Search Results - "Quinodoz, Mathieu"

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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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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CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels by Gonçalves, André Brás, Hasselbalch, Sarah Kirstine, Joensen, Beinta Biskopstø, Patzke, Sebastian, Martens, Pernille, Ohlsen, Signe Krogh, Quinodoz, Mathieu, Nikopoulos, Konstantinos, Suleiman, Reem, Damsø Jeppesen, Magnus Per, Weiss, Catja, Christensen, Søren Tvorup, Rivolta, Carlo, Andersen, Jens S, Farinelli, Pietro, Pedersen, Lotte Bang

“…CEP78 is a centrosomal protein implicated in ciliogenesis and ciliary length control, and mutations in the CEP78 gene cause retinal cone-rod dystrophy…”
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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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Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies by Salmaninejad, Arash, Bedoni, Nicola, Ravesh, Zeinab, Quinodoz, Mathieu, Shoeibi, Nasser, Mojarrad, Majid, Pasdar, Alireza, Rivolta, Carlo

“…Inherited retinal dystrophies (IRDs), displaying pronounced genetic and clinical heterogeneity, comprise of a broad range of diseases characterized by…”
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Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase by Bibert, Stéphanie, Quinodoz, Mathieu, Perriot, Sylvain, Krebs, Fanny S., Jan, Maxime, Malta, Rita C., Collinet, Emilie, Canales, Mathieu, Mathias, Amandine, Faignart, Nicole, Roulet-Perez, Eliane, Meylan, Pascal, Brouillet, René, Opota, Onya, Lozano-Calderon, Leyder, Fellmann, Florence, Guex, Nicolas, Zoete, Vincent, Asner, Sandra, Rivolta, Carlo, Du Pasquier, Renaud, Bochud, Pierre-Yves

“…Encephalitis is a rare and potentially fatal manifestation of herpes simplex type 1 infection. Following genome-wide genetic analyses, we identified a…”
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Herpes simplex encephalitis in adult patients with MASP-2 deficiency by Bibert, Stéphanie, Piret, Jocelyne, Quinodoz, Mathieu, Collinet, Emilie, Zoete, Vincent, Michielin, Olivier, Menasria, Rafik, Meylan, Pascal, Bihl, Titus, Erard, Véronique, Fellmann, Florence, Rivolta, Carlo, Boivin, Guy, Bochud, Pierre-Yves

“…We report here two cases of Herpes simplex virus encephalitis (HSE) in adult patients with very rare, previously uncharacterized, non synonymous heterozygous…”
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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy by Nikopoulos, Konstantinos, Cisarova, Katarina, Quinodoz, Mathieu, Koskiniemi-Kuendig, Hanna, Miyake, Noriko, Farinelli, Pietro, Rehman, Atta Ur, Khan, Muhammad Imran, Prunotto, Andrea, Akiyama, Masato, Kamatani, Yoichiro, Terao, Chikashi, Miya, Fuyuki, Ikeda, Yasuhiro, Ueno, Shinji, Fuse, Nobuo, Murakami, Akira, Wada, Yuko, Terasaki, Hiroko, Sonoda, Koh-Hei, Ishibashi, Tatsuro, Kubo, Michiaki, Cremers, Frans P. M., Kutalik, Zoltán, Matsumoto, Naomichi, Nishiguchi, Koji M., Nakazawa, Toru, Rivolta, Carlo

“…Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen…”
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An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs by Bedoni, Nicola, Quinodoz, Mathieu, Pinelli, Michele, Cappuccio, Gerarda, Torella, Annalaura, Nigro, Vincenzo, Testa, Francesco, Simonelli, Francesca, Corton, Marta, Lualdi, Susanna, Lanza, Federica, Morana, Giovanni, Ayuso, Carmen, Di Rocco, Maja, Filocamo, Mirella, Banfi, Sandro, Brunetti-Pierri, Nicola, Superti-Furga, Andrea, Rivolta, Carlo

“…Abstract We investigated the genetic origin of the phenotype displayed by three children from two unrelated Italian families, presenting with a previously…”
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Characteristic bimodal profiles of RNA polymerase II at thousands of active mammalian promoters by Quinodoz, Mathieu, Gobet, Cédric, Naef, Felix, Gustafson, Kyle B

“…In mammals, ChIP-seq studies of RNA polymerase II (PolII) occupancy have been performed to reveal how recruitment, initiation and pausing of PolII may control…”
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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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Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients by Bibert, Stéphanie, Guex, Nicolas, Lourenco, Joao, Brahier, Thomas, Papadimitriou-Olivgeris, Matthaios, Damonti, Lauro, Manuel, Oriol, Liechti, Robin, Götz, Lou, Tschopp, Jonathan, Quinodoz, Mathieu, Vollenweider, Peter, Pagani, Jean-Luc, Oddo, Mauro, Hügli, Olivier, Lamoth, Frédéric, Erard, Véronique, Voide, Cathy, Delorenzi, Mauro, Rufer, Nathalie, Candotti, Fabio, Rivolta, Carlo, Boillat-Blanco, Noémie, Bochud, Pierre-Yves

“…The reason why most individuals with COVID-19 have relatively limited symptoms while other develop respiratory distress with life-threatening complications…”
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Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis by Fregni, Giulia, Quinodoz, Mathieu, Möller, Emely, Vuille, Joanna, Galland, Sabine, Fusco, Carlo, Martin, Patricia, Letovanec, Igor, Provero, Paolo, Rivolta, Carlo, Riggi, Nicolo, Stamenkovic, Ivan

“…Metastasis is a multi-step process in which direct crosstalk between cancer cells and their microenvironment plays a key role. Here, we assessed the effect of…”
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Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature by Bastos, Filipa, Quinodoz, Mathieu, Addor, Marie-Claude, Royer-Bertrand, Beryl, Fodstad, Heidi, Rivolta, Carlo, Poloni, Claudia, Superti-Furga, Andrea, Roulet-Perez, Eliane, Lebon, Sebastien

“…A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of…”
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GNB1-Related Rod-Cone Dystrophy: A Case Report by Conti, Giovanni Marco, Cancellieri, Francesca, Quinodoz, Mathieu, Kaminska, Karolina, Vaclavik, Veronika, Rivolta, Carlo, Tran, Hoai Viet

“…Abstract Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are…”
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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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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa by Bocquet, Béatrice, Borday, Caroline, Erkilic, Nejla, Mamaeva, Daria, Donval, Alicia, Masson, Christel, Parain, Karine, Kaminska, Karolina, Quinodoz, Mathieu, Perea-Romero, Irene, Garcia-Garcia, Gema, Jimenez-Medina, Carla, Boukhaddaoui, Hassan, Coget, Arthur, Leboucq, Nicolas, Calzetti, Giacomo, Gandolfi, Stefano, Percesepe, Antonio, Barili, Valeria, Uliana, Vera, Delsante, Marco, Bozzetti, Francesca, Scholl, Hendrik Pn, Corton, Marta, Ayuso, Carmen, Millan, Jose M, Rivolta, Carlo, Meunier, Isabelle, Perron, Muriel, Kalatzis, Vasiliki

“…Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We…”
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Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype by Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, Catherina H. Z., Heaton, Robert A., Reurink, Janine, Bellingham, James, Quinodoz, Mathieu, Yioti, Georgia, Stefaniotou, Maria, Weener, Marianna, Zuleger, Theresia, Haack, Tobias B., Stingl, Katarina, Hoyng, Carel B., Mahroo, Omar A., Hargreaves, Iain, Raymond, F. Lucy, Michaelides, Michel, Rivolta, Carlo, Kohl, Susanne, Roosing, Susanne, Webster, Andrew R., Arno, Gavin

“…The aim of this study was to investigate coenzyme Q10 (CoQ 10 ) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited…”
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Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome by Panagiotou, Evangelia S., Papathomas, Thomas, Nikopoulos, Konstantinos, Koukoula, Stavrenia, Quinodoz, Mathieu, Rehman, Atta Ur, Giannopoulos, Theodoros, Rivolta, Carlo, Konstas, Anastasios G.

“…Introduction Full-thickness macular hole (FTMH) formation is rarely seen in patients with retinitis pigmentosa (RP) and can have an adverse impact on their…”
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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 the PISD 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

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