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Glubb, D M, Maranian, M J, Michailidou, K, Pooley, K A, Meyer, K B, Kar, S, Carlebur, S, O'Reilly, M, Betts, J A, Hillman, K M, Kaufmann, S, Beesley, J, Canisius, S, Hopper, J L, Southey, M C, Tsimiklis, H, Apicella, C, Schmidt, M K, Broeks, A, Hogervorst, F B, Van Der Schoot, C E, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Fasching, P A, Ruebner, M, Ekici, A B, Beckmann, M W, Peto, J, Dos-Santos-Silva, I, Fletcher, O, Johnson, N, Pharoah, P D P, Bolla, M K, Wang, Q, Dennis, J, Sawyer, E J, Tomlinson, I, Kerin, M J, Miller, N, Burwinkel, B, Marme, F, Yang, R, Surowy, H, Guénel, P, Truong, T, Menegaux, F, Sanchez, M, Bojesen, S E, Nordestgaard, B G, Nielsen, S F, Flyger, H, González-Neira, A, Benitez, J, Zamora, M P, Arias Perez, J I, Anton-Culver, H, Neuhausen, S L, Brenner, H, Dieffenbach, A K, Arndt, V, Stegmaier, C, Meindl, A, Schmutzler, R K, Brauch, H, Ko, Y-D, Brüning, T, Nevanlinna, H, Muranen, T A, Aittomaki, K, Blomqvist, C, Matsuo, K, Ito, H, Iwata, H, Tanaka, H, Dork, T, Bogdanova, N V, Helbig, S, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, J M, Wu, A H, Tseng, C-C, Van Den Berg, D, Stram, D O, Lambrechts, D, Zhao, H, Weltens, C, Van Limbergen, E, Chang-Claude, J, Flesch-Janys, D, Rudolph, A, Seibold, P, Radice, P, Peterlongo, P, Barile, M, Capra, F, Couch, F J, Olson, J E, Hallberg, E, Vachon, C, Giles, G G, Milne, R L, McLean, C, Haiman, C A, Henderson, B E, Schumacher, F, Le Marchand, L, Simard, J, Goldberg, M S, Labrache, F, Dumont, M, Teo, S H, Yip, C H, See, M-H, Cornes, B, Cheng, C-Y, Ikram, M K, Kristensen, V, Zheng, W, Halverson, S L, Shrubsole, M, Long, J, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Kauppila, S, Andrulis, I L, Knight, J A, Glendon, G, Tchatchou, S, Devilee, P, Tollenaar, R A E M, Seynaeve, C, Van Asperen, C J, Garcia-Closas, M, Figueroa, J, Chanock, S J, Lissowska, J, Czene, K, Klevebring, D, Darabi, H, Eriksson, M, Hooning, M J, Hollestelle, A, Martens, J W M, Collée, J M, Hall, P, LI, J, Humphreys, K, Shu, X-O, Lu, W, Gao, Y-T, Cai, H, Cox, A, Cross, S S, Reed, M, Blot, W, Signorello, L B, Cai, Q, Shah, M, Ghoussaini, M, Kang, D, Choi, J-Y, Park, S K, Noh, D-Y, Hartman, M, Miao, H, Lim, W Y, Tang, A, Hamann, U, Torres, D, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Sangrajrang, S, Gaborieau, V, Brennan, P, McKay, J, Olswold, C, Slager, S, Toland, A E, Yannoukakos, D, Shen, C-Y, Wu, P-E, Yu, J-C, Hou, M-F, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, Pita, G, Alonso, M R, Ãlvarez, N, Herrero, D, Tessier, D C, Vincent, D, Bacot, F, Luccarini, C, Baynes, C, Ahmed, S, Healey, C S, Brown, M A, Ponder, B A J, Chenevix-Trench, G, Thompson, D J, Edwards, S L, Easton, D F, Dunning, A M and French, J D (2015) Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. American Journal of Human Genetics, 96 (1). pp. 5-20. ISSN 0002-9297

Dyment, David A, Smith, Amanda C, Alcantara, Diana, Schwartzentruber, Jeremy A, Basel-Vanagaite, Lina, Curry, Cynthia J, Temple, I Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R, Gilbert, Rodney, Lehmann, Ordan J, Vanstone, Megan R, Beaulieu, Chandree L, FORGE Canada Consortium, , Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Boycott, Kym M and Inness, A Micheil (2013) Mutations in PIK3R1 cause SHORT syndrome. American Journal of Human Genetics, 93 (1). pp. 158-166. ISSN 0002-9297

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Awadalla, Philip, Gauthier, Julie, Myers, Rachel A, Casals, Ferran, Hamdan, Fadi F, Griffing, Alexander R, Côté, Mélanie, Henrion, Edouard, Spiegelman, Dan, Tarabeux, Julien, Piton, Amélie, Yang, Yan, Boyko, Adam, Bustamante, Carlos, Xiong, Lan, Rapoport, Judith L, Addington, Anjené M, DeLisi, J Lynn E, Krebs, Marie-Odile, Joober, Ridha, Millet, Bruno, Fombonne, Éric, Mottron, Laurent, Zilversmit, Martine, Keebler, Jon, Daoud, Hussein, Marineau, Claude, Roy-Gagnon, Marie-Hélène, Dubé, Marie-Pierre, Eyre-Walker, Adam, Drapeau, Pierre, Stone, Eric A, Lafrenière, Ronald G and Rouleau, Guy A (2010) Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts. American Journal of Human Genetics, 87 (3). pp. 316-324. ISSN 0002-9297

O'Driscoll, Mark, Dobyns, William B, van Hagen, Johanna M and Jeggo, Penny A (2007) Cellular and clinical impact of haploinsufficiency for genes involved in ATR-signaling. American Journal of Human Genetics, 81 (1). pp. 77-86. ISSN 0002-9297

O'Driscoll, Mark, Dobyns, William B, van Hagen, Johanna M and Jeggo, Penny A (2007) Cellular and clinical impact of Haploinsufficiency for genes involved in ATR signaling. American Journal of Human Genetics, 81 (1). pp. 77-86. ISSN 0002-9297

Modamio-Hoybjor, Silvia, Mencía, Ángeles, Goodyear, Richard, del Castillo, Ignacio, Richardson, Guy, Moreno, Felipe and Moreno-Pelayo, Miguel Ángel (2007) A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signalling, causes progressive hearing loss. American Journal of Human Genetics, 80 (6). pp. 1076-1089. ISSN 0002-9297

Mallery, Donna L, Tanganelli, Bianca, Colella, Stefano, Steingrimsdottir, Herdis, van Gool, Alain J, Troelstra, Christine, Stefanini, Miria and Lehmann, Alan R (1998) Molecular Analysis of Mutations in the CSB(ERCC6) Gene in Patients with Cockayne Syndrome. American Journal of Human Genetics, 62 (1). pp. 77-85. ISSN 0002-9297