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Journal Article
Dennis, Joe, Tyrer, Jonathan P., Walker, Logan C., Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Dorling, Leila, Bolla, Manjeet K., Wang, Qin
ORCID: 0000-0002-9139-0627, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Freeman, Laura E. Beane, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia, V, Bojesen, Stig E., Brenner, Hermann
ORCID: 0000-0002-6129-1572, Castelao, Jose E., Chang-Claude, Jenny, Chenevix-Trench, Georgia, Clarke, Christine L., Collee, J. Margriet, Couch, Fergus J., Cox, Angela
ORCID: 0000-0002-5138-1099, Cross, Simon S., Czene, Kamila, Devilee, Peter, Dork, Thilo, Dossus, Laure, Eliassen, A. Heather, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine
ORCID: 0000-0002-5100-623X, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gabrielson, Marike
ORCID: 0000-0002-3171-1556, Gago-Dominguez, Manuela, Garcia-Closas, Montserrat
ORCID: 0000-0003-1033-2650, Giles, Graham G., Gonzalez-Neira, Anna, Guenel, Pascal
ORCID: 0000-0002-8359-518X, Hahnen, Eric, Haiman, Christopher A., Hall, Per, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L., Howell, Anthony, Jager, Agnes, Jakubowska, Anna, John, Esther M., Johnson, Nichola, Jones, Michael E., Jung, Audrey
ORCID: 0000-0003-0875-6673, Kaaks, Rudolf, Keeman, Renske, Khusnutdinova, Elza, Kitahara, Cari M., Ko, Yon-Dschun, Kosma, Veli-Matti, Koutros, Stella
ORCID: 0000-0001-5294-5485, Kraft, Peter, Kristensen, Vessela N., Kubelka-Sabit, Katerina, Kurian, Allison W., Lacey, James, V, Lambrechts, Diether
ORCID: 0000-0002-3429-302X, Larson, Nicole L., Linet, Martha, Ogrodniczak, Alicja, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara
ORCID: 0000-0002-5526-5570, Mavroudis, Dimitrios, Milne, Roger L., Muranen, Taru A., Murphy, Rachel A., Nevanlinna, Heli, Olson, Janet E., Olsson, Hakan, Park-Simon, Tjoung-Won, Perou, Charles M., Peterlongo, Paolo
ORCID: 0000-0001-6951-6855, Plaseska-Karanfilska, Dijana, Pylkas, Katri, Rennert, Gad
ORCID: 0000-0002-8512-068X, Saloustros, Emmanouil
ORCID: 0000-0002-0485-0120, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Shibli, Rana, Smeets, Ann, Soucy, Penny, Southey, Melissa C., Swerdlow, Anthony J., Tamimi, Rulla M., Taylor, Jack A., Teras, Lauren R., Terry, Mary Beth
ORCID: 0000-0002-4106-5033, Tomlinson, Ian, Troester, Melissa A., Truong, Therese, Vachon, Celine M., Wendt, Camilla, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R., Zheng, Wei, Ziogas, Argyrios, Simard, Jacques, Dunning, Alison M., Pharoah, Paul D. P. and Easton, Douglas F.
(2022).
Rare germline copy number variants (CNVs) and breast cancer risk.
Commun. Biol., 5 (1).
BERLIN:
NATURE PORTFOLIO.
ISSN 2399-3642
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
Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Dennis, Joe, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomaki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E. ORCID: 0000-0002-7824-2080, Borde, Julika, Bradbury, Angela R., Brunet, Joan
ORCID: 0000-0003-1945-3512, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen B. M., Collonge-Rame, Marie-Agnes, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans
ORCID: 0000-0002-5589-3622, Engel, Christoph
ORCID: 0000-0002-7247-282X, Evans, D. Gareth, Faust, Ulrike, Feliubadalo, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A., Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hansen, Thomas V. O., Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clementine, Leslie, Goska, Lesueur, Fabienne
ORCID: 0000-0001-7404-4549, Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Martens, John W. M., McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Nambot, Sophie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nguyen-Dumont, Tu, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Pocza, Timea, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rodriguez, Gustavo C., Ronlund, Karina, Rosenberg, Efraim H., Rossing, Maria, Schmutzler, Rita K., Shah, Payal D., Sharif, Saba, Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Snape, Katie, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Tripathi, Vishakha, Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N., Wevers, Marike R., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C. and Walker, Logan C.
(2022).
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Commun. Biol., 5 (1).
BERLIN:
NATURE PORTFOLIO.
ISSN 2399-3642
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
Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Chang-Claude, Jenny, Moysich, Kirsten B., Rudolph, Anja, Schmutzler, Rita K., Simard, Jacques, Soucy, Penny, Eeles, Rosalind A., Easton, Douglas F., Hamann, Ute, Wilkening, Stefan, Chen, Bowang, Rookus, Matti A., Schmidt, MarjankaK., van der Baan, Frederieke H., Spurdle, Amanda B., Walker, Logan C., Lose, Felicity
ORCID: 0000-0001-8337-3547, Maia, Ana-Teresa
ORCID: 0000-0002-0454-9207, Montagna, Marco, Matricardi, Laura
ORCID: 0000-0002-0241-1810, Lubinski, Jan
ORCID: 0000-0003-2931-3003, Jakubowska, Anna
ORCID: 0000-0002-5650-0501, Garcia, Encarna B. Gomez, Olopade, Olufunmilayo I., Nussbaum, Robert L., Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Arun, Banu K., Karlan, Beth Y., Orsulic, Sandra, Lester, Jenny, Chung, Wendy K., Miron, Alex, Southey, Melissa C., Goldgar, David E., Buys, Saundra S., Janavicius, Ramunas, Dorfling, Cecilia M., van Rensburg, Elizabeth J., Ding, Yuan Chun, Neuhausen, Susan L., Hansen, Thomas V. O., Gerdes, Anne-Marie
ORCID: 0000-0002-0328-3320, Ejlertsen, Bent, Jonson, Lars, Osorio, Ana
ORCID: 0000-0001-8124-3984, Martinez-Bouzas, Cristina, Benitez, Javier, Conway, Edye E., Blazer, Kathleen R., Weitzel, Jeffrey N., Manoukian, Siranoush, Peissel, Bernard
ORCID: 0000-0001-9233-3571, Zaffaroni, Daniela
ORCID: 0000-0002-6995-2216, Scuvera, Giulietta, Barile, Monica, Ficarazzi, Filomena, Mariette, Frederique, Fortuzzi, Stefano
ORCID: 0000-0002-5662-3800, Viel, Alessandra
ORCID: 0000-0003-2804-0840, Giannini, Giuseppe
ORCID: 0000-0003-0299-4056, Papi, Laura
ORCID: 0000-0003-4552-9517, Martayan, Aline, Tibiletti, Maria Grazia, Radice, Paolo
ORCID: 0000-0001-6298-4111, Vratimos, Athanassios, Fostira, Florentia, Garber, Judy E., Donaldson, Alan, Brewer, Carole, Foo, Claire, Evans, D. Gareth R., Frost, Debra, Eccles, Diana
ORCID: 0000-0002-9935-3169, Brady, Angela, Cook, Jackie, Tischkowitz, Marc
ORCID: 0000-0002-7880-0628, Adlard, Julian
ORCID: 0000-0002-1693-0435, Barwell, Julian, Walker, Lisa, Izatt, Louise, Side, Lucy E., Kennedy, M. John, Rogers, Mark T., Porteous, Mary E., Morrison, Patrick J., Platte, Radka, Davidson, Rosemarie, Hodgson, Shirley V., Ellis, Steve, Cole, Trevor, Godwin, Andrew K., Claes, Kathleen
ORCID: 0000-0003-0841-7372, Van Maerken, Tom, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph
ORCID: 0000-0002-7247-282X, Niederacher, Dieter, Steinemann, Doris, Plendl, Hansjoerg, Kast, Karin, Rhiem, Kerstin, Ditsch, Nina, Arnold, Norbert
ORCID: 0000-0003-4523-8808, Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Wang-Gohrke, Shan, Bressac-de Paillerets, Brigitte, Buecher, Bruno, Delnatte, Capucine, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Damiola, Francesca
ORCID: 0000-0002-0238-1252, Coupier, Isabelle, Barjhoux, Laure, Venat-Bouvet, Laurence, Golmard, Lisa, Boutry-Kryza, Nadia, Sinilnikova, Olga M., Caron, Olivier, Pujol, Pascal, Mazoyer, Sylvie
ORCID: 0000-0002-2135-0160, Belotti, Muriel, Piedmonte, Marion, Friedlander, Michael L., Rodriguez, Gustavo C., Copeland, Larry J., de la Hoya, Miguel
ORCID: 0000-0002-8113-1410, Perez Segura, Pedro, Nevanlinna, Heli
ORCID: 0000-0002-0916-2976, Aittomaeki, Kristiina, van Os, Theo A. M., Meijers-Heijboer, Hanne E. J., van der Hout, Annemarie H., Vreeswijk, Maaike P. G., Hoogerbrugge, Nicoline
ORCID: 0000-0003-2393-8141, Ausems, Margreet G. E. M., van Doorn, Helena C., Collee, J. Margriet, Olah, Edith, Diez, Orland, Blanco, Ignacio
ORCID: 0000-0002-7414-7481, Lazaro, Conxi, Brunet, Joan
ORCID: 0000-0003-1945-3512, Feliubadalo, Lidia
ORCID: 0000-0002-1736-0112, Cybulski, Cezary, Gronwald, Jacek
ORCID: 0000-0002-3643-2871, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Sukiennicki, Grzegorz, Arason, Adalgeir, Chiquette, Jocelyne, Teixeira, Manuel R., Olswold, Curtis, Couch, Fergus J., Lindor, Noralane M., Wang, Xianshu, Szabo, Csilla I., Offit, Kenneth, Corines, Marina, Jacobs, Lauren, Robson, Mark E., Zhang, Liying, Joseph, Vijai
ORCID: 0000-0002-7933-151X, Berger, Andreas, Singer, Christian F., Rappaport, Christine, Kaulich, Daphne Geschwantler, Pfeiler, Georg, Tea, Muy-Kheng M., Phelan, Catherine M., Greene, Mark H., Mai, Phuong L., Rennert, Gad, Mulligan, Anna Marie
ORCID: 0000-0002-7239-5297, Glendon, Gord, Tchatchou, Sandrine, Andrulis, Irene L., Toland, Amanda Ewart, Bojesen, Anders
ORCID: 0000-0003-4289-8595, Pedersen, Inge Sokilde
ORCID: 0000-0002-9902-8040, Thomassen, Mads, Jensen, Uffe Birk
ORCID: 0000-0002-6205-6355, Laitman, Yael, Rantala, Johanna, von Wachenfeldt, Anna, Ehrencrona, Hans
ORCID: 0000-0002-5589-3622, Askmalm, Marie Stenmark, Borg, Ake, Kuchenbaecker, Karoline B., McGuffog, Lesley, Barrowdale, Daniel
ORCID: 0000-0003-1661-3939, Healey, Sue, Lee, Andrew, Pharoah, Paul D. P., Chenevix-Trench, Georgia
ORCID: 0000-0002-1878-2587, Antoniou, Antonis C. and Friedman, Eitan
(2015).
Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
Cancer Epidemiol. Biomarkers Prev., 24 (1).
S. 308 - 317.
PHILADELPHIA:
AMER ASSOC CANCER RESEARCH.
ISSN 1538-7755
Thomassen, Mads, Mesman, Romy L. S., Hansen, Thomas V. O., Menendez, Mireia, Rossing, Maria, Esteban-Sanchez, Ada ORCID: 0000-0002-1850-590X, Tudini, Emma
ORCID: 0000-0002-5834-7862, Torngren, Therese, Parsons, Michael T., Pedersen, Inge S., Teo, Soo H., Kruse, Torben A., Moller, Pal, Borg, Ake, Jensen, Uffe B., Christensen, Lise L., Singer, Christian F., Muhr, Daniela, Santamarina, Marta, Brandao, Rita, Andresen, Brage S., Feng, Bing-Jian, Canson, Daffodil
ORCID: 0000-0002-8104-822X, Richardson, Marcy E., Karam, Rachid, Pesaran, Tina, LaDuca, Holly, Conner, Blair R., Abualkheir, Nelly, Hoang, Lily, Calleja, Fabienne M. G. R., Andrews, Lesley, James, Paul A., Bunyan, Dave, Hamblett, Amanda, Radice, Paolo, Goldgar, David E., Walker, Logan C., Engel, Christoph
ORCID: 0000-0002-7247-282X, Claes, Kathleen B. M., Machackova, Eva
ORCID: 0000-0002-0246-1471, Baralle, Diana, Viel, Alessandra, Wappenschmidt, Barbara, Lazaro, Conxi, Vega, Ana, Vreeswijk, Maaike P. G., de la Hoya, Miguel and Spurdle, Amanda B.
(2022).
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum. Mutat., 43 (12).
S. 1921 - 1945.
LONDON:
WILEY-HINDAWI.
ISSN 1098-1004
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