UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation

por Rivolta, Carlo, Royer-Bertrand, Beryl, Rimoldi, Donata, Schalenbourg, Ann, Zografos, Leonidas, Leyvraz, Serge, Moulin, Alexandre
Publicado 2016

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

por Royer-Bertrand, Beryl, Cisarova, Katarina, Niel-Butschi, Florence, Mittaz-Crettol, Laureane, Fodstad, Heidi, Superti-Furga, Andrea
Publicado 2021

Functional chromatin features are associated with structural mutations in cancer

por Grzeda, Krzysztof R, Royer-Bertrand, Beryl, Inaki, Koichiro, Kim, Hyunsoo, Hillmer, Axel M, Liu, Edison T, Chuang, Jeffrey H
Publicado 2014

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

por Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo
Publicado 2022

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

por Bastos, Filipa, Quinodoz, Mathieu, Addor, Marie-Claude, Royer-Bertrand, Beryl, Fodstad, Heidi, Rivolta, Carlo, Poloni, Claudia, Superti-Furga, Andrea, Roulet-Perez, Eliane, Lebon, Sebastien
Publicado 2020

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

por 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
Publicado 2019

Genomic and transcriptomic landscape of conjunctival melanoma

por 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
Publicado 2020

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

por 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, Sousa, Ana Berta, Coutinho Santos, Luisa, Superti-Furga, Andrea, Rivolta, Carlo
Publicado 2021

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

por 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
Publicado 2015

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

por 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
Publicado 2021

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

por 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.
Publicado 2017