Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
Autosomal Dominant Tubulointerstitial Kidney Disease: A Review.
Bleyer AJ et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2025
A founder UMOD variant is a common cause of hereditary nephropathy in the British population.
Valluru MK et al.
Journal of Medical Genetics, 2023
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.
Mabillard H et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2023
A pragmatic approach to selective genetic testing in kidney transplant candidates.
Nissaisorakarn P et al.
Frontiers in Transplantation, 2023
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Autosomal Dominant Tubulointerstitial Kidney Disease-Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease.
Chun J et al.
Kidney International Reports, 2020
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.
Gast C et al.
Bmc Nephrology, 2018
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett AJ et al.
Kidney International, 2017
Pathogenic uromodulin mutations result in premature intracellular polymerization.
Stewart AP et al.
Febs Letters, 2015
Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure.
Smith GD et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011