Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing von Lecoquierre, François, Cassinari, Kévin, Drouot, Nathalie, May, Angèle, Fourneaux, Steeve, Charbonnier, Francoise, Derambure, Celine, Coutant, Sophie, Saugier-Veber, Pascale, Hoischen, Alexander, Charbonnier, Camille, Nicolas, Gaël

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Evaluation of Analytical and Clinical Performance and Usefulness in a Real-Life Hospital Setting of Two in-House Real-Time RT-PCR Assays to Track SARS-CoV-2 Variants of Concern von Moisan, Alice, Soares, Anaïs, De Oliveira, Fabienne, Alessandri-Gradt, Elodie, Lecoquierre, François, Fourneaux, Steeve, Plantier, Jean-Christophe, Gueudin, Marie

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Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes von Baert-Desurmont, Stéphanie, Coutant, Sophie, Charbonnier, Françoise, Macquere, Pierre, Lecoquierre, François, Schwartz, Mathias, Blanluet, Maud, Vezain, Myriam, Lanos, Raphaël, Quenez, Olivier, Bou, Jacqueline, Bouvignies, Emilie, Fourneaux, Steeve, Manase, Sandrine, Vasseur, Stéphanie, Mauillon, Jacques, Gerard, Marion, Marlin, Régine, Bougeard, Gaëlle, Tinat, Julie, Frebourg, Thierry, Tournier, Isabelle

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High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders von Lecoquierre, François, Quenez, Olivier, Fourneaux, Steeve, Coutant, Sophie, Vezain, Myriam, Rolain, Marion, Drouot, Nathalie, Boland, Anne, Olaso, Robert, Meyer, Vincent, Deleuze, Jean-François, Dabbagh, Dana, Gilles, Isabelle, Gayet, Claire, Saugier-Veber, Pascale, Goldenberg, Alice, Guerrot, Anne-Marie, Nicolas, Gaël

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Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation von Quenez, Olivier, Cassinari, Kevin, Coutant, Sophie, Lecoquierre, Francois, Le Guennec, Kilan, Rousseau, Stephane, Richard, Anne-Claire, Vasseur, Stephanie, Bouvignies, Emilie, Bou, Jacqueline, Lienard, Gwendoline, Manase, Sandrine, Fourneaux, Steeve, Drouot, Nathalie, Nguyen-Viet, Virginie, Vezain, Myriam, Chambon, Pascal, Joly-Helas, Geraldine, Le Meur, Nathalie, Castelain, Mathieu, Boland, Anne, Deleuze, Jean-Francois, Tournier, Isabelle, Charbonnier, Francoise, Kasper, Edwige, Bougeard, Gaelle, Frebourg, Thierry, Saugier-Veber, Pascale, Baert-Desurmont, Stephanie, Campion, Dominique, Rovelet-Lecrux, Anne, Nicolas, Gael

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The MDM2 285G–309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome von Renaux-Petel, Mariette, Sesboüé, Richard, Baert-Desurmont, Stéphanie, Vasseur, Stéphanie, Fourneaux, Steeve, Bessenay, Emilie, Frébourg, Thierry, Bougeard, Gaëlle

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