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SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing Leman, Raphael; Parfait, Beatrice; Vidaud, Dominique; Girodon, Emmanuelle; Pacot, Laurence; Le Gac, Gerald; Ka, Chandran; Ferec, Claude; Fichou, Yann; Quesnelle, Celine; Aucouturier, Camille; Muller, Etienne; Vaur, Dominique; Castera, Laurent; Boulouard, Flavie; Ricou, Agathe; Tubeuf, Helene; Soukarieh, Omar; Gaildrat, Pascaline; Riant, Florence; Guillaud-Bataille, Marine; Caputo, Sandrine M.; Caux-Moncoutier, Virginie; Boutry-Kryza, Nadia; Bonnet-Dorion, Francoise; Schultz, Ines; Rossing, Maria; Quenez, Olivier; Goldenberg, Louis; Harter, Valentin; Parsons, Michael T.; Spurdle, Amanda B.; Frebourg, Thierry; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie Share Save
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations Meulemans, Laetitia; Desurmont, Stephanie Baert; Waill, Marie-Christine; Castelain, Gaia; Killian, Audrey; Hauchard, Julie; Frebourg, Thierry; Coulet, Florence; Martins, Alexandra; Muleris, Martine; Gaildrat, Pascaline Share Save
Gastrointestinal stromal tumours: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up Casali, P. G.; Blay, J. Y.; Abecassis, N.; Bajpai, J.; Bauer, S.; Biagini, R.; Bielack, S.; Bonvalot, S.; Boukovinas, I; Bovee, J. V. M. G.; Boye, K.; Brodowicz, T.; Buonadonna, A.; De Alava, E.; Dei Tos, A. P.; Del Muro, X. G.; Dufresne, A.; Eriksson, M.; Fedenko, A.; Ferraresi, V; Ferrari, A.; Frezza, A. M.; Gasperoni, S.; Gelderblom, H.; Gouin, F.; Grignani, G.; Haas, R.; Hassan, A. B.; Hindi, N.; Hohenberger, P.; Joensuu, H.; Jones, R. L.; Jungels, C.; Jutte, P.; Kasper, B.; Kawai, A.; Kopeckova, K.; Krakorova, D. A.; Le Cesne, A.; Le Grange, F.; Legius, E.; Leithner, A.; Lopez-Pousa, A.; Martin-Broto, J.; Merimsky, O.; Messiou, C.; Miah, A. B.; Mir, O.; Montemurro, M.; Morosi, C.; Palmerini, E.; Pantaleo, M. A.; Piana, R.; Piperno-Neumann, S.; Reichardt, P.; Rutkowski, P.; Safwat, A. A.; Sangalli, C.; Sbaraglia, M.; Scheipl, S.; Schoffski, P.; Sleijfer, S.; Strauss, D.; Strauss, S. J.; Hall, K. Sundby; Trama, A.; Unk, M.; van de Sande, M. A. J.; van der Graaf, W. T. A.; van Houdt, W. J.; Frebourg, T.; Gronchi, A.; Stacchiotti, S. Share Save
Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease Rovelet-Lecrux, Anne; Feuillette, Sebastien; Miguel, Laetitia; Schramm, Catherine; Pernet, Segolene; Quenez, Olivier; Segalas-Milazzo, Isabelle; Guilhaudis, Laure; Rousseau, Stephane; Riou, Gaetan; Frebourg, Thierry; Campion, Dominique; Nicolas, Gael; Lecourtois, Magalie Share Save
Bone sarcomas: ESMO-EURACAN-GENTURIS-ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up Strauss, S. J.; Frezza, A. M.; Abecassis, N.; Bajpai, J.; Bauer, S.; Biagini, R.; Bielack, S.; Blay, J. Y.; Bolle, S.; Bonvalot, S.; Boukovinas, I; Bovee, J. V. M. G.; Boye, K.; Brennan, B.; Brodowicz, T.; Buonadonna, A.; de Alava, E.; Dei Tos, A. P.; Del Muro, X. Garcia; Dufresne, A.; Eriksson, M.; Fagioli, F.; Fedenko, A.; Ferraresi, V; Ferrari, A.; Gaspar, N.; Gasperoni, S.; Gelderblom, H.; Gouin, F.; Grignani, G.; Gronchi, A.; Haas, R.; Hassan, A. B.; Hecker-Nolting, S.; Hindi, N.; Hohenberger, P.; Joensuu, H.; Jones, R. L.; Jungels, C.; Jutte, P.; Kager, L.; Kasper, B.; Kawai, A.; Kopeckova, K.; Krakorova, D. A.; Le Cesne, A.; Le Grange, F.; Legius, E.; Leithner, A.; Pousa, A. Lopez; Martin-Broto, J.; Merimsky, O.; Messiou, C.; Miah, A. B.; Mir, O.; Montemurro, M.; Morland, B.; Morosi, C.; Palmerini, E.; Pantaleo, M. A.; Piana, R.; Piperno-Neumann, S.; Reichardt, P.; Rutkowski, P.; Safwat, A. A.; Sangalli, C.; Sbaraglia, M.; Scheipl, S.; Schoffski, P.; Sleijfer, S.; Strauss, D.; Hall, K. Sundby; Trama, A.; Unk, M.; van de Sande, M. A. J.; van der Graaf, W. T. A.; van Houdt, W. J.; Frebourg, T.; Ladenstein, R.; Casali, P. G.; Stacchiotti, S. Share Save
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects Coursimault, Juliette; Guerrot, Anne-Marie; Morrow, Michelle M.; Schramm, Catherine; Zamora, Francisca Millan; Shanmugham, Anita; Liu, Shuxi; Zou, Fanggeng; Bilan, Frederic; Le Guyader, Gwenael; Bruel, Ange-Line; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Mau-Them, Frederic Tran; Tessarech, Marine; Colin, Estelle; El Chehadeh, Salima; Gerard, Benedicte; Schaefer, Elise; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Doummar, Diane; Valence, Stephanie; Heron, Delphine; Keren, Boris; Mignot, Cyril; Coutton, Charles; Devillard, Francoise; Alaix, Anne-Sophie; Amiel, Jeanne; Colleaux, Laurence; Munnich, Arnold; Poirier, Karine; Rio, Marlene; Rondeau, Sophie; Barcia, Giulia; Callewaert, Bert; Dheedene, Annelies; Kumps, Candy; Vergult, Sarah; Menten, Bjoern; Chung, Wendy K.; Hernan, Rebecca; Larson, Austin; Nori, Kelly; Stewart, Sarah; Wheless, James; Kresge, Christina; Pletcher, Beth A.; Caumes, Roseline; Smol, Thomas; Sigaudy, Sabine; Coubes, Christine; Helm, Margaret; Smith, Rosemarie; Morrison, Jennifer; Wheeler, Patricia G.; Kritzer, Amy; Jouret, Guillaume; Afenjar, Alexandra; Deleuze, Jean-Francois; Olaso, Robert; Boland, Anne; Poitou, Christine; Frebourg, Thierry; Houdayer, Claude; Saugier-Veber, Pascale; Nicolas, Gael; Lecoquierre, Francois Share Save
Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up Gronchi, A.; Miah, A. B.; DeiTos, A. P.; Abecassis, N.; Bajpai, J.; Bauer, S.; Biagini, R.; Bielack, S.; Blay, J. Y.; Bolle, S.; Bonvalot, S.; Boukovinas, I; Bovee, J. V. M. G.; Boye, K.; Brennan, B.; Brodowicz, T.; Buonadonna, A.; De Alava, E.; Del Muro, X. G.; Dufresne, A.; Eriksson, M.; Fagioli, F.; Fedenko, A.; Ferraresi, V; Ferrari, A.; Frezza, A. M.; Gasperoni, S.; Gelderblom, H.; Gouin, F.; Grignani, G.; Haas, R.; Hassan, A. B.; Hecker-Nolting, S.; Hindi, N.; Hohenberger, P.; Joensuu, H.; Jones, R. L.; Jungels, C.; Jutte, P.; Kager, L.; Kasper, B.; Kawai, A.; Kopeckova, K.; Krakorova, D. A.; Le Cesne, A.; LeGrange, F.; Legius, E.; Leithner, A.; Lopez-Pousa, A.; Martin-Broto, J.; Merimsky, O.; Messiou, C.; Mir, O.; Montemurro, M.; Morland, B.; Morosi, C.; Palmerini, E.; Pantaleo, M. A.; Piana, R.; Piperno-Neumann, S.; Reichardt, P.; Rutkowski, P.; Safwat, A. A.; Sangalli, C.; Sbaraglia, M.; Scheipl, S.; Schoffski, P.; Sleijfer, S.; Strauss, D.; Strauss, S.; SundbyHall, K.; Trama, A.; Unk, M.; VandeSande, M. A. J.; VanderGraaf, W. T. A.; van Houdt, W. J.; Frebourg, T.; Casali, P. G.; Stacchiotti, S. Share Save
Circulating DNA changes are predictive of disease progression after transarterial chemoembolization Sefrioui, David; Verdier, Vincent; Savoye-Collet, Celine; Beaussire, Ludivine; Ghomadi, Slim; Gangloff, Alice; Goria, Odile; Riachi, Ghassan; Montialoux, Helene; Schwarz, Lilian; Tuech, Jean-Jacques; Frebourg, Thierry; Michel, Pierre; Sarafan-Vasseur, Nasrin; Di Fiore, Frederic Share Save
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation Ribeiro Guerra, Maximiliano; Coignard, Juliette; Eon-Marchais, Severine; Dondon, Marie-Gabrielle; Le Gal, Dorothee; Beauvallet, Juana; Mebirouk, Noura; Belotti, Muriel; Caron, Olivier; Gauthier-Villars, Marion; Coupier, Isabelle; Buecher, Bruno; Lortholary, Alain; Fricker, Jean-Pierre; Gesta, Paul; Nogues, Catherine; Faivre, Laurence; Berthet, Pascaline; Luporsi, Elisabeth; Delnatte, Capucine; Bonadona, Valerie; Maugard, Christine M.; Pujol, Pascal; Lasset, Christine; Longy, Michel; Bignon, Yves-Jean; Adenis-Lavignasse, Claude; Venat-Bouvet, Laurence; Dreyfus, Helene; Gladieff, Laurence; Mortemousque, Isabelle; Audebert-Bellanger, Severine; Soubrier, Florent; Giraud, Sophie; Lejeune-Dumoulin, Sophie; Limacher, Jean-Marc; Chiesa, Jean; Fajac, Anne; Floquet, Anne; Eisinger, Francois; Tinat, Julie; Fert-Ferrer, Sandra; Colas, Chrystelle; Frebourg, Thierry; Damiola, Francesca; Barjhoux, Laure; Cavaciuti, Eve; Mazoyer, Sylvie; Tardivon, Anne; Lesueur, Fabienne; Stoppa-Lyonnet, Dominique; Andrieu, Nadine Share Save
CEA, CA19-9, circulating DNA and circulating tumour cell kinetics in patients treated for metastatic colorectal cancer (mCRC) Sefrioui, David; Beaussire, Ludivine; Gillibert, Andre; Blanchard, France; Toure, Emmanuel; Bazille, Celine; Perdrix, Anne; Ziegler, Frederic; Gangloff, Alice; Hassine, Melanie; Elie, Caroline; Bignon, Anne-Laure; Parzy, Aurelie; Gomez, Philippe; Thill, Caroline; Clatot, Florian; Sabourin, Jean-Christophe; Frebourg, Thierry; Benichou, Jacques; Bouhier-Leporrier, Karine; Gallais, Marie-Pierre; Sarafan-Vasseur, Nasrin; Michel, Pierre; Di Fiore, Frederic Share Save
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism Saint-Martin, Cecile; Cauchois-Le Miere, Marine; Rex, Emily; Soukarieh, Omar; Arnoux, Jean-Baptiste; Buratti, Julien; Bouvet, Delphine; Frebourg, Thierry; Gaildrat, Pascaline; Shyng, Show-Ling; Bellanne-Chantelot, Christine; Martins, Alexandra Share Save
Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility Lonjou, Christine; Eon-Marchais, Severine; Truong, Therese; Dondon, Marie-Gabrielle; Karimi, Mojgan; Jiao, Yue; Damiola, Francesca; Barjhoux, Laure; Le Gal, Dorothee; Beauvallet, Juana; Mebirouk, Noura; Cavaciuti, Eve; Chiesa, Jean; Floquet, Anne; Audebert-Bellanger, Severine; Giraud, Sophie; Frebourg, Thierry; Limacher, Jean-Marc; Gladieff, Laurence; Mortemousque, Isabelle; Dreyfus, Helene; Lejeune-Dumoulin, Sophie; Lasset, Christine; Venat-Bouvet, Laurence; Bignon, Yves-Jean; Pujol, Pascal; Maugard, Christine M.; Luporsi, Elisabeth; Bonadona, Valerie; Nogues, Catherine; Berthet, Pascaline; Delnatte, Capucine; Gesta, Paul; Lortholary, Alain; Faivre, Laurence; Buecher, Bruno; Caron, Olivier; Gauthier-Villars, Marion; Coupier, Isabelle; Mazoyer, Sylvie; Monraz, Luis-Cristobal; Kondratova, Maria; Kuperstein, Inna; Guenel, Pascal; Barillot, Emmanuel; Stoppa-Lyonnet, Dominique; Andrieu, Nadine; Lesueur, Fabienne Share Save
Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples Cassinari, Kevin; Alessandri-Gradt, Elodie; Chambon, Pascal; Charbonnier, Francoise; Gracias, Segolene; Beaussire, Ludivine; Alexandre, Kevin; Sarafan-Vasseur, Nasrin; Houdayer, Claude; Etienne, Manuel; Caron, Francois; Plantier, Jean Christophe; Frebourg, Thierry Share Save
In utero alcohol exposure exacerbates endothelial protease activity from pial microvessels and impairs GABA interneuron positioning Leger, Cecile; Dupre, Nicolas; Laquerriere, Annie; Lecointre, Maryline; Dumanoir, Marion; Janin, Francois; Hauchecorne, Michelle; Fabre, Maelle; Jegou, Sylvie; Frebourg, Thierry; Cleren, Carine; Leroux, Philippe; Marcorelles, Pascale; Brasse-Lagnel, Carole; Marret, Stephane; Marguet, Florent; Gonzalez, Bruno J. Share Save
Blood functional assay for rapid clinical interpretation of germline TP53 variants Raad, Sabine; Rolain, Marion; Coutant, Sophie; Derambure, Celine; Lanos, Raphael; Charbonnier, Francoise; Bou, Jacqueline; Bouvignies, Emilie; Lienard, Gwendoline; Vasseur, Stephanie; Farrell, Michael; Ingster, Olivier; Desurmont, Stephanie Baert; Kasper, Edwige; Bougeard, Gaelle; Frebourg, Thierry; Tournier, Isabelle Share Save
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System Tubeuf, Helene; Caputo, Sandrine M.; Sullivan, Teresa; Rondeaux, Julie; Krieger, Sophie; Caux-Moncoutier, Virginie; Hauchard, Julie; Castelain, Gaia; Fievet, Alice; Meulemans, Laetitia; Revillion, Francoise; Leone, Melanie; Boutry-Kryza, Nadia; Delnatte, Capucine; Guillaud-Bataille, Marine; Cleveland, Linda; Reid, Susan; Southon, Eileen; Soukarieh, Omar; Drouet, Aurelie; Di Giacomo, Daniela; Vezain, Myriam; Bonnet-Dorion, Francoise; Bourdon, Violaine; Larbre, Helene; Muller, Daniele; Pujol, Pascal; Vaz, Fatima; Audebert-Bellanger, Severine; Colas, Chrystelle; Venat-Bouvet, Laurence; Solano, Angela R.; Stoppa-Lyonnet, Dominique; Houdayer, Claude; Frebourg, Thierry; Gaildrat, Pascaline; Sharan, Shyam K.; Martins, Alexandra Share Save
cfDNA and ctDNA variations are predictive of disease progression to conventional transarterial chemoembolization (cTACE) in patients with hepatocellular carcinoma (HCC) Sefrioui, D.; Verdier, V.; Savoye-Collet, C.; Beaussire, L.; Ghomadi, S.; Gangloff, A.; Goria, O.; Riachi, G.; Montialoux, H.; Schwarz, L.; Tuech, J-J.; Frebourg, T.; Michel, P.; Vasseur, N. Sarafan; Di Fiore, F. Share Save
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