
Donor genetic burden for cerebrovascular risk and kidney transplant outcomeKane E Collins, Edmund Gilbert, Vincent Mauduit, et al.Nature Communications|December 22, 2022
Epigenome-wide meta-analysis identifies DNA methylation biomarkers associated with diabetic kidney diseaseLaura J Smyth, Emma H Dahlström, Anna Syreeni, et al.Transplant International : Official Journal of the European Society for Organ Transplantation|March 19, 2025
Donor and Recipient Polygenic Risk Scores Influence Kidney Transplant FunctionKane E Collins, Edmund Gilbert, Vincent Mauduit, et al.Journal of the American Society of Nephrology : JASN|April 15, 2018
<i>NPHP1</i> (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRDRozemarijn Snoek, Jessica van Setten, Brendan J Keating, et al.Kidney International Reports|November 9, 2020
Pilot Randomized Controlled Trial of a Standard Versus a Modified Low-Phosphorus Diet in Hemodialysis PatientsFiona N Byrne, Barbara A Gillman, Mairead Kiely, et al.Journal of Nephrology|March 3, 2025
Polygenic risk scores for eGFR are associated with age at kidney failureKane E Collins, Edmund Gilbert, Vincent Mauduit, et al.American Journal of Human Genetics|December 10, 2021
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotypeSarah R Senum, Ying Sabrina M Li, Katherine A Benson, et al.Kidney International Reports|July 31, 2024
A Novel Monoallelic <i>ALG5</i> Variant Causing Late-Onset ADPKD and Tubulointerstitial FibrosisElhussein A E Elhassan, Tereza Kmochová, Katherine A Benson, et al.Pageof 36