Donna S. Mackay

A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1q

Alan Shiels, Donna S. Mackay, Alexander Ionides et al. · The American Journal of Human Genetics · 1998 · 382 citations · Full text

Chromosome 1Q, Ocular Disease, Ophthalmology +6

Connexin46 Mutations in Autosomal Dominant Congenital Cataract

Donna S. Mackay, Alexander Ionides, Zoha Kibar et al. · The American Journal of Human Genetics · 1999 · 299 citations · Full text

Ocular Disease, Cataract, Connexin46 Mutations +1

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

Zheng Li, Panagiotis I. Sergouniotis, Michel Michaelides et al. · The American Journal of Human Genetics · 2009 · 199 citations · Full text

Genetic Disorder, Genetics, Recessive Mutations +4

NMNAT1 mutations cause Leber congenital amaurosis

Marni J. Falk, Qi Zhang, Eiko Nakamaru‐Ogiso et al. · Nature Genetics · 2012 · 196 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q

Donna S. Mackay, Usha P. Andley, Alan Shiels · European Journal of Human Genetics · 2003 · 173 citations · Full text

Novel Mutation, Ocular Disease, Ophthalmology +7