Search Results - "Royer Bertrand, Béryl"

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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Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother by Royer‐Bertrand, Beryl, Lebon, Sébastien, Craig, Ailsa, Maeder, Johanna, Mittaz‐Crettol, Laureane, Fodstad, Heidi, Superti‐Furga, Andrea, Good, Jean‐Marc

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CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures by Royer‐Bertrand, Beryl, Cisarova, Katarina, Niel Bütschi, Florence, Foletti, Giovanni, Guinchat, Vincent, Tran, Christel, Superti‐Furga, Andrea, Good, Jean‐Marc

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NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina by Segarra, Nuria Garcia, Ballhausen, Diana, Crawford, Heather, Perreau, Matthieu, Campos-Xavier, Belinda, van Spaendonck-Zwarts, Karin, Vermeer, Cees, Russo, Michel, Zambelli, Pierre-Yves, Stevenson, Brian, Royer-Bertrand, Beryl, Rivolta, Carlo, Candotti, Fabio, Unger, Sheila, Munier, Francis L., Superti-Furga, Andrea, Bonafé, Luisa

“…We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in…”
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Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant by Royer‐Bertrand, Béryl, Tsouni, Pinelopi, Mullen, Patrick, Campos Xavier, Belinda, Mittaz Crettol, Lauréane, Lobrinus, Alexander J., Ghika, Joseph, Baumgartner, Matthias R., Rivolta, Carlo, Superti‐Furga, Andrea, Kuntzer, Thierry, Francklyn, Christopher, Tran, Christel

“…Background A 49‐year‐old male presented with late‐onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed…”
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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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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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UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation by Rivolta, Carlo, Royer-Bertrand, Beryl, Rimoldi, Donata, Schalenbourg, Ann, Zografos, Leonidas, Leyvraz, Serge, Moulin, Alexandre

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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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Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease by Bonafé, Luisa, Kariminejad, Ariana, Li, Jia, Royer‐Bertrand, Beryl, Garcia, Virginie, Mahdavi, Shokouholsadat, Bozorgmehr, Bita, Lachman, Ralph L., Mittaz‐Crettol, Lauréane, Campos‐Xavier, Belinda, Nampoothiri, Sheela, Unger, Sheila, Rivolta, Carlo, Levade, Thierry, Superti‐Furga, Andrea

“…Objective To establish a diagnosis and provide counseling and treatment for 3 adult patients from one family presenting with peripheral osteolysis. Methods…”
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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures by Royer-Bertrand, Beryl, Jequier Gygax, Marine, Cisarova, Katarina, Rosenfeld, Jill A, Bassetti, Jennifer A, Moldovan, Oana, O'Heir, Emily, Burrage, Lindsay C, Allen, Jake, Emrick, Lisa T, Eastman, Emma, Kumps, Camille, Abbas, Safdar, Van Winckel, Geraldine, Chabane, Nadia, Zackai, Elaine H, Lebon, Sebastien, Keena, Beth, Bhoj, Elizabeth J, Umair, Muhammad, Li, Dong, Donald, Kirsten A, Superti-Furga, Andrea

“…De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with…”
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Next generation sequencing : a diagnostic tool for inherited immune defects by Droz-Georget, Stéphanie, Riccio, Orbicia, Royer-Bertrand, Béryl, Superti-Furga, Andrea, Candotti, Fabio

“…Establishing the definitive diagnosis in the case of inherited immune defects (IID) is often challenging because the clinical features can be heterogeneous,…”
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DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders by Quinodoz, Mathieu, Royer-Bertrand, Beryl, Cisarova, Katarina, Di Gioia, Silvio Alessandro, Superti-Furga, Andrea, Rivolta, Carlo

“…In contrast to recessive conditions with biallelic inheritance, identification of dominant (monoallelic) mutations for Mendelian disorders is more difficult,…”
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Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer by Royer-Bertrand, Beryl, Rivolta, Carlo

“…The past decade has seen the emergence of next-generation sequencing (NGS) technologies, which have revolutionized the field of human molecular genetics. With…”
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CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations by Royer-Bertrand, Beryl, Cisarova, Katarina, Niel-Butschi, Florence, Mittaz-Crettol, Laureane, Fodstad, Heidi, Superti-Furga, Andrea

“…To assess the potential of detecting copy number variations (CNVs) directly from exome sequencing (ES) data in diagnostic settings, we developed a…”
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Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing by Royer-Bertrand, Beryl, Torsello, Matteo, Rimoldi, Donata, El Zaoui, Ikram, Cisarova, Katarina, Pescini-Gobert, Rosanna, Raynaud, Franck, Zografos, Leonidas, Schalenbourg, Ann, Speiser, Daniel, Nicolas, Michael, Vallat, Laureen, Klein, Robert, Leyvraz, Serge, Ciriello, Giovanni, Riggi, Nicolò, Moulin, Alexandre P., Rivolta, Carlo

“…Uveal melanoma (UM) is a rare intraocular tumor that, similar to cutaneous melanoma, originates from melanocytes. To gain insights into its genetics, we…”
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Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator by Allou, Lila, Balzano, Sara, Magg, Andreas, Quinodoz, Mathieu, Royer-Bertrand, Beryl, Schöpflin, Robert, Chan, Wing-Lee, Speck-Martins, Carlos E., Carvalho, Daniel Rocha, Farage, Luciano, Lourenço, Charles Marques, Albuquerque, Regina, Rajagopal, Srilakshmi, Nampoothiri, Sheela, Campos-Xavier, Belinda, Chiesa, Carole, Niel-Bütschi, Florence, Wittler, Lars, Timmermann, Bernd, Spielmann, Malte, Robson, Michael I., Ringel, Alessa, Heinrich, Verena, Cova, Giulia, Andrey, Guillaume, Prada-Medina, Cesar A., Pescini-Gobert, Rosanna, Unger, Sheila, Bonafé, Luisa, Grote, Phillip, Rivolta, Carlo, Mundlos, Stefan, Superti-Furga, Andrea

“…Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory networks 1 , but the exact nature and extent of their involvement in human…”
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NANS-mediated synthesis of sialic acid is required for brain and skeletal development by van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine, Donnai, Dian, Cormier-Daire, Valérie, Heron, Delphine, Nishimura, Gen, Uchikawa, Shinichi, Campos-Xavier, Belinda, Rossi, Antonio, Hennet, Thierry, Brand-Arzamendi, Koroboshka, Rozmus, Jacob, Harshman, Keith, Stevenson, Brian J, Girardi, Enrico, Superti-Furga, Giulio, Dewan, Tammie, Collingridge, Alissa, Halparin, Jessie, Ross, Colin J, Van Allen, Margot I, Rossi, Andrea, Engelke, Udo F, Kluijtmans, Leo A J, van der Heeft, Ed, Renkema, Herma, de Brouwer, Arjan, Huijben, Karin, Zijlstra, Fokje, Heise, Torben, Boltje, Thomas, Wasserman, Wyeth W, Rivolta, Carlo, Unger, Sheila, Lefeber, Dirk J, Wevers, Ron A, Superti-Furga, Andrea

“…Andrea Superti-Furga, Ron Wevers, Clara van Karnebeek, Luisa Bonafé and colleagues identify mutations in NANS , which encodes the sialic acid synthase, in nine…”
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EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay by Volpi, Stefano, Yamazaki, Yasuhiro, Brauer, Patrick M, van Rooijen, Ellen, Hayashida, Atsuko, Slavotinek, Anne, Sun Kuehn, Hye, Di Rocco, Maja, Rivolta, Carlo, Bortolomai, Ileana, Du, Likun, Felgentreff, Kerstin, Ott de Bruin, Lisa, Hayashida, Kazutaka, Freedman, George, Marcovecchio, Genni Enza, Capuder, Kelly, Rath, Prisni, Luche, Nicole, Hagedorn, Elliott J, Buoncompagni, Antonella, Royer-Bertrand, Beryl, Giliani, Silvia, Poliani, Pietro Luigi, Imberti, Luisa, Dobbs, Kerry, Poulain, Fabienne E, Martini, Alberto, Manis, John, Linhardt, Robert J, Bosticardo, Marita, Rosenzweig, Sergio Damian, Lee, Hane, Puck, Jennifer M, Zúñiga-Pflücker, Juan Carlos, Zon, Leonard, Park, Pyong Woo, Superti-Furga, Andrea, Notarangelo, Luigi D

“…We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense…”
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Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia by Royer-Bertrand, Beryl, Castillo-Taucher, Silvia, Moreno-Salinas, Rodrigo, Cho, Tae-Joon, Chae, Jong-Hee, Choi, Murim, Kim, Ok-Hwa, Dikoglu, Esra, Campos-Xavier, Belinda, Girardi, Enrico, Superti-Furga, Giulio, Bonafé, Luisa, Rivolta, Carlo, Unger, Sheila, Superti-Furga, Andrea

“…We and others have reported mutations in LONP1 , a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular,…”
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