Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all tumor types von Lebofsky, Ronald, Decraene, Charles, Bernard, Virginie, Kamal, Maud, Blin, Anthony, Leroy, Quentin, Rio Frio, Thomas, Pierron, Gaëlle, Callens, Céline, Bieche, Ivan, Saliou, Adrien, Madic, Jordan, Rouleau, Etienne, Bidard, François-Clément, Lantz, Olivier, Stern, Marc-Henri, Le Tourneau, Christophe, Pierga, Jean-Yves

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Multi-factor data normalization enables the detection of copy number aberrations in amplicon sequencing data von Boeva, Valentina, Popova, Tatiana, Lienard, Maxime, Toffoli, Sebastien, Kamal, Maud, Le Tourneau, Christophe, Gentien, David, Servant, Nicolas, Gestraud, Pierre, Rio Frio, Thomas, Hupé, Philippe, Barillot, Emmanuel, Laes, Jean-François

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Frequent Somatic Mutation in Adult Intestinal Stem Cells Drives Neoplasia and Genetic Mosaicism during Aging von Siudeja, Katarzyna, Nassari, Sonya, Gervais, Louis, Skorski, Patricia, Lameiras, Sonia, Stolfa, Donato, Zande, Maria, Bernard, Virginie, Frio, Thomas Rio, Bardin, Allison J.

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Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay von Rio Frio, Thomas, Wade, Nicholas M, Ransijn, Adriana, Berson, Eliot L, Beckmann, Jacques S, Rivolta, Carlo

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Breakpoint features of genomic rearrangements in neuroblastoma with unbalanced translocations and chromothripsis von Boeva, Valentina, Jouannet, Stéphanie, Daveau, Romain, Combaret, Valérie, Pierre-Eugène, Cécile, Cazes, Alex, Louis-Brennetot, Caroline, Schleiermacher, Gudrun, Ferrand, Sandrine, Pierron, Gaëlle, Lermine, Alban, Rio Frio, Thomas, Raynal, Virginie, Vassal, Gilles, Barillot, Emmanuel, Delattre, Olivier, Janoueix-Lerosey, Isabelle

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Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations von Frio, Thomas Rio, Civic, Natacha, Ransijn, Adriana, Beckmann, Jacques S., Rivolta, Carlo

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Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations von Rivolta, Carlo, McGee, Terri L., Frio, Thomas Rio, Jensen, Roderick V., Berson, Eliot L., Dryja, Thaddeus P.

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Circulating tumor DNA and circulating tumor cells in metastatic triple negative breast cancer patients von Madic, Jordan, Kiialainen, Anna, Bidard, Francois‐Clement, Birzele, Fabian, Ramey, Guillemette, Leroy, Quentin, Frio, Thomas Rio, Vaucher, Isabelle, Raynal, Virginie, Bernard, Virginie, Lermine, Alban, Clausen, Inga, Giroud, Nicolas, Schmucki, Roland, Milder, Maud, Horn, Carsten, Spleiss, Olivia, Lantz, Olivier, Stern, Marc‐Henri, Pierga, Jean‐Yves, Weisser, Martin, Lebofsky, Ronald

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Emergence of new ALK mutations at relapse of neuroblastoma von Schleiermacher, Gudrun, Javanmardi, Niloufar, Bernard, Virginie, Leroy, Quentin, Cappo, Julie, Rio Frio, Thomas, Pierron, Gaelle, Lapouble, Eve, Combaret, Valérie, Speleman, Frank, de Wilde, Bram, Djos, Anna, Ora, Ingrid, Hedborg, Fredrik, Träger, Catarina, Holmqvist, Britt-Marie, Abrahamsson, Jonas, Peuchmaur, Michel, Michon, Jean, Janoueix-Lerosey, Isabelle, Kogner, Per, Delattre, Olivier, Martinsson, Tommy

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DICER1 Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors von 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, Bouron-Dal Soglio, Dorothée, Arseneau, Jocelyne, Schultz, Kris Ann, Priest, John R, Nguyen, Van-Hung, Harach, H. Rubén, Livingston, David M, Foulkes, William D, Tischkowitz, Marc

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Deep Sequencing Reveals Occurrence of Subclonal ALK Mutations in Neuroblastoma at Diagnosis von Bellini, Angela, Bernard, Virginie, Leroy, Quentin, Rio Frio, Thomas, Pierron, Gaelle, Combaret, Valérie, Lapouble, Eve, Clement, Nathalie, Rubie, Herve, Thebaud, Estelle, Chastagner, Pascal, Defachelles, Anne Sophie, Bergeron, Christophe, Buchbinder, Nimrod, Taque, Sophie, Auvrignon, Anne, Valteau-Couanet, Dominique, Michon, Jean, Janoueix-Lerosey, Isabelle, Delattre, Olivier, Schleiermacher, Gudrun

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Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families von Frio, Thomas Rio, Haanpää, Maria, Pouchet, Carly, Pylkäs, Katri, Vuorela, Mikko, Tischkowitz, Marc, Winqvist, Robert, Foulkes, William D

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Germline DICER1 mutations and familial cystic nephroma von Bahubeshi, Amin, Bal, Nebil, Rio Frio, Thomas, Hamel, Nancy, Pouchet, Carly, Yilmaz, Ahmet, Bouron-Dal Soglio, Dorothée, Williams, Gretchen M, Tischkowitz, Marc, Priest, John R, Foulkes, William D

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Homozygous BUB1B Mutation and Susceptibility to Gastrointestinal Neoplasia von Rio Frio, Thomas, Lavoie, Josée, Hamel, Nancy, Geyer, Felipe C, Kushner, Yaël B, Novak, David J, Wark, Landon, Capelli, Cristian, Reis-Filho, Jorge S, Mai, Sabine, Pastinen, Tomi, Tischkowitz, Marc D, Marcus, Victoria A, Foulkes, William D

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single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance von Frio, Thomas Rio, McGee, Terri L, Wade, Nicholas M, Iseli, Christian, Beckmann, Jacques S, Berson, Eliot L, Rivolta, Carlo

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Designs and challenges for personalized medicine studies in oncology: focus on the SHIVA trial von Le Tourneau, Christophe, Kamal, Maud, Trédan, Olivier, Delord, Jean-Pierre, Campone, Mario, Goncalves, Anthony, Isambert, Nicolas, Conroy, Thierry, Gentien, David, Vincent-Salomon, Anne, Pouliquen, Anne-Lise, Servant, Nicolas, Stern, Marc-Henri, Le Corroller, Anne-Gaëlle, Armanet, Sébastien, Rio Frio, Thomas, Paoletti, Xavier

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A scoring strategy combining statistics and functional genomics supports a possible role for common polygenic variation in autism von Carayol, Jérôme, Schellenberg, Gerard D, Dombroski, Beth, Amiet, Claire, Génin, Bérengère, Fontaine, Karine, Rousseau, Francis, Vazart, Céline, Cohen, David, Frazier, Thomas W, Hardan, Antonio Y, Dawson, Geraldine, Rio Frio, Thomas

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Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa von Rio Frio, Thomas, Panek, Sylwia, Iseli, Christian, Di Gioia, Silvio Alessandro, Kumar, Arun, Gal, Andreas, Rivolta, Carlo

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Mechanical induction of the tumorigenic β-catenin pathway by tumour growth pressure von Fernández-Sánchez, María Elena, Barbier, Sandrine, Whitehead, Joanne, Béalle, Gaëlle, Michel, Aude, Latorre-Ossa, Heldmuth, Rey, Colette, Fouassier, Laura, Claperon, Audrey, Brullé, Laura, Girard, Elodie, Servant, Nicolas, Rio-Frio, Thomas, Marie, Hélène, Lesieur, Sylviane, Housset, Chantal, Gennisson, Jean-Luc, Tanter, Mickaël, Ménager, Christine, Fre, Silvia, Robine, Sylvie, Farge, Emmanuel

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Mechanical induction of the tumorigenic b-catenin pathway by tumour growth pressure von Fernandez-Sanchez, Maria Elena, Barbier, Sandrine, Whitehead, Joanne, Bealle, Gaelle, Michel, Aude, Latorre-Ossa, Heldmuth, Rey, Colette, Fouassier, Laura, Claperon, Audrey, Brullé, Laura, Girard, Elodie, Servant, Nicolas, Rio-Frio, Thomas, Marie, Helene, Lesieur, Sylviane, Housset, Chantal, Gennisson, Jean-Luc, Tanter, Mickaël, Menager, Christine, Fre, Silvia, Robine, Sylvie, Farge, Emmanuel

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