 | Up a level |
2020
Feng, Helian, Gusev, Alexander, Pasaniuc, Bogdan, Wu, Lang, Long, Jirong, Abu-full, Zomoroda, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Antoniou, Antonis C., Arason, Adalgeir, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Auer, Paul L., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barnes, Daniel R., Barrowdale, Daniel 
ORCID: 0000-0003-1661-3939, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna ORCID: 0000-0001-8489-6665, Blanco, Ana, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Borg, Ake, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Brenner, Hermann ORCID: 0000-0002-6129-1572, Briceno, Ignacio, Broeks, Annegien, Bruening, Thomas, Burwinkel, Barbara, Cai, Qiuyin, Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Canisius, Sander, Campa, Daniele, Carter, Brian D., Carter, Jonathan, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Couch, Fergus J., Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Cybulski, Cezary, Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, De Leeneer, Kim, Dennis, Joe, Devilee, Peter, Diez, Orland, Domchek, Susan M., Doerk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M., Dwek, Miriam ORCID: 0000-0001-7184-2932, Eccles, Diana M., Ejlertsen, Bent, Ellberg, Carolina, Engel, Christoph ORCID: 0000-0002-7247-282X, Eriksson, Mikael, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin ORCID: 0000-0002-7692-3560, Frost, Debra, Gabrielson, Marike, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Garcia-Closas, Montserrat, Garcia-Saenz, Jose A., Gaudet, Mia M., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna ORCID: 0000-0002-5421-2020, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal ORCID: 0000-0002-8359-518X, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hake, Christopher, He, Wei ORCID: 0000-0003-0161-3274, Heyworth, Jane ORCID: 0000-0003-1411-4554, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Huang, Guanmengqian, Hulick, Peter J., Humphreys, Keith, Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna, James, Paul ORCID: 0000-0002-4361-4657, Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Joseph, Vijai, Jung, Audrey, Karlan, Beth Y., Khusnutdinova, Elza, Kiiski, Johanna, I, Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Kristensen, Vessela N., Laitman, Yael, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Lazaro, Conxi, Leroux, Dominique, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindor, Noralane, Lindstrom, Sara, Lo, Wing-Yee, Loud, Jennifer T., Lubinski, Jan, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Martinez, Maria E., Matricardi, Laura, Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons, Menon, Usha, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Kapoor, Pooja M., Miller, Austin, Montagna, Marco, Moreno, Fernando, Moserle, Lidia, Mulligan, Anna M., Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Nielsen, Finn C., Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan ORCID: 0000-0002-8794-9635, Osorio, Ana ORCID: 0000-0001-8124-3984, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge S., Peixoto, Ana ORCID: 0000-0002-1404-5897, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Peto, Julian, Pharoah, Paul D. P., Phillips, Kelly-Anne, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Pradhan, Nisha, Prajzendanc, Karolina, Presneau, Nadege, Punie, Kevin ORCID: 0000-0002-1162-7963, Pylkas, Katri, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad Usman, Rennert, Gad, Risch, Harvey A., Robson, Mark, Romero, Atocha, Saloustros, Emmanouil, Sandler, Dale P., Santos, Catarina ORCID: 0000-0002-9102-757X, Sawyer, Elinor J., Schmidt, Marjanka K., Schmidt, Daniel F., Schmutzler, Rita K., Schoemaker, Minouk J., Scott, Rodney J., Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine ORCID: 0000-0002-0067-9557, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stone, Jennifer ORCID: 0000-0001-5077-0124, Swerdlow, Anthony J., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, Mary Beth, Teule, Alex, Thomassen, Mads, Thoene, Kathrin, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Torres, Diana, Truong, Therese, Tung, Nadine, Vachon, Celine M., van Asperen, Christi J., van den Ouweland, Ans M. W., van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Vieiro-Balo, Paula, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Ziogas, Argyrios, Milne, Roger L., Easton, Douglas F., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Zheng, Wei, Kraft, Peter and Jiang, Xia
(2020).
Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
Genet. Epidemiol., 44 (5).
S. 442 - 469.
HOBOKEN:
WILEY.
ISSN 1098-2272
Zhan, Haoyu, Ahearn, Thomas U., Lecarpentier, Julie, Barnes, Daniel ORCID: 0000-0002-3781-7570, Beesley, Jonathan, Qi, Guanghao, Jiang, Xia, O'Mara, Tracy A., Zhao, Ni, Bolla, Manjeet K., Dunning, Alison M., Dennis, Joe, Wang, Qin, Abu Ful, Zumuruda, Aittomaki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J., Arun, Banu K., Auer, Paul L., Azzollini, Jacopo, Barrowdale, Daniel ORCID: 0000-0003-1661-3939, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna ORCID: 0000-0001-8489-6665, Blanco, Ana, Blomqvist, Carl, Bogdanova, Natalia, V, Bojesen, Stig E., Bonanni, Bernardo, Bondavalli, Davide, Borg, Ake, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Brenner, Hermann ORCID: 0000-0002-6129-1572, Briceno, Ignacio, Broeks, Annegien, Brucker, Sara Y., Bruening, Thomas, Burwinkel, Barbara, Buys, Saundra S., Byers, Helen, Caldes, Trinidad, Caligo, Maria A., Calvello, Mariarosaria, Campa, Daniele, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiaens, Melissa, Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Cornelissen, Sten, Couch, Fergus J., Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Domchek, Susan M., Doerk, Thilo, Dwek, Miriam ORCID: 0000-0001-7184-2932, Eccles, Diana M., Ekici, Arif B., Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Saenz, Jose A., Gaudet, Mia M., Gayther, Simon A., Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., Gonzalez-Neira, Anna ORCID: 0000-0002-5421-2020, Greene, Mark H., Gronwald, Jacek, Guenel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hake, Christopher R., Hall, Per, Hamann, Ute, Harkness, Elaine F., Heemskerk-Gerritsen, Bernadette A. M., Hillemanns, Peter, Hogervorst, Frans B. L., Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Howell, Anthony, Huebner, Hanna ORCID: 0000-0001-6889-1493, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul ORCID: 0000-0002-4361-4657, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M., Jones, Michael E., Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khan, Sofia, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Koppert, Linetta B., Koutros, Stella, Kristensen, Vessela N., Laenkholm, Anne-Vibeke, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Larsson, Susanna C., Laurent-Puig, Pierre, Lazaro, Conxi, Lazarova, Emilija, Lejbkowicz, Flavio, Leslie, Goska, Lesueur, Fabienne, Lindblom, Annika, Lissowska, Jolanta ORCID: 0000-0003-2695-5799, Lo, Wing-Yee, Loud, Jennifer T., Lubinski, Jan, Lukomska, Alicja, MacInnis, Robert J., Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matricardi, Laura, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Mingazheva, Elvira, Montagna, Marco, Mulligan, Anna Marie, Mulot, Claire, Muranen, Taru A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Newman, William G., Nielsens, Finn C., Nikitina-Zake, Liene, Nodora, Jesse, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Olsson, Hakan ORCID: 0000-0002-8794-9635, Orr, Nick, Papi, Laura, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Peissel, Bernard, Peixoto, Ana, Peshkin, Beth, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Peto, Julian, Phillips, Kelly-Anne, Piedmonte, Marion, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Prokofyeva, Darya, Rack, Brigitte, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Risch, Harvey A., Romero, Atocha, Rookus, Matti A., Ruebner, Matthias, Ruediger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P., Sawyer, Elinor J., Scheuner, Maren T., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schoettker, Ben, Schuermann, Peter, Senter, Leigha, Sharma, Priyanka, Sherman, Mark E., Shu, Xiao-Ou, Singer, Christian F., Smichkoska, Snezhana, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Stone, Jennifer ORCID: 0000-0001-5077-0124, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony J., Szabo, Csilla, I, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R., Terry, MaryBeth, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Troester, Melissa A., Truong, Therese, Tung, Nadine, Untch, Michael, Vachon, Celine M., van den Ouweland, Ans M. W., van der Kolk, Lizet E., van Veen, Elke M., vanRensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Zorn, Kristin K., Milne, Roger L., Kraft, Peter, Simard, Jacques, Pharoah, Paul D. P., Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Antoniou, Antonis C., Schmidt, Marjanka K., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Easton, Douglas F., Chatterjee, Nilanjan and Garcia-Closas, Montserrat
(2020).
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.
Nature Genet., 52 (6).
S. 572 - 591.
BERLIN:
NATURE RESEARCH.
ISSN 1546-1718
2019
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
2016
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
de la Hoya, Miguel ORCID: 0000-0002-8113-1410, Soukarieh, Omar ORCID: 0000-0003-4923-4353, Lopez-Perolio, Irene, Vega, Ana, Walker, Logan C., van Ierland, Yvette, Baralle, Diana ORCID: 0000-0003-3217-4833, Santamarina, Marta, Lattimore, Vanessa, Wijnen, Juul, Whiley, Philip, Blanco, Ana, Raponi, Michela, Hauke, Jan, Wappenschmidt, Barbara, Becker, Alexandra, Hansen, Thomas V. O., Behar, Raquel, Niederacher, Diether, Arnold, Norbert ORCID: 0000-0003-4523-8808, Dworniczak, Bernd, Steinemann, Doris, Faust, Ulrike, Rubinstein, Wendy, Hulick, Peter J., Houdayer, Claude, Caputo, Sandrine M., Castera, Laurent, Pesaran, Tina, Chao, Elizabeth, Brewer, Carole, Southey, Melissa C., van Asperen, Christi J., Singer, Christian F., Sullivan, Jan, Poplawski, Nicola, Peto, Julian, Johnson, Nichola, Burwinkel, Barbara, Surowy, Harald ORCID: 0000-0002-3595-9188, Bojesen, Stig E., Flyger, Henrik, Lindblom, Annika, Margolin, Sara, Chang-Claude, Jenny, Rudolph, Anja, Radice, Paolo ORCID: 0000-0001-6298-4111, Galastri, Laura, Olson, Janet E., Hallberg, Emily, Giles, GrahamG., Milne, Roger L., Andrulis, Irene L., Glendon, Gord, Hall, Per, Czene, Kamila, Blows, Fiona, Shah, Mitul, Wang, Qin, Dennis, Joe, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, McGuffog, Lesley, Bolla, Manjeet K., Antoniou, Antonis C., Easton, Douglas F., Couch, Fergus J., Tavtigian, Sean, Vreeswijk, Maaike P., Parsons, Michael ORCID: 0000-0003-3242-8477, Meeks, Huong D., Martins, Alexandra ORCID: 0000-0003-4322-8497, Goldgar, David E. and Spurdle, Amanda B.
(2016).
Combined genetic and splicing analysis of BRCA1 c.[594-2A > C; 641A > G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum. Mol. Genet., 25 (11).
S. 2256 - 2269.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
2014
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
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