Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas

по Goldenberg, Alice, Marguet, Florent, Gilard, Vianney, Cardine, Aude-Marie, Hassani, Adnan, Doz, François, Radi, Sophie, Vasseur, Stéphanie, Bou, Jacqueline, Branchaud, Maud, Houdayer, Claude, Baert-Desurmont, Stéphanie, Laquerriere, Annie, Frebourg, Thierry
Опубликовано в: Acta Neuropathol Commun (2019)

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes

по 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
Опубликовано в: Eur J Hum Genet (2018)

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

по 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
Опубликовано в: Eur J Hum Genet (2020)