Universität zu Köln

Journal Article

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

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

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