Concepedia

Mary O’Driscoll

MO

Statistics

Publications

23

Citations

1.7K

H-Index

17

Active since

1983

Affiliations

Birmingham Women’s and Children’s NHS Foundation Trust(Current)

University of Manchester

St George’s University Hospitals NHS Foundation Trust

St George's, University of London

University Hospital of Wales

Mary O’Driscoll is an author at Birmingham Women’s and Children’s NHS Foundation Trust specializing in life sciences, genetics, and genetic disorders.

Publications per year

1983–2023

23

Publications

23

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

, , +14

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 · 157 citations · Full text

, , +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 · 144 citations · Full text

, , +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 · 96 citations · Full text

, , +10

Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection

Wenjun Zhou, Yanlin He, Atteeq U. Rehman et al. · Nature Neuroscience · 2019 · 81 citations

, , +12

1–5 of 23