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 · 162 citations

Life Sciences, Genetics, Molecular Genetics +11

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 · 124 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Medicine, Molecular Medicine, Neurology +3

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

Life Sciences, Genetics, Molecular Genetics +11

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 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17