Katherine O. Welch

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands

Arti Pandya, Kathleen S. Arnos, Xia J. Xia et al. · Genetics in Medicine · 2003 · 160 citations

Genetic Disorder, Genetics, Molecular Biology +5

Identification of p.A684V missense mutation in the <i>WFS1</i> gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

Nanna Dahl Rendtorff, Marianne Lodahl, Houda Boulahbel et al. · American Journal of Medical Genetics Part A · 2011 · 119 citations · Full text

Optic Atrophy-1 Gene, Mendelian Disorder, Genetic Disorder +13

NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory

Darrel Waggoner, Gordana Raca, Katherine O. Welch et al. · Genetics in Medicine · 2005 · 61 citations

Clinical Disorders, Sotos Syndrome, Nsd1 Analysis +7

A Comparative Analysis of the Genetic Epidemiology of Deafness in the United States in Two Sets of Pedigrees Collected More than a Century Apart

Kathleen S. Arnos, Katherine O. Welch, Mustafa Tekin et al. · The American Journal of Human Genetics · 2008 · 39 citations · Full text

Genetics, Genetic Epidemiology, Audiology +9

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young

D. Nicole R. Methner, Steven E. Scherer, Katherine O. Welch et al. · Genome Research · 2016 · 29 citations · Full text

Genetic Testing, Genetics, Genetic Epidemiology +18