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Journal Article
Catucci, Irene, Osorio, Ana 
ORCID: 0000-0001-8124-3984, Arver, Brita, Neidhardt, Guido, Bogliolo, Massimo ORCID: 0000-0001-8240-7784, Zanardi, Federica, Riboni, Mirko, Minardi, Simone, Pujol, Roser, Azzollini, Jacopo ORCID: 0000-0002-9364-9778, Peissel, Bernard, Manoukian, Siranoush, De Vecchi, Giovanna, Casola, Stefano ORCID: 0000-0001-5580-0986, Hauke, Jan, Richters, Lisa, Rhiem, Kerstin, Schmutzler, Rita K., Wallander, Karin ORCID: 0000-0001-8166-9678, Torngren, Therese, Borg, Ake, Radice, Paolo ORCID: 0000-0001-6298-4111, Surralles, Jordi, Hahnen, Eric, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Kvist, Anders ORCID: 0000-0002-1358-0695, Benitez, Javier and Peterlongo, Paolo ORCID: 0000-0001-6951-6855
(2018).
Individuals with &ITFANCM&IT biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
Genet. Med., 20 (4).
S. 452 - 458.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1530-0366
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
Colombo, Mara ORCID: 0000-0001-5465-354X, Lopez-Perolio, Irene, Meeks, Huong D., Caleca, Laura ORCID: 0000-0002-3381-7493, Parsons, Michael T., Li, Hongyan, De Vecchi, Giovanna, Tudini, Emma, Foglia, Claudia, Mondini, Patrizia, Manoukian, Siranoush, Behar, Raquel, Garcia, Encarna B. Gomez, Meindl, Alfons, Montagna, Marco, Niederacher, Dieter, Schmidt, Ane Y., Varesco, Liliana ORCID: 0000-0003-4871-6668, Wappenschmidt, Barbara, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Wang, Qin, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker ORCID: 0000-0001-9320-8684, Beckmann, Matthias W., Beeghly-Fadel, Alicia, Benitez, Javier, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Brenner, Hermann ORCID: 0000-0002-6129-1572, Burwinkel, Barbara, Chang-Claude, Jenny, Conroy, Don M., Couch, Fergus J., Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Czene, Kamila, Devilee, Peter, Dork, Thilo ORCID: 0000-0002-9458-0282, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia ORCID: 0000-0001-9387-7116, Flyger, Henrik, Gabrielson, Marike ORCID: 0000-0002-3171-1556, Garcia-Closas, Montserrat, Giles, Graham G., Gonzalez-Neira, Anna ORCID: 0000-0002-5421-2020, Guenel, Pascal ORCID: 0000-0002-8359-518X, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hartman, Mikael ORCID: 0000-0001-5726-9965, Hauke, Jan, Hollestelle, Antoinette, Hopper, John L., Jakubowska, Anna ORCID: 0000-0002-5650-0501, Jung, Audrey ORCID: 0000-0003-0875-6673, Kosma, Veli-Matti, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Le Marchand, Loid, Lindblom, Annika, Lubinski, Jan ORCID: 0000-0003-2931-3003, Mannermaa, Arto, Margolin, Sara, Miao, Hui, Milne, Roger L., Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Peto, Julian, Pylkas, Katri ORCID: 0000-0002-2449-0521, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., See, Mee Hoong ORCID: 0000-0002-3966-3368, Southey, Melissa C., Swerdlow, Anthony ORCID: 0000-0001-5550-4159, Teo, Soo H., Toland, Amanda E., Tomlinson, Ian, Truong, Therese, 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., McGuffog, Lesley, Antoniou, Antonis C., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Spurdle, Amanda B., Goldgar, David E., de la Hoya, Miguel ORCID: 0000-0002-8113-1410 and Radice, Paolo ORCID: 0000-0001-6298-4111
(2018).
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Hum. Mutat., 39 (5).
S. 729 - 742.
HOBOKEN:
WILEY.
ISSN 1098-1004
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