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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
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
Single-cell RNA sequencing has revolutionized ocular gene expression studies. This
technology has enabled researchers to identify expression signatures for rare cell types and …
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
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 …
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 …
among the elderly population. To accelerate the understanding of the genetics of AMD, we …