Anthony T. Moore

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Christiane Alexander, Marcela Votruba, Ulrike E. A. Pesch et al. · Nature Genetics · 2000 · 1.3K citations

Mendelian Disorder, Dynamin-related Gtpase, Genetic Disorder +6

Clinical Features and Natural History of von Hippel-Lindau Disease

Eamonn R. Maher, John R.W. Yates, R W J Harries et al. · QJM · 1990 · 947 citations

Complement C3 Variant and the Risk of Age-Related Macular Degeneration

John R.W. Yates, Tiina Sepp, Baljinder K. Matharu et al. · New England Journal of Medicine · 2007 · 823 citations · Full text

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

A Human Homolog of Yeast Pre-mRNA Splicing Gene, PRP31, Underlies Autosomal Dominant Retinitis Pigmentosa on Chromosome 19q13.4 (RP11)

Eranga N. Vithana, Leen Abu‐Safieh, Maxine Allen et al. · Molecular Cell · 2001 · 329 citations · Full text

Chromatin, Transcriptional Regulation, Genetics +10