A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the
elderly, with limited therapeutic options. Here we report on a study of >12 million variants, …
elderly, with limited therapeutic options. Here we report on a study of >12 million variants, …
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
…, JM Liebmann, T Yamamoto, JE Craig… - Human molecular …, 1999 - academic.oup.com
A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene within this
locus (encoding the protein myocilin) subsequently was shown to harbor mutations in 2–4% …
locus (encoding the protein myocilin) subsequently was shown to harbor mutations in 2–4% …
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Refractive error is the most common eye disorder worldwide and is a prominent cause of
blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The …
blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The …
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
We report a genome-wide association study for open-angle glaucoma (OAG) blindness
using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 …
using a discovery cohort of 590 individuals with severe visual field loss (cases) and 3,956 …
[HTML][HTML] Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
…, DA Mackey, M Kubo, CY Cheng, JE Craig… - Nature …, 2021 - nature.com
Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide.
To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide …
To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide …
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
We conducted a genome-wide association study for primary open-angle glaucoma (POAG)
in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a …
in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a …
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
…, YS Rabinowitz, N Pfeiffer, DA Mackey, JE Craig… - Nature …, 2013 - nature.com
Central corneal thickness (CCT) is associated with eye conditions including keratoconus and
glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian …
glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian …
[PDF][PDF] Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
…, KV Towns, S Scott, DA Mackey, JE Craig… - The American Journal of …, 2004 - cell.com
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal
vascular system. Autosomal dominant FEVR is genetically heterogeneous, but its principal …
vascular system. Autosomal dominant FEVR is genetically heterogeneous, but its principal …
Retinopathy of prematurity: recent advances in our understanding
…, JL Dickinson, DA Mackey, JE Craig… - British Journal of …, 2002 - bjo.bmj.com
Retinopathy of prematurity (ROP) has been recognised as an important cause of childhood
visual impairment and blindness since the 1940s when improved facilities and treatment …
visual impairment and blindness since the 1940s when improved facilities and treatment …
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
…, RP Igo Jr, G Cuellar-Partida, NG Martin, JE Craig… - Nature …, 2018 - nature.com
Refractive errors, including myopia, are the most frequent eye disorders worldwide and an
increasingly common cause of blindness. This genome-wide association meta-analysis in …
increasingly common cause of blindness. This genome-wide association meta-analysis in …