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

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

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

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

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

by 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
Published 2013

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

by 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
Published 2011

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

by 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
Published in Nat Genet (2015)