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Antoniou, Antonis C., Wang, Xianshu, Fredericksen, Zachary S., McGuffog, Lesley, Tarrell, Robert, Sinilnikova, Olga M., Healey, Sue, Morrison, Jonathan, Kartsonaki,Christiana, Lesnick, Timothy, Ghoussaini, Maya, Barrowdale, Daniel, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Eccles, Diana, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Chu, Carol, Douglas, Fiona, Paterson, Joan, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Mazoyer, Sylvie, Giraud, Sophie, Lasset, Christine, Remenieras, Audrey, Caron, Olivier, Hardouin, Agnes, Berthet, Pascaline, Hogervorst, Frans B. L., Rookus, Matti A., Jager, Agnes, van den Ouweland, Ans, Hoogerbrugge, Nicoline, van der Luijt, Rob B., Meijers-Heijboer, Rob B., Gomez Garcia, Encarna B., Devilee, Peter, Vreeswijk, Maaike P. G., Lubinski, Jan, Jakubowska, Anna, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Gorski, Bohdan, Cybulski, Cezary, Spurdle, Amanda B., Holland, Helene, Goldgar, David E., John, Esther M., Hopper, John L., Southey, Melissa, Buys,Saundra S., Daly,Mary B., Terry, Mary-Beth, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Preisler-Adams, Sabine, Arnold, Norbert, Niederacher, Dieter, Sutter, Christian, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy, Blum, Joanne L., Piedmonte, Marion, Rodriguez, Gustavo C., Wakeley, Katie, Boggess, John F., Basil, Jack, Blank, Stephanie V., Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Andrulism, Irene L., Glendon, Gord, Ozcelik, Hilmi, Kirchhoff, Tomas, Vijai, Joseph, Gaudet, Mia M., Altshuler, David, Guiducci, Candace, Loman, Niklas, Harbst, Katja, Rantala, Johanna, Ehrencrona, Hans, Gerdes, Anne-Marie, Thomassen, Mads, Sunde, Lone, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Viel, Alessandra, Radice, Paolo, Caldes, Trinidad, de la Hoya, Miguel, Singer, Christian F., Fink-Retter, Anneliese, Greene,Mark H., L. Mai, Phuong, Loud, Jennifer T., Guidugli, Lucia, Lindor, Noralane M., Hansen, Thomas V. O., Nielsen, Finn C., Blanco, Ignacio, Lazaro,Conxi, Garber, Judy, Ramus, Susan J., Gayther, Simon A., Phelan, Catherine, Narod, Stephen, Szabo, Csilla I ., Benitez, Javier, Osorio, Ana, Nevanlinna,Heli, Heikkinen, Tuomas, Caligo, Maria A., Beattie,Mary S., Hamann,Ute, Godwin, Andrew K., Montagna, Marco, Casella, Cinzie, Neuhausen, Susan L., Karlan, Beth Y., Tung, Nadine, Toland, Amanda E ., Weitzel, Jeffrey, Olopade, Olofunmilayo, Simard, Jacques, Soucy, Penny, Rubinstein, Wendy S., Arason, Adalgeir, Rennert, Gad, Martin, Nicholas G., Montgomery, Grant W., Chang-Claude,Jenny, Flesch-Janys, Dieter, Brauch, Hiltrud, Severi, Gianluca, Baglietto, Laura, Cox, Angela, Cross, Simon S., Miron, Penelope, Gerty, Sue M, Tapper, William, Yannoukakos, Drakoulis, Fountzilas, George, Fasching, Peter A., Beckmann, Matthias W., dos Santos Silva, Isabel, Peto, Julian, Lambrechts, Diether, Paridaens, Robert, Rudiger, Thomas, Forsti, Asta, Winqvist, Robert, Pylkas, Katri, Diasio, Robert B., Lee, Adam M., Eckel-Passow, Jeanette, Vachon, Celine, Blows, Fiona, Driver, Kristy, Dunning, Alison, Pharoah, Paul P. D., Offit, Kenneth, Pankratz, V. Shane, Hakonarson, Hakon, Chenevix-Trench, Georgia, Easton,Douglas F., Couch, Fergus J., EMBRACE, GEMO Study Collaborators, HEBON, kConFab, SWE-BRCA, MOD SQUAD, GENICA, Brown, Melissa, Cummings, Margaret and Lakhani, Sunil (2010) A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population. Nature Genetics, 42 10: 885-892. doi:10.1038/ng.669 229 5 126 Cited 125 times in Scopus125 25
Spurdle, Amanda B., Whiley, Phillip J., Thompson, Bryony, Feng, Bingjian, Healey, Sue, Brown, Melissa A., Pettigrew, Christopher, kConFab, Van Asperen, Christi J., Ausems, Margreet G. E. M., Kattentidt-Mouravieva, Anna A., Pigg, Maritta H., Schmutzler, Rita K., Engel, Christoph, Meindl, Alfons, German Consortium of Hereditary Breast and Ovarian Cancer, Caputo, Sandrine, Sinilnikova, Olga M., Lidereau, Rosette, French COVAR group collaborators, Couch, Fergus J., Guidugli, Lucia, van Overeem Hansen, Thomas, Thomassen, Mads, Eccles, Diana M., Tucker, Kathy, Benitez, Javier, Domchek, Susan M., Toland, Amanda E., Van Rensburg, Elizabeth J., Wappenschmidt, Barbara, Borg, Åke, Vreeswijk, Maaike P. G ., Goldgar, David E. and ENIGMA Consortium (2012) BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. Journal of Medical Genetics, 49 8: 525-532. doi:10.1136/jmedgenet-2012-101037 98 1 13 Cited 15 times in Scopus15 1
Whiley, Phillip J., De La Hoya, Miguel, Thomassen, Mads, Becker, Alexandra, Brandão, Rita, Sokilde Pedersen, Inge, Montagna, Marco, Menéndez, Mireia, Quiles, Francisco, Gutiérrez-Enríquez, Sara, De Leeneer, Kim, Tenés, Anna, Montalban, Gemma, Tserpelis, Demis, Yoshimatsu, Toshio, Tirapo, Carole, Raponi, Michela, Caldes, Trinidad, Blanco, Ana, Santamariña, Marta, Guidugli, Lucia, Ruiz de Garibay, Gorka, Wong, Ming, Tancredi, Mariella, Fachal, Laura, Chun Ding, Yuan, Kruse, Torben, Lattimore, Vanessa, Kwong, Ava, Leung Chan, Tsun, Colombo, Mara, De Vecchi, Giovanni, Caligo, Maria, Baralle, Diana, Lázaro, Conxi, Couch, Fergus, Radice, Paolo, Southey, Melissa C., Neuhausen, Susan, Houdayer, Claude, Fackenthal, Jim, Van Overeem Hansen, Thomas, Vega, Ana, Diez, Orland, Blok, Rien, Claes, Kathleen, Wappenschmidt, Barbara, Walker, Logan, 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. Clinical Chemistry, 60 2: 341-352. doi:10.1373/clinchem.2013.210658 27   3 Cited 4 times in Scopus4 1
Whiley, Phillip J., Guidugli, Lucia, Walker, Logan C., Healey, Sue, Thompson, Bryony A., Lakhani, Sunil R., Da Silva, Leonard M., kConFab Investigators, Tavtigian, Sean V., Goldgar, David E., Brown, Melissa A., Couch, Fergus J. and Spurdle, Amanda B. (2011) Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Human Mutation, 32 6: 678-687. doi:10.1002/humu.21495 88   16 Cited 18 times in Scopus18 0