Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes
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, Hoya, Miguel, Spurdle, Amanda B., De Meyer, Tim, Blok, Marinus J.
Published in International journal of cancer (15.07.2019)
Published in International journal of cancer (15.07.2019)
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Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study
Montalban, Gemma, Fraile‐Bethencourt, Eugenia, López‐Perolio, Irene, Pérez‐Segura, Pedro, Infante, Mar, Durán, Mercedes, Alonso‐Cerezo, María Concepción, López‐Fernández, Adrià, Diez, Orland, la Hoya, Miguel, Velasco, Eladio A., Gutiérrez‐Enríquez, Sara
Published in Human mutation (01.09.2018)
Published in Human mutation (01.09.2018)
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Computational 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, 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
Published in Frontiers in genetics (05.09.2018)
Published in Frontiers in genetics (05.09.2018)
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Application of bacteriophages in sensor development
Peltomaa, Riikka, López-Perolio, Irene, Benito-Peña, Elena, Barderas, Rodrigo, Moreno-Bondi, María Cruz
Published in Analytical and Bioanalytical Chemistry (01.03.2016)
Published in Analytical and Bioanalytical Chemistry (01.03.2016)
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Book Review
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples
Fackenthal, James D, Yoshimatsu, Toshio, Zhang, Bifeng, de Garibay, Gorka R, Colombo, Mara, De Vecchi, Giovanna, Ayoub, Samantha C, Lal, Kumar, Olopade, Olufunmilayo I, Vega, Ana, Santamariña, Marta, Blanco, Ana, Wappenschmidt, Barbara, Becker, Alexandra, Houdayer, Claude, Walker, Logan C, López-Perolio, Irene, Thomassen, Mads, Parsons, Michael, Whiley, Phillip, Blok, Marinus J, Brandão, Rita D, Tserpelis, Demis, Baralle, Diana, Montalban, Gemma, Gutiérrez-Enríquez, Sara, Díez, Orland, Lazaro, Conxi, Spurdle, Amanda B, Radice, Paolo, de la Hoya, Miguel
Published in Journal of medical genetics (01.08.2016)
Published in Journal of medical genetics (01.08.2016)
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BRCA1 Alternative splicing landscape in breast tissue samples
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
Published in BMC cancer (03.04.2015)
Published in BMC cancer (03.04.2015)
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Back Cover, Volume 39, Issue 9
Montalban, Gemma, Fraile-Bethencourt, Eugenia, López-Perolio, Irene, Pérez-Segura, Pedro, Infante, Mar, Durán, Mercedes, Alonso-Cerezo, María Concepción, López-Fernández, Adrià, Diez, Orland, de la Hoya, Miguel, Velasco, Eladio A., Gutiérrez-Enríquez, Sara
Published in Human mutation (01.09.2018)
Published in Human mutation (01.09.2018)
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Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report
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
Published in Journal of medical genetics (01.07.2019)
Published in Journal of medical genetics (01.07.2019)
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The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Colombo, Mara, Lòpez‐Perolio, Irene, Caleca, Laura, Parsons, Michael T., Li, Hongyan, Vecchi, Giovanna, Tudini, Emma, Foglia, Claudia, Mondini, Patrizia, Manoukian, Siranoush, 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., Arndt, Volker, Beckmann, Matthias W., Beeghly‐Fadel, Alicia, Boeckx, Bram, Bogdanova, Natalia V., Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Chang‐Claude, Jenny, Conroy, Don M., Couch, Fergus J., Cox, Angela, Czene, Kamila, Devilee, Peter, 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., 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., Olson, Janet E., Peto, Julian, Pylkäs, Katri, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Southey, Melissa C., Swerdlow, Anthony, Teo, Soo H., Tomlinson, Ian, Truong, Thérèse, Asperen, Christi J., den Ouweland, Ans M.W., 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, Rensburg, Elizabeth J., EMBRACE, Study, McGuffog, Lesley, Antoniou, Antonis C., Chenevix‐Trench, Georgia, Spurdle, Amanda B., Goldgar, David E., Hoya, Miguel de la, Radice, Paolo
Published in Human mutation (01.05.2018)
Published in Human mutation (01.05.2018)
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