Cate Walsh Vockley

Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of<i>PTC1</i>-like domains in<i>NPC1</i>

Walter D. Park, John F. O’Brien, Patrick A. Lundquist et al. · Human Mutation · 2003 · 216 citations

Medicine, Genetics, Molecular Genetics +16

The National Niemann–Pick C1 disease database: Report of clinical features and health problems

William S. Garver, Gordon A. Francis, David Jelínek et al. · American Journal of Medical Genetics Part A · 2007 · 161 citations

Medicine, Neurology, Pediatrics +13

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Loren Peña, Sandra C. Van Calcar, Joyanna Hansen et al. · Molecular Genetics and Metabolism · 2016 · 90 citations

Life Sciences, Genetics, Molecular Genetics +12

Ethical Issues in Cancer Genetics: 1) Whose Information Is It?

Katherine A. Schneider, Anu Chittenden, Kelly J. Branda et al. · Journal of Genetic Counseling · 2006 · 17 citations · Full text

Health Professions, Genetics, Oncology +17

Novel <scp><i>GUCY2C</i></scp> variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach

Rachel Wolfe, Al‐Walid Mohsen, Cate Walsh Vockley et al. · American Journal of Medical Genetics Part A · 2021 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15