Browsing by Author Gutiérrez Enríquez, Sara

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Showing results 1 to 6 of 6
Issue DateTitleAuthor(s)
6-Dec-2020A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer PatientsFeliubadaló i Elorza, Maria Lídia; Moles Fernández, Alejandro; Santamariña-Pena, Marta; Sánchez, Alysson T.; López Novo, Anael; Porras, Luz Marina; Blanco, Ana; Capellá, G. (Gabriel); Hoya, Miguel de la; Molina, Ignacio J.; Osorio, Ana; Pineda Riu, Marta; Rueda, Daniel; Cruz, Xavier de la; Diez, Orland; Ruiz Ponte, Clara; Gutiérrez Enríquez, Sara; Vega, Ana; Lázaro García, Conxi
1-Jan-2024A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical AnalysisPorras, Luz Marina; Padilla, Natàlia; Moles Fernández, Alejandro; Feliubadaló, Lidia; Santamariña Pena, Marta; Sánchez, Alysson T.; López Novo, Anael; Blanco, Ana; De La Hoya, Miguel; Molina, Ignacio J.; Osorio, Ana; Pineda, Marta; Rueda, Daniel; Ruiz Ponte, Clara; Vega, Ana; Lázaro, Conxi; Díez, Orland; Gutiérrez Enríquez, Sara; De La Cruz, Xavier
5-Sep-2018Computational tools for splicing defect prediction in breast/ovarian cancer genes: how efficient are they at predicting RNA alterations?Moles-Fernández, Alejandro; Duran-Lozano, Laura; Montalban, Gemma; Bonache, Sandra; López-Perolio, Irene; Menéndez Vilà, Mireia; Santamariña-Pena, Marta; Behar, Raquel; Blanco, Ana; Carrasco, Estela; López-Fernández, Adrià; Stjepanovic, Neda; Balmaña, Judith; Capellá, G. (Gabriel); Pineda Riu, Marta; Vega, Ana; Lázaro García, Conxi; Hoya, Miguel de la; Díez Gibert, Orland; Gutiérrez Enríquez, Sara
6-Mar-2018Decapping Protein Edc4 Regulates Dna Repair And Phenocopies Brca1Hernández, Gonzalo; Ramírez, María José; Minguillón, Jordi; Quiles, Paco; Ruiz de Garibay, Gorka; Aza-Carmona, Miriam; Bogliolo, Massimo; Pujol, Roser; Prados-Carvajal, Rosario; Fernandez, Juana; Garcia, Nadia; López, Adriá; Gutiérrez Enríquez, Sara; Díez Gibert, Orland; Benitez, Javier; Salinas Masdeu, Mònica; Teulé-Vega, Àlex; Brunet, Joan; Radice, Paolo; Peterlongo, Paolo; Schindler, Detlev; Huertas, Pablo; Puente, Xose S.; Lázaro García, Conxi; Pujana Genestar, M. Ángel; Surrallés, Jordi
1-Sep-2019Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationParsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló i Elorza, Maria Lídia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso Cerezo, María Concepción; Hauke, Jan; Heinrich, Tilman; Törngren, Therese; Hellebrand, Heide; Arnold, Norbert; Seggewiß, Jochen; Caldés, Trinidad; Herold, Karen N.; Honisch, Ellen; Naldi, Nadia; Witzel, Isabell; Walters, Rhiannon J.; Rump, Andreas; Horvath, Judit; Poplawski, Nicola K.; Velasco, Àngela; Houdayer, Claude; Brunet, Joan; Cini, Giulia; Hübbel, Verena; Iglesias, Silvia; Wöckel, Achim; Steinemann, Doris; Izquierdo, Angel; Barbieri, Elena; Wang Gohrke, Shan; James, Paul A.; Carnevali, Ileana; Torres Esquius, Sara; Janssen, Linda A.M.; Jeschke, Udo; Kruse, Torben A.; Kölbl, Alexandra; Ledig, Susanne; Cops, Elisa J.; Vesper, Anne Sophie; Kaulfuß, Silke; Porfirio, Berardino; Auber, Bernd; Weber, Bernhard H. F.; Leinert, Elena; Rofes, Paula; Bruzzone, Carla; Woodward, Emma R.; Matricardi, Laura; Solanes, Ares; Carrasco, Estela; Mackelenbergh, Marion T.; Waha, Anke; Nathanson, Katherine L.; Tucker, Katherine M.; Bucksch, Karolin; Navarro, Matilde; Faust, Ulrike; Bonanni, Bernardo; González, Sara; Nevanlinna, Heli; Nichols, Cassandra B.; Cortesi, Laura; Wiesmüller, Lisa; Niederacher, Dieter; Vreeswijk, Maaike P. G.; Caux Moncoutier, Virginie; Nielsen, Henriette R.; Giesecke, Jutta; Hackmann, Karl; Azzollini, Jacopo; Ong, Kai Ren; Pachter, Nicholas; Galvao, Henrique C.R.; Couch, Fergus J.; Palmero, Edenir I.; Guerrieri Gonzaga, Aliana; Cagnoli, Giulia; Papi, Laura; Asperen, Christi J.; Pohl Rescigno, Esther; Ramser, Juliane; Cavalli, Pietro; Pedersen, Inge Søkilde; Wagner, Sebastian A.; Felbor, Ute; Darder, Esther; Reis, Rui M.; Wieland, Kerstin; Gismondi, Viviana; Blümcke, Britta; Zachariae, Silke; Calvello, Mariarosaria; Stiller, Mathias; Bartram, Claus R.; Feroce, Irene; Stoppa Lyonnet, Dominique; Keupp, Katharina; Hoya, Miguel; Lucci Cordisco, Emanuela; Sullivan, Kelly J.; Susman, Rachel; Zampiga, Valentina; Guillaud Bataille, Marine; Concolino, Paola; Sutter, Christian; Caliebe, Almuth; Gómez, Carolina; Tavtigian, Sean V.; Lewis, Alexandra L.; Montagna, Marco; Teo, Soo H.; Teulé, Alex; Debatin, Irmgard; Thomassen, Mads; Kvist, Anders; Gutiérrez Enríquez, Sara; Tibiletti, Maria Grazia; Meindl, Alfons; Fine, Miriam; Tischkowitz, Marc; Blanco, Ana; Toss, Angela; Varesco, Liliana; Montes, Eva; Garcia, Encarna B.; Tognazzo, Silvia; Caligo, Maria A.; Kiechle, Marion; Haaf, Thomas; Vargas Parra, Gardenía María; Clarke, Edward M.; Lim, Joanna; Bonache, Sandra; Dean, Michael; Michelli, Rodrigo D.; Gensini, Francesca; Gross, Eva; Zeder Göß, Christine; Gambino, Gaetana; Loeffler, Markus; Investigators, Kconfab; Peissel, Bernard; Rivera, Daniela; Lázaro García, Conxi; Nicolo, Arcangela; Mori, Luigi; Harris, Marion; Radice, Paolo; Grau Garcés, Èlia; Moghadasi, Setareh; Engel, Christoph; Revillion, Françoise; Krieger, Sophie; Schmutzler, Rita K.; Goldgar, David E.; Balmaña, Judith; Austin, Rachel; Borg, Åke; Salinas, Monica; López Fernández, Adrià; Spurdle, Amanda B.; Gehrig, Andrea; Capone, Gabriele L.; Moles Fernández, Alejandro; Bortesi, Beatrice; Grill, Sabine; Pérez Segura, Pedro; Moserle, Lidia; Caputo, Sandrine M.; Hansen, Thomas V.O.; Rhiem, Kerstin; Lattimore, Vanessa L.; Marabelli, Monica; Del Valle, Jesús; Lalloo, Fiona; Pfeifer, Katharina; Delnatte, Capucine; Toland, Amanda E.; Müller, Clemens R.; Viel, Alessandra; Derive, Nicolas; Diez, Orland; Sánchez de Abajo, Ana María; Monteiro, Alvaro N.; Ditsch, Nina; Maass, Nicolai; Riboli, Barbara; Domchek, Susan M.; Varon-Mateeva, Raymonda; Weichert, Wilko; Dutrannoy, Véronique; Eccles, Diana; Ehrencrona, Hans; Trainer, Alison H.; Schmidt, Gunnar; Enders, Ute; Walker, Logan C.; Pineda Riu, Marta; Evans, D. Gareth; Larsen, Mirjam; Foulkes, William D.; Gerdes, Anne Marie; Ritter, Julia; Farra, Chantal; Manoukian, Siranoush; Tornero, Eva; Schoenwiese, Ulrike; Germani, Aldo; Montalban, Gemma; Vega, Ana; Lautrup, Charlotte; Mundhenke, Christoph; Quante, Anne S.
31-Jan-2022Unravelling genetic predisposition to familial breast and ovarian cancer: new susceptibility genes and variant interpretation by in silico approachesMoles Fernández, Alejandro