Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo
Published in American journal of human genetics (03.03.2022)
Published in American journal of human genetics (03.03.2022)
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Journal Article
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
Quinodoz, Mathieu, Peter, Virginie G, Bedoni, Nicola, Royer Bertrand, Béryl, Cisarova, Katarina, Salmaninejad, Arash, Sepahi, Neda, Rodrigues, Raquel, Piran, Mehran, Mojarrad, Majid, Pasdar, Alireza, Ghanbari Asad, Ali, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Santos, Maria Luisa, Superti-Furga, Andrea, Rivolta, Carlo
Published in Nature communications (22.01.2021)
Published in Nature communications (22.01.2021)
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Journal Article
Genomic and transcriptomic landscape of conjunctival melanoma
Cisarova, Katarina, Folcher, Marc, El Zaoui, Ikram, Pescini-Gobert, Rosanna, Peter, Virginie G, Royer-Bertrand, Beryl, Zografos, Leonidas, Schalenbourg, Ann, Nicolas, Michael, Rimoldi, Donata, Leyvraz, Serge, Riggi, Nicolò, Moulin, Alexandre P, Rivolta, Carlo
Published in PLoS genetics (31.12.2020)
Published in PLoS genetics (31.12.2020)
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Journal Article
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice
Moye, Abigail R, Bedoni, Nicola, Cunningham, Jessica G, Sanzhaeva, Urikhan, Tucker, Eric S, Mathers, Peter, Peter, Virginie G, Quinodoz, Mathieu, Paris, Liliana P, Coutinho-Santos, Luísa, Camacho, Pedro, Purcell, Madeleine G, Winkelmann, Abbie C, Foster, James A, Pugacheva, Elena N, Rivolta, Carlo, Ramamurthy, Visvanathan
Published in PLoS genetics (19.08.2019)
Published in PLoS genetics (19.08.2019)
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Journal Article
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies
Rehman, Atta Ur, Sepahi, Neda, Bedoni, Nicola, Ravesh, Zeinab, Salmaninejad, Arash, Cancellieri, Francesca, Peter, Virginie G., Quinodoz, Mathieu, Mojarrad, Majid, Pasdar, Alireza, Asad, Ali Ghanbari, Ghalamkari, Saman, Piran, Mehran, Piran, Mehrdad, Superti-Furga, Andrea, Rivolta, Carlo
Published in Scientific reports (29.09.2021)
Published in Scientific reports (29.09.2021)
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Journal Article
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV
Peter, Virginie G., Quinodoz, Mathieu, Sadio, Silvia, Held, Sebastian, Rodrigues, Márcia, Soares, Marta, Sousa, Ana Berta, Coutinho Santos, Luisa, Damme, Markus, Rivolta, Carlo
Published in Human mutation (01.03.2021)
Published in Human mutation (01.03.2021)
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Journal Article
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV
Peter, Virginie G., Quinodoz, Mathieu, Sadio, Silvia, Held, Sebastian, Rodrigues, Márcia, Soares, Marta, Sousa, Ana Berta, Santos, Luisa Coutinho, Damme, Markus, Rivolta, Carlo
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Journal Article
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene
Peter, Virginie G, Quinodoz, Mathieu, Pinto-Basto, Jorge, Sousa, Sergio B, Di Gioia, Silvio Alessandro, Soares, Gabriela, Ferraz Leal, Gabriela, Silva, Eduardo D, Pescini Gobert, Rosanna, Miyake, Noriko, Matsumoto, Naomichi, Engle, Elizabeth C, Unger, Sheila, Shapiro, Frederic, Superti-Furga, Andrea, Rivolta, Carlo, Campos-Xavier, Belinda
Published in Genetics in medicine (01.12.2019)
Published in Genetics in medicine (01.12.2019)
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Journal Article
Genetic profile of syndromic retinitis pigmentosa in Portugal
Cortinhal, Telmo, Santos, Cristina, Vaz-Pereira, Sara, Marta, Ana, Duarte, Lilianne, Miranda, Vitor, Costa, José, Sousa, Ana Berta, Peter, Virginie G., Kaminska, Karolina, Rivolta, Carlo, Carvalho, Ana Luísa, Saraiva, Jorge, Soares, Célia Azevedo, Silva, Rufino, Murta, Joaquim, Santos, Luísa Coutinho, Marques, João Pedro
Published in Graefe's archive for clinical and experimental ophthalmology (01.06.2024)
Published in Graefe's archive for clinical and experimental ophthalmology (01.06.2024)
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Journal Article
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads
Quinodoz, Mathieu, Kaminska, Karolina, Cancellieri, Francesca, Han, Ji Hoon, Peter, Virginie G., Celik, Elifnaz, Janeschitz-Kriegl, Lucas, Schärer, Nils, Hauenstein, Daniela, György, Bence, Calzetti, Giacomo, Hahaut, Vincent, Custódio, Sónia, Sousa, Ana Cristina, Wada, Yuko, Murakami, Yusuke, Fernández, Almudena Avila, Hernández, Cristina Rodilla, Minguez, Pablo, Ayuso, Carmen, Nishiguchi, Koji M., Santos, Cristina, Santos, Luisa Coutinho, Tran, Viet H., Vaclavik, Veronika, Scholl, Hendrik P.N., Rivolta, Carlo
Published in American journal of human genetics (04.04.2024)
Published in American journal of human genetics (04.04.2024)
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Journal Article
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy
Santos, Cristina, Almeida, Andreia, Pinto, Rita, Kaminska, Karolina, Peter, Virginie G., Sousa, Ana-Berta, Rivolta, Carlo, Coutinho-Santos, Luísa
Published in Ophthalmic genetics (04.07.2022)
Published in Ophthalmic genetics (04.07.2022)
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Journal Article
A novel phenotype associated with the R162W variant in the KCNJ13 gene
Schroeder, Marion, Peter, Virginie G, Gränse, Lotta, Andréasson, Sten, Rivolta, Carlo, Kjellström, Ulrika
Published in Ophthalmic genetics (04.07.2022)
Published in Ophthalmic genetics (04.07.2022)
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Journal Article
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa
Rehman, Atta Ur, Peter, Virginie G, Quinodoz, Mathieu, Dawood, Muhammad, Rivolta, Carlo
Published in Clinical dysmorphology (01.04.2020)
Published in Clinical dysmorphology (01.04.2020)
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Journal Article
Investigating the Ocular Surface Microbiome: What Can It Tell Us?
Peter, Virginie G, Morandi, Sophia C, Herzog, Elio L, Zinkernagel, Martin S, Zysset-Burri, Denise C
Published in Clinical ophthalmology (Auckland, N.Z.) (01.01.2023)
Published in Clinical ophthalmology (Auckland, N.Z.) (01.01.2023)
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Journal Article
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants
Lebon, Sébastien, Quinodoz, Mathieu, Peter, Virginie G, Gengler, Carole, Blanchard, Gaëlle, Cina, Viviane, Campos-Xavier, Belinda, Rivolta, Carlo, Superti-Furga, Andrea
Published in Genes (10.09.2021)
Published in Genes (10.09.2021)
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Journal Article
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
Peter, Virginie G, Kaminska, Karolina, Santos, Cristina, Quinodoz, Mathieu, Cancellieri, Francesca, Cisarova, Katarina, Pescini Gobert, Rosanna, Rodrigues, Raquel, Custódio, Sónia, Paris, Liliana P, Sousa, Ana Berta, Coutinho Santos, Luisa, Rivolta, Carlo
Published in PNAS nexus (01.03.2023)
Published in PNAS nexus (01.03.2023)
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Journal Article
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene
Atallah, Isis, Quinodoz, Mathieu, Campos‐Xavier, Belinda, Peter, Virginie G., Fouriki, Athina, Bonvin, Christophe, Bottani, Armand, Kumps, Camille, Angelini, Federica, Bellutti Enders, Felicitas, Christen‐Zaech, Stéphanie, Rizzi, Mattia, Renella, Raffaele, Beck‐Popovic, Maja, Poloni, Claudia, Frossard, Valérie, Blouin, Jean‐Louis, Rivolta, Carlo, Riccio, Orbicia, Candotti, Fabio, Hofer, Michael, Unger, Sheila, Superti‐Furga, Andrea
Published in Clinical genetics (01.06.2021)
Published in Clinical genetics (01.06.2021)
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Journal Article
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
Peter, Virginie G, Nikopoulos, Konstantinos, Quinodoz, Mathieu, Granse, Lotta, Farinelli, Pietro, Superti-Furga, Andrea, Andréasson, Sten, Rivolta, Carlo
Published in Ophthalmic genetics (04.03.2019)
Published in Ophthalmic genetics (04.03.2019)
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Journal Article
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4
Rehman, Atta Ur, Peter, Virginie G, Quinodoz, Mathieu, Rashid, Abdur, Khan, Syed Akhtar, Superti-Furga, Andrea, Rivolta, Carlo
Published in Genes (21.12.2019)
Published in Genes (21.12.2019)
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Journal Article
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Sangermano, Riccardo, Deitch, Iris, Peter, Virginie G., Ba-Abbad, Rola, Place, Emily M., Zampaglione, Erin, Wagner, Naomi E., Fulton, Anne B., Coutinho-Santos, Luisa, Rosin, Boris, Dunet, Vincent, AlTalbishi, Ala’a, Banin, Eyal, Sousa, Ana Berta, Neves, Mariana, Larson, Anna, Quinodoz, Mathieu, Michaelides, Michel, Ben-Yosef, Tamar, Pierce, Eric A., Rivolta, Carlo, Webster, Andrew R., Arno, Gavin, Sharon, Dror, Huckfeldt, Rachel M., Bujakowska, Kinga M.
Published in Npj genomic medicine (29.06.2021)
Published in Npj genomic medicine (29.06.2021)
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Journal Article