Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa

par Frio, Thomas Rio, Panek, Sylwia, Iseli, Christian, Di Gioia, Silvio Alessandro, Kumar, Arun, Gal, Andreas, Rivolta, Carlo
Publié 2009

Frequent Somatic Mutation in Adult Intestinal Stem Cells Drives Neoplasia and Genetic Mosaicism during Aging

par Siudeja, Katarzyna, Nassari, Sonya, Gervais, Louis, Skorski, Patricia, Lameiras, Sonia, Stolfa, Donato, Zande, Maria, Bernard, Virginie, Frio, Thomas Rio, Bardin, Allison J.
Publié dans Cell Stem Cell (2015)

Breakpoint Features of Genomic Rearrangements in Neuroblastoma with Unbalanced Translocations and Chromothripsis

par Boeva, Valentina, Jouannet, Stéphanie, Daveau, Romain, Combaret, Valérie, Pierre-Eugène, Cécile, Cazes, Alex, Louis-Brennetot, Caroline, Schleiermacher, Gudrun, Ferrand, Sandrine, Pierron, Gaëlle, Lermine, Alban, Frio, Thomas Rio, Raynal, Virginie, Vassal, Gilles, Barillot, Emmanuel, Delattre, Olivier, Janoueix-Lerosey, Isabelle
Publié 2013

DICER1 mutations in Familial Multi-Nodular Goiter with and without Ovarian Sertoli-Leydig Cell Tumors

par Frio, Thomas Rio, Bahubeshi, Amin, Kanellopoulou, Chryssa, Hamel, Nancy, Niedziela, Marek, Sabbaghian, Nelly, Pouchet, Carly, Gilbert, Lucy, O’Brien, Paul K., Serfas, Kim, Broderick, Peter, Houlston, Richard S., Lesueur, Fabienne, Bonora, Elena, Muljo, Stefan, Schimke, R. Neil, Soglio, Dorothée Bouron-Dal, Arseneau, Jocelyne, Schultz, Kris Ann, Priest, John R., Nguyen, Van-Hung, Harach, H. Ruben, Livingston, David M., Foulkes, William D., Tischkowitz, Marc
Publié 2011

Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite

par Grünewald, Thomas G. P., Bernard, Virginie, Gilardi-Hebenstreit, Pascale, Raynal, Virginie, Surdez, Didier, Aynaud, Marie-Ming, Mirabeau, Olivier, Cidre-Aranaz, Florencia, Tirode, Franck, Zaidi, Sakina, Perot, Gaëlle, Jonker, Anneliene H., Lucchesi, Carlo, Le Deley, Marie-Cécile, Oberlin, Odile, Marec-Bérard, Perrine, Véron, Amélie S., Reynaud, Stephanie, Lapouble, Eve, Boeva, Valentina, Frio, Thomas Rio, Alonso, Javier, Bhatia, Smita, Pierron, Gaëlle, Cancel-Tassin, Geraldine, Cussenot, Olivier, Cox, David G., Morton, Lindsay M., Machiela, Mitchell J., Chanock, Stephen J., Charnay, Patrick, Delattre, Olivier
Publié dans Nat Genet (2015)