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Journal Article

Colombo, Mara ORCID: 0000-0001-5465-354X, Blok, Marinus J., Whiley, Phillip, Santamarina, Marta, Gutierrez-Enriquez, Sara ORCID: 0000-0002-1711-6101, Romero, Atocha, Garre, Pilar, Becker, Alexandra, Smith, Lindsay Denise, De Vecchi, Giovanna, Brandao, Rita D., Tserpelis, Demis, Brown, Melissa ORCID: 0000-0002-2830-9259, Blanco, Ana, Bonache, Sandra, Menendez, Mireia, Houdayer, Claude, Foglia, Claudia ORCID: 0000-0002-5505-7667, Fackenthal, James D., Baralle, Diana ORCID: 0000-0003-3217-4833, Wappenschmidt, Barbara, Diaz-Rubio, Eduardo ORCID: 0000-0003-2792-5348, Caldes, Trinidad, Walker, Logan ORCID: 0000-0003-0018-3719, Diez, Orland, Vega, Ana, Spurdle, Amanda B., Radice, Paolo ORCID: 0000-0001-6298-4111 and De La Hoya, Miguel (2014). Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Hum. Mol. Genet., 23 (14). S. 3666 - 3681. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Fackenthal, James D., Yoshimatsu, Toshio ORCID: 0000-0003-2674-8159, Zhang, Bifeng, de Garibay, Gorka R., Colombo, Mara ORCID: 0000-0001-5465-354X, De Vecchi, Giovanna, Ayoub, Samantha C., Lal, Kumar, Olopade, Olufunmilayo I., Vega, Ana, Santamarina, Marta, Blanco, Ana, Wappenschmidt, Barbara, Becker, Alexandra, Houdayer, Claude, Walker, Logan C., Lopez-Perolio, Irene, Thomassen, Mads, Parsons, Michael ORCID: 0000-0003-3242-8477, Whiley, Phillip, Blok, Marinus J., Brandao, Rita D., Tserpelis, Demis, Baralle, Diana, Montalban, Gemma ORCID: 0000-0002-6958-4759, Gutierrez-Enriquez, Sara ORCID: 0000-0002-1711-6101, Diez, Orland, Lazaro, Conxi, Spurdle, Amanda B., Radice, Paolo ORCID: 0000-0001-6298-4111 and de la Hoya, Miguel ORCID: 0000-0002-8113-1410 (2016). Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. J. Med. Genet., 53 (8). S. 548 - 559. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Lecarpentier, Julie, Silvestri, Valentina ORCID: 0000-0003-0712-9379, Kuchenbaecker, Karoline B., Barrowdale, Daniel ORCID: 0000-0003-1661-3939, Dennis, Joe, McGuffog, Lesley, Soucy, Penny, Leslie, Goska ORCID: 0000-0001-5756-6222, Rizzolo, Piera ORCID: 0000-0002-3421-1485, Navazio, Anna Sara, Valentini, Virginia, Zelli, Veronica, Lee, Andrew, Al Olama, Ali Amin, Tyrer, Jonathan P., Southey, Melissa ORCID: 0000-0002-6313-9005, John, Esther M., Conner, Thomas A., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Steele, Linda, Ding, Yuan Chun, Neuhausen, Susan L., Hansen, Thomas V. O., Osorio, Ana ORCID: 0000-0001-8124-3984, Weitzel, Jeffrey N., Toss, Angela, Medici, Veronica, Cortesi, Laura, Zanna, Ines ORCID: 0000-0002-5710-6506, Palli, Domenico, Radice, Paolo ORCID: 0000-0001-6298-4111, Manoukian, Siranoush, Peissel, Bernard, Azzollini, Jacopo ORCID: 0000-0002-9364-9778, Viel, Alessandra ORCID: 0000-0003-2804-0840, Cini, Giulia ORCID: 0000-0002-8696-8922, Damante, Giuseppe, Tommasi, Stefania, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Fostira, Florentia, Hamann, Ute, Evans, D. Gareth, Henderson, Alex, Brewer, Carole, Eccles, Diana ORCID: 0000-0002-9935-3169, Cook, Jackie, Ong, Kai-ren, Walker, Lisa, Side, Lucy E., Porteous, Mary E., Davidson, Rosemarie, Hodgson, Shirley, Frost, Debra, Adlard, Julian ORCID: 0000-0002-1693-0435, Izatt, Louise, Eeles, Ros, Ellis, Steve, Tischkowitz, Marc ORCID: 0000-0002-7880-0628, Godwin, Andrew K., Meindl, Alfons, Gehrig, Andrea, Dworniczak, Bernd, Sutter, Christian, Engel, Christoph ORCID: 0000-0002-7247-282X, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Hauke, Jan, Rhiem, Kerstin, Kast, Karin, Arnold, Norbert ORCID: 0000-0003-4523-8808, Ditsch, Nina, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Wand, Dorothea, Lasset, Christine, Stoppa-Lyonnet, Dominique, Belotti, Muriel, Damiola, Francesca ORCID: 0000-0002-0238-1252, Barjhoux, Laure, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Van Heetvelde, Mattias, Poppe, Bruce, De Leeneer, Kim, Claes, Kathleen B. M., de la Hoya, Miguel ORCID: 0000-0002-8113-1410, Garcia-Barberan, Vanesa, Caldes, Trinidad, Perez Segura, Pedro, Kiiski, Johanna I. ORCID: 0000-0002-4089-7209, Aittomaeki, Kristiina, Khan, Sofia ORCID: 0000-0003-4185-8882, Nevanlinna, Heli, van Asperen, Christi J., Vaszko, Tibor, Kasler, Miklos, Olah, Edith, Balmana, Judith ORCID: 0000-0002-0762-6415, Gutierrez-Enriquez, Sara ORCID: 0000-0002-1711-6101, Diez, Orland, Teule, Alex ORCID: 0000-0003-0028-7200, Izquierdo, Angel, Darder, Esther, Brunet, Joan ORCID: 0000-0003-1945-3512, Del Valle, Jesus, Feliubadalo, Lidia ORCID: 0000-0002-1736-0112, Pujana, Miquel Angel, Lazaro, Conxi, Arason, Adalgeir, Agnarsson, Bjarni A., Johannsson, Oskar Th., Barkardottir, Rosa B., Alducci, Elisa, Tognazzo, Silvia ORCID: 0000-0002-6260-1261, Montagna, Marco, Teixeira, Manuel R., Pinto, Pedro ORCID: 0000-0001-6289-5792, Spurdle, Amanda B., Holland, Helene, Lee, Jong Won, Lee, Min Hyuk, Lee, Jihyoun, Kim, Sung-Won, Kang, Eunyoung, Kim, Zisun, Sharma, Priyanka ORCID: 0000-0001-8592-2239, Rebbeck, Timothy R., Vijai, Joseph, Robson, Mark, Lincoln, Anne, Musinsky, Jacob, Gaddam, Pragna, Tan, Yen Y., Berger, Andreas, Singer, Christian F., Loud, Jennifer T., Greene, Mark H., Mulligan, Anna Marie ORCID: 0000-0002-7239-5297, Glendon, Gord, Andrulis, Irene L., Toland, Amanda Ewart, Senter, Leigha ORCID: 0000-0001-9270-8847, Bojesen, Anders ORCID: 0000-0003-4289-8595, Nielsen, Henriette Roed, Skytte, Anne-Bine ORCID: 0000-0002-0067-9557, Sunde, Lone ORCID: 0000-0002-8479-165X, Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, Pedersen, Inge Sokilde ORCID: 0000-0002-9902-8040, Krogh, Lotte, Kruse, Torben A., Caligo, Maria A., Yoon, Sook-Yee, Teo, Soo-Hwang, von Wachenfeldt, Anna, Huo, Dezheng, Nielsen, Sarah M., Olopade, Olufunmilayo I., Nathanson, Katherine L., Domchek, Susan M., Lorenchick, Christa, Jankowitz, Rachel C., Campbell, Ian ORCID: 0000-0002-7773-4155, James, Paul ORCID: 0000-0002-4361-4657, Mitchell, Gillian, Orr, Nick, Park, Sue Kyung, Thomassen, Mads, Offit, Kenneth, Couch, Fergus J., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Schmutzler, Rita K., Antoniou, Antonis C. and Ottini, Laura (2017). Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores. J. Clin. Oncol., 35 (20). S. 2240 - 2257. ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

Li, Na ORCID: 0000-0003-1578-9561, Zethoven, Magnus, McInerny, Simone, Devereux, Lisa ORCID: 0000-0003-2435-5888, Huang, Yu-Kuan, Thio, Niko, Cheasley, Dane ORCID: 0000-0002-1170-4690, Gutierrez-Enriquez, Sara ORCID: 0000-0002-1711-6101, Moles-Fernandez, Alejandro, Diez, Orland, Nguyen-Dumont, Tu, Southey, Melissa C., Hopper, John L., Simard, Jacques ORCID: 0000-0001-6906-3390, Dumont, Martine, Soucy, Penny, Meindl, Alfons, Schmutzler, Rita, Schmidt, Marjanka K., Adank, Muriel A., Andrulis, Irene L., Hahnen, Eric, Engel, Christoph ORCID: 0000-0002-7247-282X, Lesueur, Fabienne ORCID: 0000-0001-7404-4549, Girard, Elodie, Neuhausen, Susan L., Ziv, Elad, Allen, Jamie, Easton, Douglas F., Scott, Rodney J., Gorringe, Kylie L., James, Paul A. and Campbell, Ian G. (2021). Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects. npj Breast Cancer, 7 (1). BERLIN: NATURE RESEARCH. ISSN 2374-4677

Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadalo, Lidia ORCID: 0000-0002-1736-0112, Aalfs, Cora M., Agata, Simona, Aittomaki, Kristiina, Alducci, Elisa, Concepcion Alonso-Cerezo, Maria, Arnold, Norbert ORCID: 0000-0003-4523-8808, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmana, Judith ORCID: 0000-0002-0762-6415, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Bluemcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Ake, Bortesi, Beatrice, Brunet, Joan ORCID: 0000-0003-1945-3512, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldes, Trinidad, Caliebe, Almuth ORCID: 0000-0003-2157-425X, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M., Carnevali, Ileana, Carrasco, Estela, Caux-Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia ORCID: 0000-0002-8696-8922, Clarke, Edward M., Concolino, Paola, Cops, Elisa J., Cortesi, Laura, Couch, Fergus J., Darder, Esther, de la Hoya, Miguel, Dean, Michael, Debatin, Irmgard, Del Valle, Jesus, Delnatte, Capucine, Derive, Nicolas, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Veronique, Eccles, Diana M., Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Enders, Ute, Evans, D. Gareth, Farra, Chantal, Faust, Ulrike, Felbor, Ute, Feroce, Irene, Fine, Miriam, Foulkes, William D., Galvao, Henrique Cr, Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne-Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gomez, Carolina, Garcia, Encarna B. Gomez, Gonzalez, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri-Gonzaga, Aliana, Guillaud-Bataille, Marine, Gutierrez-Enriquez, Sara, Haaf, Thomas, Hackmann, Karl, Hansen, Thomas Vo, Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Huebbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda Am, Jeschke, Udo, Kaulfuss, Silke, Keupp, Katharina, Kiechle, Marion, Koelbl, Alexandra, Krieger, Sophie, Kruse, Torben A., Kvist, Anders, Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa L., Lautrup, Charlotte, Ledig, Susanne, Leinert, Elena, Lewis, Alexandra L., Lim, Joanna, Loeffler, Markus, Lopez-Fernandez, Adria, Lucci-Cordisco, Emanuela, Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica, Matricardi, Laura ORCID: 0000-0002-0241-1810, Meindl, Alfons, Michelli, Rodrigo D., Moghadasi, Setareh, Moles-Fernandez, Alejandro, Montagna, Marco, Montalban, Gemma, Monteiro, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Mueller, Clemens R., Mundhenke, Christoph, Naldi, Nadia, Nathanson, Katherine L., Navarro, Matilde, Nevanlinna, Heli, Nichols, Cassandra B., Niederacher, Dieter, Nielsen, Henriette R., Ong, Kai-ren, Pachter, Nicholas, Palmero, Edenir, I, Papi, Laura, Pedersen, Inge Sokilde, Peissel, Bernard, Perez-Segura, Pedro, Pfeifer, Katharina, Pineda, Marta, Pohl-Rescigno, Esther, Poplawski, Nicola K., Porfirio, Berardino, Quante, Anne S., Ramser, Juliane, Reis, Rui M., Revillion, Francoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela ORCID: 0000-0001-7515-3608, Rofes, Paula ORCID: 0000-0001-6045-7879, Rump, Andreas, Salinas, Monica, Sanchez de Abajo, Ana Maria, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiss, Jochen, Solanes, Ares, Steinemann, Doris, Stiller, Mathias, Stoppa-Lyonnet, Dominique, Sullivan, Kelly J., Susman, Rachel, Sutter, Christian, Tavtigian, Sean, V, Teo, Soo H., Teule, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia ORCID: 0000-0002-6260-1261, Toland, Amanda E., Tornero, Eva, Torngren, Therese, Torres-Esquius, Sara ORCID: 0000-0001-7540-7284, Toss, Angela, Trainer, Alison H., Tucker, Katherine M., van Asperen, Christi J., van Mackelenbergh, Marion T., Varesco, Liliana ORCID: 0000-0003-4871-6668, Vargas-Parra, Gardenia, Varon, Raymonda, Vega, Ana, Velasco, Angela, Vesper, Anne-Sophie, Viel, Alessandra ORCID: 0000-0003-2804-0840, Vreeswijk, Maaike P. G., Wagner, Sebastian A., Waha, Anke, Walker, Logan C., Walters, Rhiannon J., Wang-Gohrke, Shan, Weber, Bernhard H. F., Weichert, Wilko, Wieland, Kerstin, Wiesmueller, Lisa, Witzel, Isabell, Woeckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder-Goss, Christine, Lazaro, Conxi, De Nicolo, Arcangela ORCID: 0000-0002-7275-5571, Radice, Paolo ORCID: 0000-0001-6298-4111, Engel, Christoph ORCID: 0000-0002-7247-282X, Schmutzler, Rita K., Goldgar, David E. and Spurdle, Amanda B. (2019). Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Hum. Mutat., 40 (9). S. 1557 - 1579. HOBOKEN: WILEY. ISSN 1098-1004

Whiley, Phillip J., de la Hoya, Miguel ORCID: 0000-0002-8113-1410, Thomassen, Mads, Becker, Alexandra, Brandao, Rita, Pedersen, Inge Sokilde ORCID: 0000-0002-9902-8040, Montagna, Marco, Menendez, Mireia, Quiles, Francisco, Gutierrez-Enriquez, Sara ORCID: 0000-0002-1711-6101, De Leeneer, Kim, Tenes, Anna, Montalban, Gemma ORCID: 0000-0002-6958-4759, Tserpelis, Demis, Yoshimatsu, Toshio ORCID: 0000-0003-2674-8159, Tirapo, Carole, Raponi, Michela, Caldes, Trinidad, Blanco, Ana, Santamarina, Marta, Guidugli, Lucia, Ruiz de Garibay, Gorka, Wong, Ming, Tancredi, Mariella, Fachal, Laura ORCID: 0000-0002-7256-9752, Ding, Yuan Chun, Kruse, Torben, Lattimore, Vanessa, Kwong, Ava ORCID: 0000-0002-6968-9489, Chan, Tsun Leung, Colombo, Mara ORCID: 0000-0001-5465-354X, De Vecchi, Giovanni, Caligo, Maria, Baralle, Diana ORCID: 0000-0003-3217-4833, Lazaro, Conxi, Couch, Fergus, Radice, Paolo ORCID: 0000-0001-6298-4111, Southey, Melissa C., Neuhausen, Susan, Houdayer, Claude, Fackenthal, Jim, Hansen, Thomas Van Overeem, Vega, Ana, Diez, Orland, Blok, Rien, Claes, Kathleen ORCID: 0000-0003-0841-7372, Wappenschmidt, Barbara, Walker, Logan ORCID: 0000-0003-0018-3719, Spurdle, Amanda B. and Brown, Melissa A. (2014). Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing. Clin. Chem., 60 (2). S. 341 - 353. WASHINGTON: AMER ASSOC CLINICAL CHEMISTRY. ISSN 1530-8561