Eduardo Silva

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel, Virginie Laurier, Erica E. Davis et al. · Nature Genetics · 2006 · 284 citations

Protein Function, Vertebrate-specific Chaperonin-like Protein, Protein Folding +9

Genetic basis of total colourblindness among the Pingelapese islanders

Olof Sundin, Jun-Ming Yang, Yingying Li et al. · Nature Genetics · 2000 · 241 citations

Genetic Diversity, Pingelapese Islanders, Molecular Ecology +8

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Isabelle Perrault, Sophie Saunier, Sylvain Hanein et al. · The American Journal of Human Genetics · 2012 · 214 citations · Full text

Mainzer-saldino Syndrome, Mendelian Disorder, Genetic Disorder +5

Extreme hyperopia is the result of null mutations in<i>MFRP</i>, which encodes a Frizzled-related protein

Olof Sundin, Gregory S. Leppert, Eduardo Silva et al. · Proceedings of the National Academy of Sciences · 2005 · 193 citations · Full text

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Isabelle Perrault, Sylvain Hanein, Xavier Zanlonghi et al. · Nature Genetics · 2012 · 144 citations

Ocular Disease, Mendelian Disorder, Ophthalmology +8