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 no J Hum Genet (2016)

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 no BMC Genomics (2014)

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 no Sci Rep (2015)

Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing

Por 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
Publicado no Am J Hum Genet (2016)

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

Por Nikopoulos, Konstantinos, Farinelli, Pietro, Giangreco, Basilio, Tsika, Chrysanthi, Royer-Bertrand, Beryl, Mbefo, Martial K., Bedoni, Nicola, Kjellström, Ulrika, El Zaoui, Ikram, Di Gioia, Silvio Alessandro, Balzano, Sara, Cisarova, Katarina, Messina, Andrea, Decembrini, Sarah, Plainis, Sotiris, Blazaki, Styliani V., Khan, Muhammad Imran, Micheal, Shazia, Boldt, Karsten, Ueffing, Marius, Moulin, Alexandre P., Cremers, Frans P.M., Roepman, Ronald, Arsenijevic, Yvan, Tsilimbaris, Miltiadis K., Andréasson, Sten, Rivolta, Carlo
Publicado no Am J Hum Genet (2016)

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 no J Exp Med (2017)