Catherine Deveault

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Catherine Deveault, Gail Billingsley, Jacque L. Duncan et al. · Human Mutation · 2011 · 123 citations

Neurological Disorder, Genetic Epidemiology, Pathology +22

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

G D Billingsley, Jenea M. Bin, Karen Fieggen et al. · Journal of Medical Genetics · 2010 · 90 citations

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation

Catherine Deveault, Jian Qian, Wafaa Chebaro et al. · Human Molecular Genetics · 2008 · 90 citations · Full text

Mole Formation, Genetics, Molecular Biology +16

Women heterozygous forNALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations

Jinhua Qian, Catherine Deveault, Rashmi Bagga et al. · Human Mutation · 2007 · 84 citations · Full text

BBS Mutational Analysis: A Strategic Approach

Gail Billingsley, Catherine Deveault, Elise Héon · Ophthalmic Genetics · 2011 · 32 citations