Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

Por Soukarieh, Omar, Gaildrat, Pascaline, Hamieh, Mohamad, Drouet, Aurélie, Baert-Desurmont, Stéphanie, Frébourg, Thierry, Tosi, Mario, Martins, Alexandra
Publicado no PLoS Genet (2016)

Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

Por Soukarieh, Omar, Gaildrat, Pascaline, Hamieh, Mohamad, Drouet, Aurélie, Baert-Desurmont, Stéphanie, Frébourg, Thierry, Tosi, Mario, Martins, Alexandra
Publicado no PLoS Genet (2016)

Evaluation of Lynch syndrome modifier genes in 748 MMR mutation carriers

Por Houlle, Solene, Charbonnier, Françoise, Houivet, Estelle, Tinat, Julie, Buisine, Marie-Pierre, Caron, Olivier, Benichou, Jacques, Baert-Desurmont, Stéphanie, Frebourg, Thierry
Publicado em 2011

Reply to Talseth-Palmer et al

Por Houlle, Solene, Charbonnier, Françoise, Houivet, Estelle, Tinat, Julie, Buisine, Marie-Pierre, Caron, Olivier, Benichou, Jacques, Baert-Desurmont, Stéphanie, Frebourg, Thierry
Publicado em 2012

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

Por Grandval, Philippe, Fabre, Aurélie J., Gaildrat, Pascaline, Baert-Desurmont, Stéphanie, Buisine, Marie-Pierre, Ferrari, Anthony, Wang, Qing, Béroud, Christophe, Olschwang, Sylviane
Publicado em 2013

Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers

Por Olschwang, Sylviane, Yu, Kai, Lasset, Christine, Baert-Desurmont, Stéphanie, Buisine, Marie-Pierre, Wang, Qing, Hutter, Pierre, Rouleau, Etienne, Caron, Olivier, Bourdon, Violaine, Thomas, Gilles
Publicado em 2009

Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation

Por von Salomé, Jenny, Liu, Tao, Keihäs, Markku, Morak, Moni, Holinski-Feder, Elke, Berry, Ian R., Moilanen, Jukka S., Baert-Desurmont, Stéphanie, Lindblom, Annika, Lagerstedt-Robinson, Kristina
Publicado no Fam Cancer (2017)

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

Por 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
Publicado no Acta Neuropathol Commun (2019)

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes

Por Castéra, Laurent, Krieger, Sophie, Rousselin, Antoine, Legros, Angélina, Baumann, Jean-Jacques, Bruet, Olivia, Brault, Baptiste, Fouillet, Robin, Goardon, Nicolas, Letac, Olivier, Baert-Desurmont, Stéphanie, Tinat, Julie, Bera, Odile, Dugast, Catherine, Berthet, Pascaline, Polycarpe, Florence, Layet, Valérie, Hardouin, Agnes, Frébourg, Thierry, Vaur, Dominique
Publicado em 2014

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

Por 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
Publicado no Eur J Hum Genet (2018)

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

Por Leman, Raphaël, Tubeuf, Hélène, Raad, Sabine, Tournier, Isabelle, Derambure, Céline, Lanos, Raphaël, Gaildrat, Pascaline, Castelain, Gaia, Hauchard, Julie, Killian, Audrey, Baert-Desurmont, Stéphanie, Legros, Angelina, Goardon, Nicolas, Quesnelle, Céline, Ricou, Agathe, Castera, Laurent, Vaur, Dominique, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Boutry-Kryza, Nadia, Schultz, Inès, Caux-Moncoutier, Virginie, Rossing, Maria, Walker, Logan C., Spurdle, Amanda B., Houdayer, Claude, Martins, Alexandra, Krieger, Sophie
Publicado no BMC Genomics (2020)

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

Por 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
Publicado no Eur J Hum Genet (2020)

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

Por Baert-Desurmont, Stéphanie, Charbonnier, Françoise, Houivet, Estelle, Ippolito, Lorena, Mauillon, Jacques, Bougeard, Marion, Abadie, Caroline, Malka, David, Duffour, Jacqueline, Desseigne, Françoise, Colas, Chrystelle, Pujol, Pascal, Lejeune, Sophie, Dugast, Catherine, Buecher, Bruno, Faivre, Laurence, Leroux, Dominique, Gesta, Paul, Coupier, Isabelle, Guimbaud, Rosine, Berthet, Pascaline, Manouvrier, Sylvie, Cauchin, Estelle, Prieur, Fabienne, Laurent-Puig, Pierre, Lebrun, Marine, Jonveaux, Philippe, Chiesa, Jean, Caron, Olivier, Morin-Meschin, Marie-Emmanuelle, Polycarpe-Osaer, Florence, Giraud, Sophie, Zaanan, Aziz, Bonnet, Delphine, Mansuy, Ludovic, Bonadona, Valérie, El Chehadeh, Salima, Duhoux, François, Gauthier-Villars, Marion, Saurin, Jean-Christophe, Collonge-Rame, Marie- Agnès, Brugières, Laurence, Wang, Qing, Bressac-de Paillerets, Brigitte, Rey, Jean-Marc, Toulas, Christine, Buisine, Marie-Pierre, Bronner, Myriam, Sokolowska, Joanna, Hardouin, Agnès, Cailleux, Anne-Françoise, Sebaoui, Hakim, Blot, Julien, Tinat, Julie, Benichou, Jacques, Frebourg, Thierry
Publicado no Eur J Hum Genet (2016)