Virginie G. Peter

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 · 159 citations · Full text

Genetics, Genetic Epidemiology, Pathology +23

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova et al. · The American Journal of Human Genetics · 2022 · 82 citations · Full text

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

Virginie G. Peter, Mathieu Quinodoz, Jorge Pinto‐Basto et al. · Genetics in Medicine · 2019 · 48 citations · Full text

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 · 43 citations · Full text

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 · 37 citations

Neurodegenerative Diseases, Usher Syndrome, Mendelian Disorder +13