Luísa Coutinho Santos

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

Medicine, Genetics, Ophthalmology +17

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni et al. · Nature Communications · 2021 · 168 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The photoreceptor cell-specific nuclear receptor gene ( PNR ) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition

S. Gerber, Jean‐Michel Rozet, Shinichiro Takezawa et al. · Human Genetics · 2000 · 87 citations · Full text

Medicine, Genetics, Molecular Genetics +15

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis

Virginie G. Peter, Karolina Kamińska, Cristina Santos et al. · PNAS Nexus · 2023 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

New clinical and molecular evidence linking mutations in <i>ARSG</i> to Usher syndrome type IV

Virginie G. Peter, Mathieu Quinodoz, Silvia Sadio et al. · Human Mutation · 2020 · 41 citations

Life Sciences, Genetics, Molecular Genetics +16