Major review: Molecular genetics of primary open-angle glaucoma

Y Liu, RR Allingham - Experimental eye research, 2017 - Elsevier
Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), the most common type, is a complex inherited disorder that is …

The role of AUTS2 in neurodevelopment and human evolution

N Oksenberg, N Ahituv - Trends in Genetics, 2013 - cell.com
The autism susceptibility candidate 2 (AUTS2) gene is associated with multiple neurological
diseases, including autism, and has been implicated as an important gene in human …

A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci

H Choquet, S Paylakhi, SC Kneeland, KK Thai… - Nature …, 2018 - nature.com
Primary open-angle glaucoma (POAG) is a leading cause of irreversible vision loss, yet
much of the genetic risk remains unaccounted for, especially in African-Americans who have …

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

H Springelkamp, AI Iglesias, A Mishra… - Human molecular …, 2017 - academic.oup.com
Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable
disease. Siblings of POAG cases have a ten-fold increased risk of developing the disease …

Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration

V Cipriani, L Lorés-Motta, F He, D Fathalla… - Nature …, 2020 - nature.com
Age-related macular degeneration (AMD) is a leading cause of blindness. Genetic variants
at the chromosome 1q31. 3 encompassing the complement factor H (CFH, FH) and CFH …

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

T Aung, M Ozaki, MC Lee, U Schlötzer-Schrehardt… - Nature …, 2017 - nature.com
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma
and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A …

Meta‐analysis of genome‐wide association studies identifies novel loci associated with optic disc morphology

H Springelkamp, A Mishra, PG Hysi… - Genetic …, 2015 - Wiley Online Library
Primary open‐angle glaucoma is the most common optic neuropathy and an important
cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in …

[HTML][HTML] Spectacle: an interactive resource for ocular single-cell RNA sequencing data analysis

AP Voigt, SS Whitmore, ND Lessing, AP DeLuca… - Experimental eye …, 2020 - Elsevier
Single-cell RNA sequencing has revolutionized ocular gene expression studies. This
technology has enabled researchers to identify expression signatures for rare cell types and …

Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error

Q Fan, VJM Verhoeven, R Wojciechowski… - Nature …, 2016 - nature.com
Myopia is the most common human eye disorder and it results from complex genetic and
environmental causes. The rapidly increasing prevalence of myopia poses a major public …

Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration

X Han, P Gharahkhani, P Mitchell, G Liew… - Journal of human …, 2020 - nature.com
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness
among the elderly population. To accelerate the understanding of the genetics of AMD, we …