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Journal Article
Moghadasi, Setareh, Meeks, Huong D., Vreeswijk, Maaike P. G., Janssen, Linda A. M., Borg, Ake, Ehrencrona, Hans 
ORCID: 0000-0002-5589-3622, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Gehrig, Andrea, Arnold, Norbert ORCID: 0000-0003-4523-8808, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, Kruse, Torben A., Ejlertsen, Bent, Gerdes, Anne-Marie ORCID: 0000-0002-0328-3320, Pedersen, Inge Sokilde, Caputo, Sandrine M., Couch, Fergus, Hallberg, Emily J., van den Ouweland, Ans M. W., Collee, Margriet J., Teugels, Erik ORCID: 0000-0002-7828-4555, Adank, Muriel A., van der Luijt, Rob B., Mensenkamp, Arjen R., Oosterwijk, Jan C., Blok, Marinus J., Janin, Nicolas, Claes, Kathleen B. M., Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E., Devilee, Peter ORCID: 0000-0002-8023-2009, Van Asperen, Christie J., Spurdle, Amanda B., Goldgar, David E. and Garcia, Encarna Gomez
(2018).
The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
J. Med. Genet., 55 (1).
S. 15 - 21.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
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
Yang, Xin, Leslie, Goska, Doroszuk, Alicja, Schneider, Sandra, Allen, Jamie ORCID: 0000-0002-8677-2225, Decker, Brennan ORCID: 0000-0003-4516-7421, Dunning, Alison M., Redman, James, Scarth, James ORCID: 0000-0002-0076-6853, Plaskocinska, Inga, Luccarini, Craig, Shah, Mitul, Pooley, Karen, Dorling, Leila, Lee, Andrew, Adank, Muriel A., Adlard, Julian, Aittomaki, Kristiina, Andrulis, Irene L., Ang, Peter, Barwell, Julian, Bernstein, Jonine L., Bobolis, Kristie, Borg, Ake, Blomqvist, Carl ORCID: 0000-0003-3041-1938, Claes, Kathleen B. M., Concannon, Patrick, Cuggia, Adeline, Culver, Julie O., Damiola, Francesca, de Pauw, Antoine, Diez, Orland, Dolinsky, Jill S., Domchek, Susan M., Engel, Christoph ORCID: 0000-0002-7247-282X, Evans, D. Gareth, Fostira, Florentia, Garber, Judy, Golmard, Lisa, Goode, Ellen L., Gruber, Stephen B., Hahnen, Eric, Hake, Christopher, Heikkinen, Tuomas ORCID: 0000-0003-1154-6204, Hurley, Judith E., Janavicius, Ramunas, Kleibl, Zdenek, Kleiblova, Petra, Konstantopoulou, Irene ORCID: 0000-0002-0470-0309, Kvist, Anders, Laduca, Holly, Lee, Ann S. G., Lesueur, Fabienne, Maher, Eamonn R., Mannermaa, Arto, Manoukian, Siranoush, McFarland, Rachel, McKinnon, Wendy, Meindl, Alfons, Metcalfe, Kelly, Taib, Nur Aishah Mohd ORCID: 0000-0001-8419-0478, Moilanen, Jukka, Nathanson, Katherine L., Neuhausen, Susan, Ng, Pei Sze, Nguyen-Dumont, Tu ORCID: 0000-0002-6217-0182, Nielsen, Sarah M., Obermair, Florian, Offit, Kenneth, Olopade, Olufunmilayo, I, Ottini, Laura, Penkert, Judith, Pylkas, Katri, Radice, Paolo, Ramus, Susan J., Rudaitis, Vilius, Side, Lucy, Silva-Smith, Rachel, Silvestri, Valentina, Skytte, Anne-Bine ORCID: 0000-0002-0067-9557, Slavin, Thomas, Soukupova, Jana, Tondini, Carlo, Trainer, Alison H., Unzeitig, Gary, Usha, Lydia, Hansen, Thomas van Overeem, Whitworth, James, Wood, Marie, Yip, Cheng Har, Yoon, Sook-Yee, Yussuf, Amal, Zogopoulos, George, Goldgar, David, Hopper, John L., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Pharoah, Paul, George, Sophia H. L., Balmana, Judith, Houdayer, Claude, James, Paul ORCID: 0000-0002-4361-4657, El-Haffaf, Zaki, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Janatova, Marketa, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Nevanlinna, Heli, Schmutzler, Rita, Teo, Soo-Hwang, Robson, Mark, Pal, Tuya, Couch, Fergus, Weitzel, Jeffrey N., Elliott, Aaron, Southey, Melissa, Winqvist, Robert, Easton, Douglas F., Foulkes, William D., Antoniou, Antonis C. and Tischkowitz, Marc
(2020).
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
J. Clin. Oncol., 38 (7).
S. 674 - 688.
ALEXANDRIA:
AMER SOC CLINICAL ONCOLOGY.
ISSN 1527-7755