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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
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