Mary O’Driscoll

Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates

Ronald G. Lafrenière, Marcia L.E. MacDonald, Marie‐Pierre Dubé et al. · The American Journal of Human Genetics · 2004 · 156 citations · Full text

Mendelian Disorder, Novel Gene, Genetic Disorder +9

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

Mary O’Driscoll, Sarah B. Daly, Jill Urquhart et al. · The American Journal of Human Genetics · 2010 · 142 citations · Full text

Protein Secretion, Protein Function, Signal Transduction +11

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Andrea Delle Vedove, Markus Storbeck, Raoul Heller et al. · The American Journal of Human Genetics · 2016 · 94 citations · Full text

Physiology, Orthopaedic Surgery, Perinatal Respiratory Distress +1

Identification of genomic loci contributing to agenesis of the corpus callosum

Mary O’Driscoll, Graeme C. Black, Jill Clayton‐Smith et al. · American Journal of Medical Genetics Part A · 2010 · 74 citations

Neurogenomics, Brain Development, Genetics +27

Impact of Gender and Parent of Origin on the Phenotypic Expression of Hereditary Nonpolyposis Colorectal Cancer in a Large Newfoundland Kindred With a Common MSH2 Mutation

Jane Green, Mary O’Driscoll, Adam F. Barnes et al. · Diseases of the Colon & Rectum · 2002 · 57 citations