Donna Mackay

Donna Mackay

Washington University Saint Louis - St. Louis / United States
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 1352575
person_outline Donna Mackay's MOST POPULAR ARTICLES
1-) A novel α-synuclein missense mutation in Parkinson diseaseC Proukakis, CG Dudzik, T Brier, DS MacKay, JM Cooper, GL Millhauser, ...Neurology 80 (11), 1062-1064, 20134962013
2-) A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant “zonular pulverulent” cataract, on chromosome 1qA Shiels, D Mackay, A Ionides, V Berry, A Moore, S BhattacharyaThe American Journal of Human Genetics 62 (3), 526-532, 19984031998
3-) Connexin46 mutations in autosomal dominant congenital cataractD Mackay, A Ionides, Z Kibar, G Rouleau, V Berry, A Moore, A Shiels, ...The American Journal of Human Genetics 64 (5), 1357-1364, 19993321999
4-) NMNAT1 mutations cause Leber congenital amaurosisMJ Falk, Q Zhang, E Nakamaru-Ogiso, C Kannabiran, Z Fonseca-Kelly, ...Nature genetics 44 (9), 1040-1045, 20122212012
5-) Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humansZ Li, PI Sergouniotis, M Michaelides, DS Mackay, GA Wright, S Devery, ...The American Journal of Human Genetics 85 (5), 711-719, 20092172009