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American Journal of Physiology. Renal Physiology|July 15, 2025
Valosin-containing protein in ciliary morphology: a novel target in ADPKDCarlotta Pioppini, Rishi Bhardwaj, Ria Schönauer, et al.
JHEP Reports : Innovation in Hepatology|October 17, 2022
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysisDana Sierks, Ria Schönauer, Anja Friedrich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 14, 2020
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genesRia Schönauer, Sebastian Baatz, Melanie Nemitz-Kliemchen, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 1, 2026
KDIGO 2025 Clinical Practice Guideline for ADPKD: a commentary on intracranial aneurysms and other vascular manifestations from the ERA Working Group Genes & KidneyMelanie M Y Chan, Tom Nijenhuis, Flavia Galletti, et al.
Scientific Reports|August 25, 2019
Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb HomeostasisEric Olinger, Jennifer Lake, Susan Sheehan, et al.
Elife|August 21, 2020
The cryo-EM structure of the human uromodulin filament core reveals a unique assembly mechanismJessica J Stanisich, Dawid S Zyla, Pavel Afanasyev, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 4, 2022
Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probabilityRia Schönauer, Lotte Scherer, Melanie Nemitz-Kliemchen, et al.
Neurological Research and Practice|June 19, 2024
Imbalance of the von Willebrand Factor - ADAMTS-13 axis in patients with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)Max Braune, Moritz Metelmann, Jonathan de Fallois, et al.
Clinical Kidney Journal|January 12, 2024
Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndromeSebastian Sewerin, Charlotte Aurnhammer, Cene Skubic, 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.
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