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 2020

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

por Caputo, Sandrine M., Léone, Mélanie, Damiola, Francesca, Ehlen, Asa, Carreira, Aura, Gaidrat, Pascaline, Martins, Alexandra, Brandão, Rita D., Peixoto, Ana, Vega, Ana, Houdayer, Claude, Delnatte, Capucine, Bronner, Myriam, Muller, Danièle, Castera, Laurent, Guillaud-Bataille, Marine, Søkilde, Inge, Uhrhammer, Nancy, Demontety, Sophie, Tubeuf, Hélène, Castelain, Gaïa, Jensen, Uffe Birk, Petitalot, Ambre, Krieger, Sophie, Lefol, Cédrick, Moncoutier, Virginie, Boutry-Kryza, Nadia, Nielsen, Henriette Roed, Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Spurdle, Amanda B., Teixeira, Manuel R., Coulet, Florence, Thomassen, Mads, Rouleau, Etienne
Publicado 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

por 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
Publicado 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

por 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, Paillerets, Brigitte Bressac-de, 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
Publicado 2018

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

por 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
Publicado 2020