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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.
Science Translational Medicine|January 4, 2023
Assessment of systemic AAV-microdystrophin gene therapy in the GRMD model of Duchenne muscular dystrophySharla M Birch, Michael W Lawlor, Thomas J Conlon, et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|March 29, 2019
The impact of donor and recipient common clinical and genetic variation on estimated glomerular filtration rate in a European renal transplant populationCaragh P Stapleton, Andreas Heinzel, Weihua Guan, et al.
Kidney International Reports|September 21, 2020
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to <i>UMOD</i> MutationsKendrah Kidd, Petr Vylet'al, Céline Schaeffer, et al.
Kidney International|February 19, 2019
Monogenic causes of chronic kidney disease in adultsDervla M Connaughton, Claire Kennedy, Shirlee Shril, et al.
Kidney International|January 21, 2026
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathyMichelle Clince, Elhussein A E Elhassan, Kendrah Kidd, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 19, 2025
Genotype-Phenotype Correlations and Clinical Outcomes of Genetic TRPC6 PodocytopathiesSusan M McAnallen, Elhussein A E Elhassan, Sinead Stoneman, et al.
Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Kidney International|March 23, 2025
Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countriesCharlotte Gimpel, Steffen Fieuws, Jonas Hofstetter, et al.
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