Katherine A. Benson

Monogenic causes of chronic kidney disease in adults

Dervla M. Connaughton, Claire Kennedy, Shirlee Shril et al. · Kidney International · 2019 · 262 citations

Glomerular Disease, Glomerulonephritis, Renal Disease +7

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

Sarah R. Senum, Ying Li, Katherine A. Benson et al. · The American Journal of Human Genetics · 2021 · 151 citations · Full text

Urology, Autoimmune Disease, Medicine +12

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Ryan J. Schmidt, Marcie Steeves, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2023 · 55 citations · Full text

Health Policy, Disease Risk Assessment, Patient Safety +5

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

Katherine A. Benson, Máire White, Nicholas M. Allen et al. · European Journal of Human Genetics · 2020 · 49 citations · Full text

Neurodevelopmental Disorders, Intellectual Impairment, Genetic Disorder +6

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

Kendrah Kidd, Petr Vyleťal, Céline Schaeffer et al. · Kidney International Reports · 2020 · 49 citations · Full text