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American Journal of Human Genetics|December 24, 2013
Mutations in CSPP1 lead to classical Joubert syndromeNaiara Akizu, Jennifer L Silhavy, Rasim Ozgur Rosti, et al.Journal of Medical Genetics|August 16, 2015
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotypeIsabelle Perrault, Jan Halbritter, Jonathan D Porath, et al.European Journal of Human Genetics : EJHG|February 22, 2023
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney diseaseFloranne Boulogne, Laura R Claus, Henry Wiersma, et al.American Journal of Human Genetics|July 27, 2022
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosisHugo Lemoine, Loann Raud, François Foulquier, 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.Kidney International Reports|December 19, 2024
SGLT2-Inhibition in Patients With Alport SyndromeJan Boeckhaus, Daniel P Gale, James Simon, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 14, 2024
Donor-derived cell-free DNA monitoring for early diagnosis of antibody-mediated rejection after kidney transplantation: a randomized trialAylin Akifova, Klemens Budde, Kerstin Amann, et al.BMC Nephrology|December 19, 2024
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational studyKendrah O Kidd, Adrienne H Williams, Abbigail Taylor, et al.Kidney International Reports|June 9, 2025
COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome PhenotypeBastian M Krüger, Annika Jens, Anna Neuhaus, et al.Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational StudyKendrah O Kidd, Adrienne H Williams, Abbigail Taylor, et al.Pageof 17