Virginie G Peter

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 14

Top Topics

Psychometric Properties

Age Related Macular Degeneration

Top Venues

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Ophthalmic genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 262 (6) (2024)
Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 262 (6) (2024)
Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 262 (6) (2024)
Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 262 (6) (2024)
Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2024)
Virginie G Peter, Karolina Kaminska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana-Berta Sousa, Luísa Coutinho Santos, Carlo Rivolta
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus 2 (3) (2023)
Virginie G Peter, Karolina Kaminska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana-Berta Sousa, Luísa Coutinho Santos, Carlo Rivolta
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus 2 (3) (2023)
Cristina Santos, Andreia Almeida, Rita Pinto, Karolina Kaminska, Virginie G Peter, Ana-Berta Sousa, Carlo Rivolta, Luísa Coutinho Santos
Anisometropia and asymmetric ABCA4 -related cone-rod dystrophy. Ophthalmic genetics 43 (4) (2022)
Marion Schroeder, Virginie G Peter, Lotta Gränse, Sten Andréasson, Carlo Rivolta, Ulrika Kjellström
A novel phenotype associated with the R162W variant in the KCNJ13 gene. Ophthalmic genetics 43 (4) (2022)
Mathieu Quinodoz, Virginie G Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbariasad, Ana Berta Sousa, Luísa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data. Nature communications 12 (1) (2021)
Katarina Cisarova, Marc Folcher, Ikram El Zaoui, Rosanna Pescini Gobert, Virginie G Peter, Beryl Royer-Bertrand, Leonidas Zografos, Ann Schalenbourg, Michael Nicolas, Donata Rimoldi, Serge Leyvraz, Nicolò Riggi, Alexandre P Moulin, Carlo Rivolta
Genomic and transcriptomic landscape of conjunctival melanoma. PLoS genetics 16 (12) (2020)
Abigail R Moye, Nicola Bedoni, Jessica G Cunningham, Urikhan Sanzhaeva, Eric S Tucker, Peter Mathers, Virginie G Peter, Mathieu Quinodoz, Liliana P Paris, Luísa Coutinho Santos, Pedro Camacho, Madeleine G Purcell, Abbie C Winkelmann, James A Foster, Elena N Pugacheva, Carlo Rivolta, Visvanathan Ramamurthy
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. PLoS genetics 15 (8) (2019)
Virginie G Peter, Konstantinos Nikopoulos, Mathieu Quinodoz, Lotta Granse, Pietro Farinelli, Andrea Superti-Furga, Sten Andréasson, Carlo Rivolta
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. Ophthalmic genetics 40 (2) (2019)
Virginie G Peter, Mathieu Quinodoz, Jorge Pinto-Basto, Sergio B Sousa, Silvio Alessandro Di Gioia, Gabriela Soares, Gabriela Ferraz Leal, Eduardo D Silva, Rosanna Pescini Gobert, Noriko Miyake, Naomichi Matsumoto, Elizabeth C Engle, Sheila Unger, Frederic Shapiro, Andrea Superti-Furga, Carlo Rivolta, Belinda Campos-Xavier
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene. Genetics in medicine : official journal of the American College of Medical Genetics 21 (12) (2019)