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Clinical Kidney Journal|February 26, 2015
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'Noel Edwards, Sarah J Rice, Shreya Raman, et al.
European Journal of Human Genetics : EJHG|July 14, 2018
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variantsElisa Molinari, Eva Decker, Holly Mabillard, et al.
Clinical Science (London, England : 1979)|July 17, 2025
Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry diseasePraveen Dhondurao Sudhindar, Sarah E Orr, Eve Miller-Hodges, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 21, 2014
Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisisAnn Marie Hynes, Rachel H Giles, Shalabh Srivastava, et al.
The Journal of Clinical Investigation|August 25, 2015
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndromeGisela G Slaats, Joshua C Saldivar, Julien Bacal, et al.
American Journal of Human Genetics|October 2, 2018
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein CompositionSumaya Alkanderi, Elisa Molinari, Ranad Shaheen, et al.
Kidney International Reports|December 19, 2024
SGLT2-Inhibition in Patients With Alport SyndromeJan Boeckhaus, Daniel P Gale, James Simon, et al.
Lancet (London, England)|March 16, 2024
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohortKatie Wong, David Pitcher, Fiona Braddon, et al.
Kidney International Reports|July 31, 2024
Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases CohortKatie Wong, David Pitcher, Fiona Braddon, et al.
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