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2022
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
2016
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