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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

This list was generated on Thu Apr 25 14:29:59 2024 CEST.