Giuliana Silvestri

A common haplotype in the complement regulatory gene factor H ( <i>HF1/CFH</i> ) predisposes individuals to age-related macular degeneration

Gregory S. Hageman, Don H. Anderson, Lincoln V. Johnson et al. · Proceedings of the National Academy of Sciences · 2005 · 1.9K citations · Full text

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Lars G. Fritsche, Wilmar Igl, Jessica N. Cooke Bailey et al. · Nature Genetics · 2015 · 1.6K citations · Full text

Genome-wide Association Study, Ocular Disease, Ophthalmology +6

Seven new loci associated with age-related macular degeneration

Lars G. Fritsche, Wei Chen, Matthew Schu et al. · Nature Genetics · 2013 · 790 citations · Full text

Ocular Disease, Ophthalmology, Age-related Diseases +3

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Edwin M. Stone, Andrew Lotery, Francis L. Munier et al. · Nature Genetics · 1999 · 491 citations

Ocular Disease, Retinal Dystrophy, Ophthalmology +8

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Feng Wang, Hui Wang, Han-Fang Tuan et al. · Human Genetics · 2013 · 235 citations

Molecular Diagnostic Techniques, Retinitis Pigmentosa, Genetics +10