Year Authors/Creators Item Type Full Text

2018

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. (2018) Colombo, Mara; Lòpez-Perolio, Irene; Meeks, Huong D; Caleca, Laura; Parsons, Michael T; Li, Hongyan; De Vecchi, Giovanna; Tudini, Emma; Foglia, Claudia; Mondini, Patrizia; Manoukian, Siranoush; Behar, Raquel; Garcia, Encarna B Gómez; Meindl, Alfons; Montagna, Marco; Niederacher, Dieter; Schmidt, Ane Y; Varesco, Liliana; Wappenschmidt, Barbara; Bolla, Manjeet K; Dennis, Joe; Michailidou, Kyriaki; Wang, Qin; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Beeghly-Fadel, Alicia; Benitez, Javier; Boeckx, Bram; Bogdanova, Natalia V; Bojesen, Stig E; Bonanni, Bernardo; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Chang-Claude, Jenny; Conroy, Don M; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Eriksson, Mikael; Fasching, Peter A; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Gabrielson, Marike; García-Closas, Montserrat; Giles, Graham G; González-Neira, Anna; Guénel, Pascal; Haiman, Christopher A; Hall, Per; Hamann, Ute; Hartman, Mikael; Hauke, Jan; Hollestelle, Antoinette; Hopper, John L; Jakubowska, Anna; Jung, Audrey; Kosma, Veli-Matti; Lambrechts, Diether; Le Marchand, Loid; Lindblom, Annika; Lubinski, Jan; Mannermaa, Arto; Margolin, Sara; Miao, Hui; Milne, Roger L; Neuhausen, Susan L; Nevanlinna, Heli; Olson, Janet E; Peterlongo, Paolo; Peto, Julian; Pylkäs, Katri; Sawyer, Elinor J; Schmidt, Marjanka K; Schmutzler, Rita K; Schneeweiss, Andreas; Schoemaker, Minouk J; See, Mee Hoong; Southey, Melissa C; Swerdlow, Anthony; Teo, Soo H; Toland, Amanda E; Tomlinson, Ian; Truong, Thérèse; van Asperen, Christi J; van den Ouweland, Ans MW; van der Kolk, Lizet E; Winqvist, Robert; Yannoukakos, Drakoulis; Zheng, Wei; kConFab/AOCS Investigators; Dunning, Alison M; Easton, Douglas F; Henderson, Alex; Hogervorst, Frans BL; Izatt, Louise; Offitt, Kenneth; Side, Lucy E; van Rensburg, Elizabeth J; Embrace, Study; Hebon, Study; McGuffog, Lesley; Antoniou, Antonis C; Chenevix-Trench, Georgia; Spurdle, Amanda B; Goldgar, David E; Hoya, Miguel de la; Radice, Paolo

2012

11q13 is a susceptibility locus for hormone receptor positive breast cancer. (2012) Lambrechts, Diether; Truong, Therese; Justenhoven, Christina; Humphreys, Manjeet K; Wang, Jean; Hopper, John L; Dite, Gillian S; Apicella, Carmel; Southey, Melissa C; Schmidt, Marjanka K; Broeks, Annegien; Cornelissen, Sten; van Hien, Richard; Sawyer, Elinor; Tomlinson, Ian; Kerin, Michael; Miller, Nicola; Milne, Roger L; Zamora, M Pilar; Pérez, José Ignacio Arias; Benítez, Javier; Hamann, Ute; Ko, Yon-Dschun; Brüning, Thomas; GENICA Network; Chang-Claude, Jenny; Eilber, Ursel; Hein, Rebecca; Nickels, Stefan; Flesch-Janys, Dieter; Wang-Gohrke, Shan; John, Esther M; Miron, Alexander; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Chenevix-Trench, Georgia; Beesley, Jonathan; Chen, Xiaoqing; Investigators kConFab; Australian Ovarian Cancer Study Group; Menegaux, Florence; Cordina-Duverger, Emilie; Shen, Chen-Yang; Yu, Jyh-Cherng; Wu, Pei-Ei; Hou, Ming-Feng; Andrulis, Irene L; Selander, Teresa; Glendon, Gord; Mulligan, Anna Marie; Anton-Culver, Hoda; Ziogas, Argyrios; Muir, Kenneth R; Lophatananon, Artitaya; Rattanamongkongul, Suthee; Puttawibul, Puttisak; Jones, Michael; Orr, Nicholas; Ashworth, Alan; Swerdlow, Anthony; Severi, Gianluca; Baglietto, Laura; Giles, Graham; Southey, Melissa; Marmé, Federik; Schneeweiss, Andreas; Sohn, Christof; Burwinkel, Barbara; Yesilyurt, Betul T; Neven, Patrick; Paridaens, Robert; Wildiers, Hans; Brenner, Hermann; Müller, Heiko; Arndt, Volker; Stegmaier, Christa; Meindl, Alfons; Schott, Sarah; Bartram, Claus R; Schmutzler, Rita K; Cox, Angela; Brock, Ian W; Elliott, Graeme; Cross, Simon S; Fasching, Peter A; Schulz-Wendtland, Ruediger; Ekici, Arif B; Beckmann, Matthias W; Fletcher, Olivia; Johnson, Nichola; Silva, Isabel Dos Santos; Peto, Julian; Nevanlinna, Heli; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Dörk, Thilo; Schürmann, Peter; Bremer, Michael; Hillemanns, Peter; Bogdanova, Natalia V; Antonenkova, Natalia N; Rogov, Yuri I; Karstens, Johann H; Khusnutdinova, Elza; Bermisheva, Marina; Prokofieva, Darya; Gancev, Shamil; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Nordestgaard, Børge G; Bojesen, Stig E; Lanng, Charlotte; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Radice, Paolo; Peterlongo, Paolo; Manoukian, Siranoush; Bernard, Loris; Couch, Fergus J; Olson, Janet E; Wang, Xianshu; Fredericksen, Zachary; Alnaes, Grethe Grenaker; Kristensen, Vessela; Børresen-Dale, Anne-Lise; Devilee, Peter; Tollenaar, Robert AEM; Seynaeve, Caroline M; Hooning, Maartje J; García-Closas, Montserrat; Chanock, Stephen J; Lissowska, Jolanta; Sherman, Mark E; Hall, Per; Liu, Jianjun; Czene, Kamila; Kang, Daehee; Yoo, Keun-Young; Noh, Dong-Young; Lindblom, Annika; Margolin, Sara; Dunning, Alison M; Pharoah, Paul DP; Easton, Douglas F; Guénel, Pascal; Brauch, Hiltrud

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe. (2012) Rubio, Justin P; Topp, Simon; Warren, Liling; St Jean, Pamela L; Wegmann, Daniel; Kessner, Darren; Novembre, John; Shen, Judong; Fraser, Dana; Aponte, Jennifer; Nangle, Keith; Cardon, Lon R; Ehm, Margaret G; Chissoe, Stephanie L; Whittaker, John C; Nelson, Matthew R; Mooser, Vincent E

2011

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies. (2011) McKay, Gareth J; Patterson, Chris C; Chakravarthy, Usha; Dasari, Shilpa; Klaver, Caroline C; Vingerling, Johannes R; Ho, Lintje; de Jong, Paulus TVM; Fletcher, Astrid E; Young, Ian S; Seland, Johan H; Rahu, Mati; Soubrane, Gisele; Tomazzoli, Laura; Topouzis, Fotis; Vioque, Jesus; Hingorani, Aroon D; Sofat, Reecha; Dean, Michael; Sawitzke, Julie; Seddon, Johanna M; Peter, Inga; Webster, Andrew R; Moore, Anthony T; Yates, John RW; Cipriani, Valentina; Fritsche, Lars G; Weber, Bernhard HF; Keilhauer, Claudia N; Lotery, Andrew J; Ennis, Sarah; Klein, Michael L; Francis, Peter J; Stambolian, Dwight; Orlin, Anton; Gorin, Michael B; Weeks, Daniel E; Kuo, Chia-Ling; Swaroop, Anand; Othman, Mohammad; Kanda, Atsuhiro; Chen, Wei; Abecasis, Goncalo R; Wright, Alan F; Hayward, Caroline; Baird, Paul N; Guymer, Robyn H; Attia, John; Thakkinstian, Ammarin; Silvestri, Giuliana

2007

Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE. (2007) Alharbi, Khalid K; Spanakis, Emmanuel; Tan, Karen; Smith, Matt J; Aldahmesh, Mohammed A; O'Dell, Sandra D; Sayer, Avan Aihie; Lawlor, Debbie A; Ebrahim, Shah; Davey Smith, George; O'Rahilly, Stephen; Farooqi, Sadaf; Cooper, Cyrus; Phillips, David IW; Day, Ian NM