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Journal Article
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
Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Catucci, Irene, Colombo, Mara
ORCID: 0000-0001-5465-354X, Caleca, Laura
ORCID: 0000-0002-3381-7493, Mucaki, Eliseos, Bogliolo, Massimo
ORCID: 0000-0001-8240-7784, Marin, Maria, Damiola, Francesca
ORCID: 0000-0002-0238-1252, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, Dall'Olio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald
ORCID: 0000-0002-3595-9188, Sornin, Valerie, Dondon, Marie-Gabrielle
ORCID: 0000-0001-6016-8524, Eon-Marchais, Severine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., Mitchell, Gillian, James, Paul A., Thompson, Ella, Marchetti, Marina
ORCID: 0000-0001-9036-960X, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio
ORCID: 0000-0002-7410-8351, Medici, Veronica, Marchi, Isabella, Federico, Massimo
ORCID: 0000-0002-5074-3262, Tognazzo, Silvia
ORCID: 0000-0002-6260-1261, Matricardi, Laura
ORCID: 0000-0002-0241-1810, Agata, Simona, Dolcetti, Riccardo
ORCID: 0000-0003-1625-9853, Della Puppa, Lara, Cini, Giulia
ORCID: 0000-0002-8696-8922, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard
ORCID: 0000-0001-9233-3571, Roversi, Gaia, Silvestri, Valentina
ORCID: 0000-0003-0712-9379, Rizzolo, Piera
ORCID: 0000-0002-3421-1485, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana
ORCID: 0000-0002-0671-0244, Tommasi, Stefania
ORCID: 0000-0002-2157-2978, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana
ORCID: 0000-0001-8124-3984, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A., Renieri, Alessandra
ORCID: 0000-0002-0846-9220, Varesco, Liliana
ORCID: 0000-0003-4871-6668, Couch, Fergus J., Wang, Xianshu, Devilee, Peter
ORCID: 0000-0002-8023-2009, Hilbers, Florentine S., van Asperen, Christi J., Viel, Alessandra
ORCID: 0000-0003-2804-0840, Montagna, Marco, Cortesi, Laura
ORCID: 0000-0001-8950-8561, Diez, Orland, Balmana, Judith
ORCID: 0000-0002-0762-6415, Hauke, Jan, Schmutzler, Rita K., Papi, Laura
ORCID: 0000-0003-4552-9517, Angel Pujana, Miguel, Lazaro, Conxi, Falanga, Anna
ORCID: 0000-0002-5007-3457, Offit, Kenneth, Vijai, Joseph, Campbell, Ian
ORCID: 0000-0002-7773-4155, Burwinkel, Barbara, Kvist, Anders
ORCID: 0000-0002-1358-0695, Ehrencrona, Hans
ORCID: 0000-0002-5589-3622, Mazoyer, Sylvie
ORCID: 0000-0002-2135-0160, Pizzamiglio, Sara
ORCID: 0000-0002-7759-0550, Verderio, Paolo
ORCID: 0000-0002-9231-1281, Surralles, Jordi
ORCID: 0000-0002-4041-7519, Rogan, Peter K. and Radice, Paolo
ORCID: 0000-0001-6298-4111
(2015).
FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum. Mol. Genet., 24 (18).
S. 5345 - 5356.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
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
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