Research graph
References from Genetic Risk in Families with Age-Related Macular Degeneration. Local targets link to admitted publications; unresolved targets remain external evidence.
Prevalence of age-related macular degeneration in Europe: the past and the future
10.1016/j.ophtha.2017.05.035 · 2017 · External reference
Global causes of blindness and distance vision impairment 1990–2020: a systematic review and meta-analysis
10.1016/s2214-109x(17)30393-5 · 2017 · External reference
A twin study of age-related macular degeneration
10.1016/s0002-9394(14)72729-1 · 1995 · External reference
The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences
10.1001/archopht.123.3.321 · 2005 · External reference
Genetic risk of age-related maculopathy. Population-based familial aggregation study
10.1001/archopht.116.12.1646 · 1998 · External reference
Familial aggregation of age-related maculopathy
10.1016/s0002-9394(14)71036-0 · 1997 · External reference
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
10.1038/ng.3448 · 2016 · External reference
The complement system in age-related macular degeneration: a review of rare genetic variants and implications for personalized treatment
10.1016/j.molimm.2016.11.016 · 2017 · External reference
Genetic risk, lifestyle, and age-related macular degeneration in Europe: the EYE-RISK Consortium
10.1016/j.ophtha.2020.11.024 · 2021 · External reference
Development of a genotype assay for age-related macular degeneration: the EYE-RISK Consortium
10.1016/j.ophtha.2020.07.037 · 2021 · External reference
Rare complement factor H variant associated with age-related macular degeneration in the Amish
10.1167/iovs.13-13684 · 2014 · External reference
Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach
10.1038/ejhg.2009.185 · 2010 · External reference
Mapping rare, deleterious mutations in factor H: association with early onset, drusen burden, and lower antigenic levels in familial AMD
10.1038/srep31531 · 2016 · External reference
Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration
10.1093/hmg/ddu226 · 2014 · External reference
Analysis of risk alleles and complement activation levels in familial and non-familial age-related macular degeneration
10.1371/journal.pone.0144367 · 2016 · External reference
Basal laminar drusen caused by compound heterozygous variants in the CFH gene
10.1016/j.ajhg.2007.11.007 · 2008 · External reference
Whole exome sequencing in patients with the cuticular drusen subtype of age-related macular degeneration
10.1371/journal.pone.0152047 · 2016 · External reference
Rare genetic variants associated with development of age-related macular degeneration
10.1001/jamaophthalmol.2015.5592 · 2016 · External reference
Loss-of-function mutations in the CFH gene affecting alternatively encoded factor H-like 1 protein cause dominant early-onset macular drusen
10.1016/j.ophtha.2019.03.013 · 2019 · External reference
Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene
10.1001/archophthalmol.2012.265 · 2012 · External reference
Allergy is a protective factor against age-related macular degeneration
10.1167/iovs.13-13248 · 2014 · External reference
An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group
10.1016/s0039-6257(05)80092-x · 1995 · External reference
The Wisconsin age-related maculopathy grading system
10.1016/s0161-6420(91)32186-9 · 1991 · External reference
Grading of age-related maculopathy for epidemiological studies: is digital imaging as good as 35-mm film?
10.1016/s0161-6420(03)00501-3 · 2003 · External reference
Whole-exome sequencing in age-related macular degeneration identifies rare variants in COL8A1, a component of Bruch’s membrane
10.1016/j.ophtha.2018.03.040 · 2018 · External reference
Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration
2015 · External reference
The functional effect of rare variants in complement genes on C3b degradation in patients with age-related macular degeneration
10.1001/jamaophthalmol.2016.4604 · 2017 · External reference
A functional variant in the CFI gene confers a high risk of age-related macular degeneration
10.1038/ng.2640 · 2013 · External reference
A general framework for estimating the relative pathogenicity of human genetic variants
10.1038/ng.2892 · 2014 · External reference
Implications of genetic variation in the complement system in age-related macular degeneration
10.1016/j.preteyeres.2021.100952 · 2021 · External reference
Phenotype characteristics of patients with age-related macular degeneration carrying a rare variant in the complement factor H gene
10.1001/jamaophthalmol.2017.3195 · 2017 · External reference
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration
10.1111/cge.13392 · 2018 · External reference