Katherine A. Benson - Publications

An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease.

Journal: European journal of human genetics : EJHG

Published: July 07, 2025

Donor and Recipient Polygenic Risk Scores Influence Kidney Transplant Function.

Journal: Transplant international : official journal of the European Society for Organ Transplantation

Published: December 06, 2024

Characterization of Monogenic Kidney Disease in Older Patients With CKD.

Journal: Kidney international reports

Published: November 11, 2024

The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.

Journal: Journal of nephrology

Published: October 09, 2024

Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: September 15, 2024

Polygenic risk scores for eGFR are associated with age at kidney failure.

Journal: Journal of nephrology

Published: September 02, 2024

Phenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney disease.

Journal: Journal of nephrology

Published: August 29, 2024

Integrated Use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools for Risk Prognostication.

Journal: Clinical journal of the American Society of Nephrology : CJASN

Published: June 18, 2024

Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.

Journal: Molecular genetics & genomic medicine

Published: April 28, 2024

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.

Journal: Kidney international reports

Published: January 12, 2024

Donor genetic burden for cerebrovascular risk and kidney transplant outcome.

Journal: Journal of nephrology

Published: December 20, 2023

Rare disease gene association discovery in the 100,000 Genomes Project.

Journal: Nature

Published: December 19, 2023