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Clinical Kidney Journal|December 12, 2024
Kidney transplantation in patients with polycystic kidney disease: increased risk of infection does not compromise graft and patient survivalJohannes Waiser, Jens Klotsche, Petra Glander, et al.Journal of Medical Genetics|November 29, 2012
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencingJan Halbritter, Katrina Diaz, Moumita Chaki, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|June 3, 2025
Chronic Kidney Disease of unexplained cause (CKDx): a consensus statement by the Genes & Kidney Working Group of the ERAJan Halbritter, Lucile Figueres, Albertien M Van Eerde, et al.Kidney International|June 8, 2020
Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitmentRia Schönauer, Wenjun Jin, Anastasia Ertel, et al.Journal of Medical Genetics|December 18, 2015
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathiesMarkus Schueler, Jan Halbritter, Ian G Phelps, et al.Kidney International|April 17, 2016
Tubular proteinuria in patients with HNF1α mutations: HNF1α drives endocytosis in the proximal tubuleSara Terryn, Karo Tanaka, Jean-Philippe Lengelé, et al.Journal of the American Society of Nephrology : JASN|May 11, 2013
Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotypeToby W Hurd, Edgar A Otto, Eikan Mishima, et al.Plos One|February 12, 2011
Genetic and evolutionary analyses of the human bone morphogenetic protein receptor 2 (BMPR2) in the pathophysiology of obesityDorit Schleinitz, Nora Klöting, Yvonne Böttcher, et al.Journal of the American Society of Nephrology : JASN|October 10, 2014
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosisJan Halbritter, Michelle Baum, Ann Marie Hynes, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|August 22, 2025
In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney diseaseAntonia Ibel, Rishi Bhardwaj, Duygu Elif Yilmaz, et al.Pageof 17