SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
Leman, Raphaël, Parfait, Béatrice, Vidaud, Dominique, Girodon, Emmanuelle, Pacot, Laurence, Le Gac, Gérald, Ka, Chandran, Ferec, Claude, Fichou, Yann, Quesnelle, Céline, Aucouturier, Camille, Muller, Etienne, Vaur, Dominique, Castera, Laurent, Boulouard, Flavie, Ricou, Agathe, Tubeuf, Hélène, Soukarieh, Omar, Gaildrat, Pascaline, Riant, Florence, Guillaud‐Bataille, Marine, Caputo, Sandrine M., Caux‐Moncoutier, Virginie, Boutry‐Kryza, Nadia, Bonnet‐Dorion, Françoise, Schultz, Ines, Rossing, Maria, Quenez, Olivier, Goldenberg, Louis, Harter, Valentin, Parsons, Michael T., Spurdle, Amanda B., Frébourg, Thierry, Martins, Alexandra, Houdayer, Claude, Krieger, Sophie
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
Houdayer, Claude, Caux-Moncoutier, Virginie, Krieger, Sophie, Barrois, Michel, Bonnet, Françoise, Bourdon, Violaine, Bronner, Myriam, Buisson, Monique, Coulet, Florence, Gaildrat, Pascaline, Lefol, Cédrick, Léone, Mélanie, Mazoyer, Sylvie, Muller, Danielle, Remenieras, Audrey, Révillion, Françoise, Rouleau, Etienne, Sokolowska, Joanna, Vert, Jean-Philippe, Lidereau, Rosette, Soubrier, Florent, Sobol, Hagay, Sevenet, Nicolas, Bressac-de Paillerets, Brigitte, Hardouin, Agnès, Tosi, Mario, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
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Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas
Manié, Elodie, Popova, Tatiana, Battistella, Aude, Tarabeux, Julien, Caux‐Moncoutier, Virginie, Golmard, Lisa, Smith, Nicholas K., Mueller, Christopher R., Mariani, Odette, Sigal‐Zafrani, Brigitte, Dubois, Thierry, Vincent‐Salomon, Anne, Houdayer, Claude, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri
Published in International journal of cancer (15.02.2016)
Published in International journal of cancer (15.02.2016)
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Evaluation of in silico splice tools for decision-making in molecular diagnosis
Houdayer, Claude, Dehainault, Catherine, Mattler, Christophe, Michaux, Dorothée, Caux-Moncoutier, Virginie, Pagès-Berhouet, Sabine, d'Enghien, Catherine Dubois, Laugé, Anthony, Castera, Laurent, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique
Published in Human mutation (01.07.2008)
Published in Human mutation (01.07.2008)
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Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement
Schwartz, Mathias, Ibadioune, Sabrina, Vacher, Sophie, Villy, Marie-Charlotte, Trabelsi-Grati, Olfa, Le Gall, Jessica, Caputo, Sandrine M., Delhomelle, Hélène, Warcoin, Mathilde, Moncoutier, Virginie, Bourneix, Christine, Boutry-Kryza, Nadia, De Pauw, Antoine, Stern, Marc-Henri, Buecher, Bruno, Mouret-Fourme, Emmanuelle, Colas, Chrystelle, Stoppa-Lyonnet, Dominique, Masliah-Planchon, Julien, Golmard, Lisa, Bieche, Ivan
Published in Breast (Edinburgh) (01.02.2024)
Published in Breast (Edinburgh) (01.02.2024)
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Germline BAP1 Mutations Predispose to Renal Cell Carcinomas
Popova, Tatiana, Hebert, Lucie, Jacquemin, Virginie, Gad, Sophie, Caux-Moncoutier, Virginie, Dubois-d’Enghien, Catherine, Richaudeau, Bénédicte, Renaudin, Xavier, Sellers, Jason, Nicolas, André, Sastre-Garau, Xavier, Desjardins, Laurence, Gyapay, Gabor, Raynal, Virginie, Sinilnikova, Olga M., Andrieu, Nadine, Manié, Elodie, de Pauw, Antoine, Gesta, Paul, Bonadona, Valérie, Maugard, Christine M., Penet, Clotilde, Avril, Marie-Françoise, Barillot, Emmanuel, Cabaret, Odile, Delattre, Olivier, Richard, Stéphane, Caron, Olivier, Benfodda, Meriem, Hu, Hui-Han, Soufir, Nadem, Bressac-de Paillerets, Brigitte, Stoppa-Lyonnet, Dominique, Stern, Marc-Henri
Published in American journal of human genetics (06.06.2013)
Published in American journal of human genetics (06.06.2013)
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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
Leman, Raphaël, Gaildrat, Pascaline, Gac, Gérald L, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Published in Nucleic acids research (06.09.2018)
Published in Nucleic acids research (06.09.2018)
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5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints
Caputo, Sandrine, Telly, Dominique, Briaux, Adrien, Sesen, Julie, Ceppi, Maurizio, Bonnet, Françoise, Bourdon, Violaine, Coulet, Florence, Castera, Laurent, Delnatte, Capucine, Hardouin, Agnès, Mazoyer, Sylvie, Schultz, Inès, Sevenet, Nicolas, Uhrhammer, Nancy, Bonnet, Céline, Tilkin-Mariamé, Anne-Françoise, Houdayer, Claude, Moncoutier, Virginie, Andrieu, Catherine, Bièche, Ivan, Stern, Marc-Henri, Stoppa-Lyonnet, Dominique, Lidereau, Rosette, Toulas, Christine, Rouleau, Etienne
Published in Cancers (25.06.2021)
Published in Cancers (25.06.2021)
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Loss of heterozygosity at 13q13 and 14q32 predicts BRCA2 inactivation in luminal breast carcinomas
Pécuchet, Nicolas, Popova, Tatiana, Manié, Elodie, Lucchesi, Carlo, Battistella, Aude, Vincent‐Salomon, Anne, Caux‐Moncoutier, Virginie, Bollet, Marc, Sigal‐Zafrani, Brigitte, Sastre‐Garau, Xavier, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri
Published in International journal of cancer (15.12.2013)
Published in International journal of cancer (15.12.2013)
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EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients
Caux-Moncoutier, Virginie, Castéra, Laurent, Tirapo, Carole, Michaux, Dorothée, Rémon, Marie-Alice, Laugé, Anthony, Rouleau, Etienne, De Pauw, Antoine, Buecher, Bruno, Gauthier-Villars, Marion, Viovy, Jean-Louis, Stoppa-Lyonnet, Dominique, Houdayer, Claude
Published in Human mutation (01.03.2011)
Published in Human mutation (01.03.2011)
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Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants
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
Published in BMC genomics (28.01.2020)
Published in BMC genomics (28.01.2020)
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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
Leman, Raphaël, Gaildrat, Pascaline, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude
Published in Nucleic acids research (20.02.2020)
Published in Nucleic acids research (20.02.2020)
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Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families
GAD, Sophie, CAUX-MONCOUTIER, Virginie, CHEVRIER, Annie, ROSSI, Annick, FRICKER, Jean-Pierre, TAN DAT NGUYEN, DEMANGE, Liliane, AURIAS, Alain, BENSIMON, Aaron, STOPPA-LYONNET, Dominique, PAGES-BERHOUET, Sabine, GAUTHIER-VILLARS, Marion, COUPIER, Isabelle, PUJOL, Pascal, FRENAY, Marc, GILBERT, Brigitte, MAUGARD, Christine, BIGNON, Yves-Jean
Published in Oncogene (03.10.2002)
Published in Oncogene (03.10.2002)
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Ploidy and Large-Scale Genomic Instability Consistently Identify Basal-like Breast Carcinomas with BRCA1/2 Inactivation
POPOVA, Tatiana, MANIE, Elodie, HOUDAYE, Claude, SASTRE-GARAU, Xavier, VINCENT-SALOMON, Anne, STOPPA-LYONNET, Dominique, STERN, Marc-Henri, RIEUNIER, Guillaume, CAUX-MONCOUTIER, Virginie, TIRAPO, Carole, DUBOIS, Thierry, DELATTRE, Olivier, SIGAL-ZAFRANI, Brigitte, BOLLET, Marc, LONGY, Michel
Published in Cancer research (Chicago, Ill.) (01.11.2012)
Published in Cancer research (Chicago, Ill.) (01.11.2012)
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Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees
Schwartz, Mathias, Ibadioune, Sabrina, Chansavang, Albain, Vacher, Sophie, Caputo, Sandrine M, Delhomelle, Hélène, Wong, Jennifer, Abidallah, Khadija, Moncoutier, Virginie, Becette, Véronique, Popova, Tatiana, Suybeng, Voreak, De Pauw, Antoine, Stern, Marc-Henri, Colas, Chrystelle, Mouret-Fourme, Emmanuelle, Stoppa-Lyonnet, Dominique, Golmard, Lisa, Bieche, Ivan, Masliah-Planchon, Julien
Published in Journal of medical genetics (01.03.2024)
Published in Journal of medical genetics (01.03.2024)
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APC germline pathogenic variants and epithelial ovarian cancer: causal or coincidental findings?
Vibert, Roseline, Le Gall, Jessica, Buecher, Bruno, Mouret-Fourme, Emmanuelle, Bataillon, Guillaume, Becette, Véronique, Trabelsi-Grati, Olfa, Moncoutier, Virginie, Dehainault, Catherine, Carriere, Jennifer, Schwartz, Mathias, Suybeng, Voreak, Bieche, Ivan, Colas, Chrystelle, Vincent-Salomon, Anne, Stoppa-Lyonnet, Dominique, Golmard, Lisa
Published in Journal of medical genetics (01.05.2023)
Published in Journal of medical genetics (01.05.2023)
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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
Caputo, Sandrine M., Damiola, Francesca, Revillion, Françoise, Derive, Nicolas, Buisson, Adrien, Basset, Noémie, Schwartz, Mathias, Vilquin, Paul, Garrec, Celine, Privat, Maud, Gay-Bellile, Mathilde, Allary, Anne-Sophie, Belotti, Muriel, Benigni, Charlotte, Benusiglio, Patrick R., Berthet, Pascaline, Bézieau, Stéphane, Bidart, Marie, Bignon, Yves-Jean, Blanluet, Maud, Bloucard, Amelie, Bonnet, Françoise, Boulaire, Manon, Bouras, Ahmed, Brahimi, Afane, Bubien, Virginie, Chieze-Valéro, Stephanie, Cohen-Haguenauer, Odile, Collonge-Rame, Marie-Agnès, Coupier, Isabelle, Crivelli, Louise, Cusin, Véronica, De Pauw, Antoine, Delhomelle, Hélène, Demontety, Sophie, Denizeau, Philippe, Dreyfus, Helene, d’Enghein, Catherine Dubois, Dupré, Anaïs, Durlach, Anne, Dussart, Sophie, Fajac, Anne, Fert-Ferrer, Sandra, Fiévet, Alice, Fouillet, Robin, Mouret-Fourme, Emmanuelle, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Gladieff, Laurence, Goussot, Vincent, Guibert, Virginie, Guillerm, Erell, Guy, Christophe, Hardouin, Agnès, Ingster, Olivier, Jacquot-Sawka, Caroline, Jones, Natalie, Krieger, Sophie, Lacoste, Sofiane, Lallaoui, Hakima, Larbre, Helene, Laugé, Anthony, Le Mentec, Marine, Lecerf, Caroline, Le Gall, Jessica, Legros, Angélina, Lignon, Norbert, Doriane Livon, Lortholary, Alain, Mailliez, Audrey, Malsa, Sarah, Maugard, Christine, Menjard, Julie, Molière, Diane, Moncoutier, Virginie, Moretta-Serra, Jessica, Muller, Etienne, Nguyen Minh Tuan, Thien-vu, Noguchi, Tetsuro, Oca, Florine, Popovici, Cornel, Prieur, Fabienne, Raad, Sabine, Ricou, Agathe, Salle, Lucie, Saule, Claire, Sevenet, Nicolas, Suybeng, Voreak, Tennevet, Isabelle, Tenreiro, Henrique, Tinat, Julie, Toulas, Christine, Vande Perre, Pierre, Vaur, Dominique, Villy, Marie-Charlotte, Yvard, Alice, Zattara, Helene, Caron, Olivier, Boutry-Kryza, Nadia
Published in American journal of human genetics (07.10.2021)
Published in American journal of human genetics (07.10.2021)
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Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer
Davy, Grégoire, Rousselin, Antoine, Goardon, Nicolas, Castéra, Laurent, Harter, Valentin, Legros, Angelina, Muller, Etienne, Fouillet, Robin, Brault, Baptiste, Smirnova, Anna S, Lemoine, Fréderic, de la Grange, Pierre, Guillaud-Bataille, Marine, Caux-Moncoutier, Virginie, Houdayer, Claude, Bonnet, Françoise, Blanc-Fournier, Cécile, Gaildrat, Pascaline, Frebourg, Thierry, Martins, Alexandra, Vaur, Dominique, Krieger, Sophie
Published in European journal of human genetics : EJHG (01.10.2017)
Published in European journal of human genetics : EJHG (01.10.2017)
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Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers
Golmard, Lisa, Castéra, Laurent, Krieger, Sophie, Moncoutier, Virginie, Abidallah, Khadija, Tenreiro, Henrique, Laugé, Anthony, Tarabeux, Julien, Millot, Gael A, Nicolas, André, Laé, Marick, Abadie, Caroline, Berthet, Pascaline, Polycarpe, Florence, Frébourg, Thierry, Elan, Camille, de Pauw, Antoine, Gauthier-Villars, Marion, Buecher, Bruno, Stern, Marc-Henri, Stoppa-Lyonnet, Dominique, Vaur, Dominique, Houdayer, Claude
Published in European journal of human genetics : EJHG (01.12.2017)
Published in European journal of human genetics : EJHG (01.12.2017)
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Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12
Meulemans, Laëtitia, Mesman, Romy L S, Caputo, Sandrine M, Krieger, Sophie, Guillaud-Bataille, Marine, Caux-Moncoutier, Virginie, Léone, Mélanie, Boutry-Kryza, Nadia, Sokolowska, Johanna, Révillion, Françoise, Delnatte, Capucine, Tubeuf, Hélène, Soukarieh, Omar, Bonnet-Dorion, Françoise, Guibert, Virginie, Bronner, Myriam, Bourdon, Violaine, Lizard, Sarab, Vilquin, Paul, Privat, Maud, Drouet, Aurélie, Grout, Charlotte, Calléja, Fabienne M G R, Golmard, Lisa, Vrieling, Harry, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Frebourg, Thierry, Vreeswijk, Maaike P G, Martins, Alexandra, Gaildrat, Pascaline
Published in Cancer research (Chicago, Ill.) (01.04.2020)
Published in Cancer research (Chicago, Ill.) (01.04.2020)
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