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Journal Article
Kayser, Katrin, Degenhardt, Franziska, Holzapfel, Stefanie, Horpaopan, Sukanya, Peters, Sophia, Spier, Isabel, Morak, Monika, Vangala, Deepak, Rahner, Nils, von Knebel-Doeberitz, Magnus, Schackert, Hans K., Engel, Christoph 
ORCID: 0000-0002-7247-282X, Buettner, Reinhard, Wijnen, Juul, Doerks, Tobias, Bork, Peer, Moebus, Susanne, Herms, Stefan ORCID: 0000-0002-2786-8200, Fischer, Sascha, Hoffmann, Per, Aretz, Stefan ORCID: 0000-0002-5228-1890 and Steinke-Lange, Verena
(2018).
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
Int. J. Cancer, 143 (11).
S. 2800 - 2814.
HOBOKEN:
WILEY.
ISSN 1097-0215
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