ArticleGenes2019
Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.
Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed.
- The role of complement factor I rare genetic variants in age related macular degeneration in Finland.Human molecular genetics · 2025Article
- Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus (jSLE).Molecular and cellular pediatrics · 2023Review
- Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE.Rheumatology (Oxford, England) · 2023Article
- Evaluating a Causal Relationship between Complement Factor I Protein Level and Advanced Age-Related Macular Degeneration Using Mendelian Randomization.Ophthalmology science · 2022Article
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Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify rare genetic variants in early age-related macular degeneration (AMD) utilizing whole-exome sequencing (WES).
methodsEight non-related early-AMD families of different Jewish ethnicities were ascertained. Initial mutation screening (phase-1) included common
resultsPhase-1 identified three families carrying
conclusionsRare, high-penetrance variants have a profound contribution to early-AMD pathogenesis. Utilization of WES in genetic research of multifactorial diseases as AMD, allows a thorough comprehensive analysis with the identification of previously unreported rare variants.
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