Associated Papers
Molecular Genetic Mechanisms in Age-Related Macular Degeneration.
Shughoury A et al.
Genes, 2022
Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.
de Breuk A et al.
Jama Ophthalmology, 2021
34647987 (PubMed )
Supplement: jamaophthalmol-e214102-s001.pdf
Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration.
Kremlitzka M et al.
Human Molecular Genetics, 2018
The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.
Geerlings MJ et al.
Molecular Immunology, 2017
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 19.19
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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