Search Results - Fourneaux, Steeve

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  1. 1
    Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing

    Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing by 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

    Published in Scientific reports
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  2. 2
    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

    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 by Moisan, Alice, Soares, Anaïs, De Oliveira, Fabienne, Alessandri-Gradt, Elodie, Lecoquierre, François, Fourneaux, Steeve, Plantier, Jean-Christophe, Gueudin, Marie

    Published in Viruses
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  3. 3
    Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes

    Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes by 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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  4. 4
    High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders

    High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders by 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

    Published in Human genetics
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  5. 5
    Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

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

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  6. 6
    The MDM2 285G–309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome

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

    Published in Familial cancer
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