Search Results - "Peter, Virginie G"

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity by Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo

“…We used a machine learning approach to analyze the within-gene distribution of missense variants observed in hereditary conditions and cancer. When applied to…”
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AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data by 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

“…© The Author(s) 2021. Open AccessThis article is licensed under a Creative CommonsAttribution 4.0 International License, which permits use, sharing,adaptation,…”
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Genomic and transcriptomic landscape of conjunctival melanoma by 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

“…Conjunctival melanoma (CJM) is a rare but potentially lethal and highly-recurrent cancer of the eye. Similar to cutaneous melanoma (CM), it originates from…”
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Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice by 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

“…Cilia are evolutionarily conserved hair-like structures with a wide spectrum of key biological roles, and their dysfunction has been linked to a growing class…”
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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies by 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

“…Inherited retinal dystrophies (IRDs) constitute one of the most heterogeneous groups of Mendelian human disorders. Using autozygome-guided next-generation…”
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New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV by Peter, Virginie G., Quinodoz, Mathieu, Sadio, Silvia, Held, Sebastian, Rodrigues, Márcia, Soares, Marta, Sousa, Ana Berta, Coutinho Santos, Luisa, Damme, Markus, Rivolta, Carlo

“…In murine and canine animal models, mutations in the Arylsulfatase G gene (ARSG) cause a particular lysosomal storage disorder characterized by neurological…”
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New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV by Peter, Virginie G., Quinodoz, Mathieu, Sadio, Silvia, Held, Sebastian, Rodrigues, Márcia, Soares, Marta, Sousa, Ana Berta, Santos, Luisa Coutinho, Damme, Markus, Rivolta, Carlo

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

“…We observed four individuals in two unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural…”
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Genetic profile of syndromic retinitis pigmentosa in Portugal by 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

“…Purpose Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20–30% of patients…”
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Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads by 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

“…Copy-number variants (CNVs) play a substantial role in the molecular pathogenesis of hereditary disease and cancer, as well as in normal human interindividual…”
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A novel phenotype associated with the R162W variant in the KCNJ13 gene by Schroeder, Marion, Peter, Virginie G, Gränse, Lotta, Andréasson, Sten, Rivolta, Carlo, Kjellström, Ulrika

“…Pathogenic variants in 3 have been associated with both autosomal dominant Snowflake vitreoretinal degeneration (SVD) and autosomal recessive Leber congenital…”
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Anisometropia and asymmetric ABCA4-related cone-rod dystrophy by Santos, Cristina, Almeida, Andreia, Pinto, Rita, Kaminska, Karolina, Peter, Virginie G., Sousa, Ana-Berta, Rivolta, Carlo, Coutinho-Santos, Luísa

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Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa by Rehman, Atta Ur, Peter, Virginie G., Quinodoz, Mathieu, Dawood, Muhammad, Rivolta, Carlo

“…Dystrophic epidermolysis bullosa is a major form of epidermolysis bullosa and may be inherited as an autosomal dominant or recessive trait, with associated…”
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Investigating the Ocular Surface Microbiome: What Can It Tell Us? by Peter, Virginie G, Morandi, Sophia C, Herzog, Elio L, Zinkernagel, Martin S, Zysset-Burri, Denise C

“…While pathogens of the eye have been studied for a very long time, the existence of resident microbes on the surface of healthy eyes has gained interest only…”
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Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants by Lebon, Sébastien, Quinodoz, Mathieu, Peter, Virginie G, Gengler, Carole, Blanchard, Gaëlle, Cina, Viviane, Campos-Xavier, Belinda, Rivolta, Carlo, Superti-Furga, Andrea

“…We studied a family in which the first-born child, a girl, had developmental delay, facial dysmorphism, and agenesis of the corpus callosum (ACC). The…”
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Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene by 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

“…Four individuals from two families presented with a multisystemic condition of suspected genetic origin that was diagnosed only after genome analysis. The main…”
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The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis by 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

“…Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an elevated genetic and clinical heterogeneity. They are transmitted almost…”
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A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa by Peter, Virginie G, Nikopoulos, Konstantinos, Quinodoz, Mathieu, Granse, Lotta, Farinelli, Pietro, Superti-Furga, Andrea, Andréasson, Sten, Rivolta, Carlo

“…Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity…”
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Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4 by Rehman, Atta Ur, Peter, Virginie G, Quinodoz, Mathieu, Rashid, Abdur, Khan, Syed Akhtar, Superti-Furga, Andrea, Rivolta, Carlo

“…Variants in more than 271 different genes have been linked to hereditary retinal diseases, making comprehensive genomic approaches mandatory for accurate…”
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Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD by 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.

“…Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing…”
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