BRCA1 Alternative splicing landscape in breast tissue samples

por Romero, Atocha, García-García, Francisco, López-Perolio, Irene, Ruiz de Garibay, Gorka, García-Sáenz, José A, Garre, Pilar, Ayllón, Patricia, Benito, Esperanza, Dopazo, Joaquín, Díaz-Rubio, Eduardo, Caldés, Trinidad, de la Hoya, Miguel
Publicado 2015

Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

por Brandão, Rita D., Mensaert, Klaas, López‐Perolio, Irene, Tserpelis, Demis, Xenakis, Markos, Lattimore, Vanessa, Walker, Logan C., Kvist, Anders, Vega, Ana, Gutiérrez‐Enríquez, Sara, Díez, Orland, de la Hoya, Miguel, Spurdle, Amanda B., De Meyer, Tim, Blok, Marinus J.
Publicado 2019

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

por Moles-Fernández, Alejandro, Duran-Lozano, Laura, Montalban, Gemma, Bonache, Sandra, López-Perolio, Irene, Menéndez, Mireia, Santamariña, Marta, Behar, Raquel, Blanco, Ana, Carrasco, Estela, López-Fernández, Adrià, Stjepanovic, Neda, Balmaña, Judith, Capellá, Gabriel, Pineda, Marta, Vega, Ana, Lázaro, Conxi, de la Hoya, Miguel, Diez, Orland, Gutiérrez-Enríquez, Sara
Publicado 2018

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

por Lopez-Perolio, Irene, Leman, Raphaël, Behar, Raquel, Lattimore, Vanessa, Pearson, John F, Castéra, Laurent, Martins, Alexandra, Vaur, Dominique, Goardon, Nicolas, Davy, Grégoire, Garre, Pilar, García-Barberán, Vanesa, Llovet, Patricia, Pérez-Segura, Pedro, Díaz-Rubio, Eduardo, Caldés, Trinidad, Hruska, Kathleen S, Hsuan, Vickie, Wu, Sitao, Pesaran, Tina, Karam, Rachid, Vallon-Christersson, Johan, Borg, Ake, Investigators, kConFab, Valenzuela-Palomo, Alberto, Velasco, Eladio A, Southey, Melissa, Vreeswijk, Maaike P G, Devilee, Peter, Kvist, Anders, Spurdle, Amanda B, Walker, Logan C, Krieger, Sophie, de la Hoya, Miguel
Publicado 2019

The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

por Colombo, Mara, Lòpez‐Perolio, Irene, Meeks, Huong D., Caleca, Laura, Parsons, Michael T., Li, Hongyan, De Vecchi, Giovanna, Tudini, Emma, Foglia, Claudia, Mondini, Patrizia, Manoukian, Siranoush, Behar, Raquel, Garcia, Encarna B. Gómez, Meindl, Alfons, Montagna, Marco, Niederacher, Dieter, Schmidt, Ane Y., Varesco, Liliana, Wappenschmidt, Barbara, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Aittomäki, Kristiina, Andrulis, Irene L., Anton‐Culver, Hoda, Arndt, Volker, Beckmann, Matthias W., Beeghly‐Fadel, Alicia, Benitez, Javier, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Chang‐Claude, Jenny, Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Devilee, Peter, Dörk, Thilo, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Gabrielson, Marike, García‐Closas, Montserrat, Giles, Graham G., González‐Neira, Anna, Guénel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hartman, Mikael, Hauke, Jan, Hollestelle, Antoinette, Hopper, John L., Jakubowska, Anna, Jung, Audrey, Kosma, Veli‐Matti, Lambrechts, Diether, Le Marchand, Loid, Lindblom, Annika, Lubinski, Jan, Mannermaa, Arto, Margolin, Sara, Miao, Hui, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Peterlongo, Paolo, Peto, Julian, Pylkäs, Katri, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., See, Mee Hoong, Southey, Melissa C., Swerdlow, Anthony, Teo, Soo H., Toland, Amanda E., Tomlinson, Ian, Truong, Thérèse, van Asperen, Christi J., van den Ouweland, Ans M.W., van der Kolk, Lizet E., Winqvist, Robert, Yannoukakos, Drakoulis, Zheng, Wei, Dunning, Alison M., Easton, Douglas F., Henderson, Alex, Hogervorst, Frans B.L., Izatt, Louise, Offitt, Kenneth, Side, Lucy E., van Rensburg, Elizabeth J., EMBRACE, Study, HEBON, Study, McGuffog, Lesley, Antoniou, Antonis C., Chenevix‐Trench, Georgia, Spurdle, Amanda B., Goldgar, David E., de la Hoya, Miguel, Radice, Paolo
Publicado 2018