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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 23, 2025
Nephrectomy in autosomal dominant polycystic kidney disease: a consensus statement of the ERA Genes & Kidney Working GroupPaul Geertsema, Ron T Gansevoort, Mustafa Arici, et al.Biorxiv : the Preprint Server for Biology|August 8, 2025
CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesisLea M Merz, Shirlee Shril, Tucker J Carrocci, et al.The Lancet. Gastroenterology & Hepatology|June 15, 2024
Clinical management of liver cyst infections: an international, modified Delphi-based clinical decision frameworkRenée Duijzer, Lucas H P Bernts, Anja Geerts, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 26, 2022
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasisAmar J Majmundar, Eugen Widmeier, John F Heneghan, et al.Kidney International|May 26, 2020
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1Eric Olinger, Patrick Hofmann, Kendrah Kidd, et al.American Journal of Human Genetics|January 6, 2015
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingMarkus Schueler, Daniela A Braun, Gayathri Chandrasekar, et al.Gastroenterology|December 15, 2023
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver DiseaseRia Schönauer, Dana Sierks, Melissa Boerrigter, et al.Nature Communications|October 22, 2015
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationAlbane A Bizet, Anita Becker-Heck, Rebecca Ryan, et al.American Journal of Human Genetics|January 17, 2017
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisMaxence S Macia, Jan Halbritter, Marion Delous, et al.Journal of Nephrology|January 30, 2025
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney diseaseElhussein A E Elhassan, Kane E Collins, Sophia Heneghan, et al.Pageof 17