De novo truncating mutations in WASF1 cause intellectual disability with seizures by Ito, Y, Carss, KJ, Duarte, ST, Hartley, T, Keren, B, Kurian, MA, Marey, I, Charles, P, Mendonça, C, Nava, C, Pfundt, R, Sanchis-Juan, A, Van Bokhoven, H, Van Essen, A, Van Ravenswaaij-Arts, C, Boycott, KM, Kernohan, KD, Dyack, S, Raymond, FL, Aitman, T, Bennett, D, Caulfield, M, Chinnery, P, Gale, D, Koziell, A, Kuijpers, TW, Laffan, MA, Maher, E, Markus, HS, Morrell, NW, Ouwehand, WH, Perry, DJ, Raymond, FL, Roberts, I, Smith, KGC, Thrasher, A, Watkins, H, Williamson, C, Woods, G, Ashford, S, Bradley, JR, Fletcher, D, Hammerton, T, James, R, Kingston, N, Penkett, CJ, Stirrups, K, Veltman, M, Young, T, Brown, M, Clements-Brod, N, Davis, J, Dewhurst, E, Dolling, H, Erwood, M, Frary, A, Linger, R, Martin, JM, Papadia, S, Rehnstrom, K, Stark, H, Allsup, D, Austin, S, Bakchoul, T, Bariana, TK, Bolton-Maggs, P, Chalmers, E, Collins, J, Collins, P, Erber, WN, Everington, T, Favier, R, Freson, K, Furie, B, Gattens, M, Gebhart, J, Gomez, K, Greene, D, Greinacher, A, Gresele, P, Hart, D, Heemskerk, JWM, Henskens, Y, Kazmi, R, Keeling, D, Kelly, AM, Lambert, MP, Lentaigne, C, Liesner, R, Makris, M, Mangles, S, Mathias, M, Millar, CM, Mumford, A, Nurden, P, Payne, J, Pasi, J, Peerlinck, K, Revel-Vilk, S, Richards, M, Rondina, M, Roughley, C, Schulman, S, Schulze, H, Scully, M, Sivapalaratnam, S, Stubbs, M, Tait, RC, Talks, K, Thachil, J, Toh, C-H, Turro, E, Van Geet, C, De Vries, M, Warner, TQ, Watson, H, Westbury, S, Furnell, A, Mapeta, R, Rayner-Matthews, P, Simeoni, I, Staines, S, Stephens, J, Watt, C, Whitehorn, D, Attwood, A, Daugherty, L, Deevi, SVV, Halmagyi, C, Hu, F, Matser, V, Meacham, S, Megy, K, Shamardina, O, Titterton, C, Tuna, S, Yu, P, Von Ziegenweldt, J, Astle, W, Bleda, M, Carss, KJ, Gräf, S, Haimel, M, Lango-Allen, H, Richardson, S, Calleja, P, Rankin, S, Turek, W, Anderson, J, Bryson, C, Carmichael, J, McJannet, C, Stock, S, Allen, L, Ambegaonkar, G, Armstrong, R, Arno, G, Bitner-Glindzicz, M, Brady, A, Canham, N, Chitre, M, Clement, E, Clowes, V, Deegan, P, Deshpande, C, Doffinger, R, Firth, H, Flinter, F, French, C, Gardham, A, Ghali, N, Gissen, P, Grozeva, D, Henderson, R, Hensiek, A, Holden, S, Holder, M, Holder, S, Hurst, J, Josifova, D, Krishnakumar, D, Kurian, MA, Lees, M, Maclaren, R, Maw, A, Mehta, S, Michaelides, M, Moore, A, Murphy, E, Park, S-M, Parker, A, Patch, C, Paterson, J, Rankin, J, Reid, E, Rosser, E, Sanchis-Juan, A, Sandford, R, Santra, S, Scott, R, Sohal, A, Stein, P, Thomas, E, Thompson, D, Tischkowitz, M, Vogt, J, Wakeling, E, Wassmer, E, Webster, A, Ali, S, Ali, S, Boggard, HJ, Church, C, Coghlan, G, Cookson, V, Corris, PA, Creaser-Myers, A, Dacosta, R, Dormand, N, Eyries, M, Gall, H, Ghataorhe, PK, Ghio, S, Ghofrani, A, Gibbs, JSR, Girerd, B, Greenhalgh, A, Hadinnapola, C, Houweling, AC, Humbert, M, Veld, AH, Kennedy, F, Kiely, DG, Kovacs, G, Lawrie, A, Ross, RVM, Machado, R, Masati, L, Meehan, S, Moledina, S, Montani, D, Othman, S, Peacock, AJ, Pepke-Zaba, J, Pollock, V, Polwarth, G, Ranganathan, L, Rhodes, CJ, Rue-Albrecht, K, Schotte, G, Shipley, D, Soubrier, F, Southgate, L, Scelsi, L, Suntharalingam, J, Tan, Y, Toshner, M, Treacy, CM, Trembath, R, Noordegraaf, AV, Walker, S, Wanjiku, I, Wharton, J, Wilkins, M, Wort, SJ, Yates, K, Alachkar, H, Antrobus, R, Arumugakani, G, Bacchelli, C, Baxendale, H, Bethune, C, Bibi, S, Booth, C, Browning, M, Burns, S, Chandra, A, Cooper, N, Davies, S, Devlin, L, Drewe, E, Edgar, D, Egner, W, Ghurye, R, Gilmour, K, Goddard, S, Gordins, P, Grigoriadou, S, Hackett, S, Hague, R, Harper, L, Hayman, G, Herwadkar, A, Huissoon, A, Jolles, S, Kelleher, P, Kumararatne, D, Lear, S, Longhurst, H, Lorenzo, L, Maimaris, J, Manson, A, McDermott, E, Murng, S, Nejentsev, S, Noorani, S, Oksenhendler, E, Ponsford, M, Qasim, W, Quinti, I, Richter, A, Samarghitean, C, Sargur, R, Savic, S, Seneviratne, S, Sewell, C, Staples, E, Stauss, H, Thaventhiran, J, Thomas, M, Welch, S, Willcocks, L, Yeatman, N, Yong, P, Ancliff, P, Babbs, C, Layton, M, Louka, E, McGowan, S, Mead, A, Roy, N, Chambers, J, Dixon, P, Estiu, C, Hague, B, Marschall, H-U, Simpson, M, Chong, S, Emmerson, I, Ginsberg, L, Gosal, D, Hadden, R, Horvath, R, Mahdi-Rogers, M, Manzur, A, Marshall, A, Matthews, E, McCarthy, M, Reilly, M, Renton, T, Rice, A, Themistocleous, A, Vale, T, Van Zuydam, N, Walker, S, Ormondroyd, L, Hudson, G, Wei, W, Man, P, Whitworth, J, Afzal, M, Colby, E, Saleem, M, Alavijeh, OS, Cook, HT, Johnson, S, Levine, AP, Wong, EKS, Tan, R, Boycott, KM, Mackenzie, A, Majewski, J, Brudno, M, Bulman, D, Dyment, D

Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes by Whitworth, J, Smith, PS, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, RT, Armstrong, R, Cole, T, Evans, DG, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, KR, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, ER, Tischkowitz, MD, Maher, ER, Aitman, T, Alachkar, H, Ali, S, Allen, L, Allsup, D, Ambegaonkar, G, Anderson, J, Antrobus, R, Armstrong, R, Arno, G, Arumugakani, G, Ashford, S, Astle, W, Attwood, A, Austin, S, Bacchelli, C, Bakchoul, T, Bariana, TK, Baxendale, H, Bennett, D, Bethune, C, Bibi, S, Bitner-Glindzicz, M, Bleda, M, Boggard, H, Bolton-Maggs, P, Booth, C, Bradley, JR, Brady, A, Brown, M, Browning, M, Bryson, C, Burns, S, Calleja, P, Canham, N, Carmichael, J, Carss, K, Caulfield, M, Chalmers, E, Chandra, A, Chinnery, P, Chitre, M, Church, C, Clement, E, Clements-Brod, N, Clowes, V, Coghlan, G, Collins, P, Cookson, V, Cooper, N, Corris, P, Creaser-Myers, A, Dacosta, R, Daugherty, L, Davies, S, Davis, J, De Vries, M, Deegan, P, Deevi, SVV, Deshpande, C, Devlin, L, Dewhurst, E, Dixon, P, Doffinger, R, Dormand, N, Drewe, E, Edgar, D, Egner, W, Erber, WN, Erwood, M, Erwood, M, Everington, T, Favier, R, Firth, H, Fletcher, D, Flinter, F, Frary, A, Freson, K, Furie, B, Furnell, A, Gale, D, Gardham, A, Gattens, M, Ghali, N, Ghataorhe, PK, Ghurye, R, Gibbs, S, Gilmour, K, Gissen, P, Goddard, S, Gomez, K, Gordins, P, Graf, S, Gräf, S, Greene, D, Greenhalgh, A, Greinacher, A, Grigoriadou, S, Grozeva, D, Hackett, S, Hadinnapola, C, Hague, R, Haimel, M, Halmagyi, C, Hammerton, T, Hart, D, Hayman, G, Heemskerk, JWM, Henderson, R, Hensiek, A, Henskens, Y, Herwadkar, A, Holden, S, Holder, M, Holder, S, Hu, F, Veld, A, Huissoon, A, Humbert, M, Hurst, J, James, R, Jolles, S, Josifova, D, Kazmi, R, Keeling, D, Kelleher, P, Kelly, AM, Kennedy, F, Kiely, D, Kingston, N, Koziell, A, Krishnakumar, D, Kuijpers, TW, Kuijpers, T, Kumararatne, D, Kurian, M, Laffan, MA, Lambert, MP, Allen, HL, Lango-Allen, H, Lawrie, A, Lear, S, Lees, M, Lentaigne, C, Liesner, R, Linger, R, Longhurst, H, Lorenzo, L, Louka, E, Machado, R, Ross, RM, Maclaren, R, Maher, E, Maimaris, J, Mangles, S, Manson, A, Mapeta, R, Markus, HS, Martin, J, Masati, L, Mathias, M, Matser, V, Maw, A, McDermott, E, McJannet, C, Meacham, S, Meehan, S, Megy, K, Mehta, S, Michaelides, M, Millar, CM, Moledina, S, Moore, A, Morrell, N, Mumford, A, Murng, S, Murphy, E, Nejentsev, S, Noorani, S, Nurden, P, Oksenhendler, E, Othman, S, Ouwehand, WH, Ouwehand, WH, Papadia, S, Park, S-M, Parker, A, Pasi, J, Patch, C, Paterson, J, Payne, J, Peacock, A, Peerlinck, K, Penkett, CJ, Pepke-Zaba, J, Perry, D, Perry, DJ, Pollock, V, Polwarth, G, Ponsford, M, Qasim, W, Quinti, I, Rankin, S, Rankin, J, Raymond, FL, Rayner-Matthews, P, Rehnstrom, K, Reid, E, Rhodes, CJ, Richards, M, Richardson, S, Richter, A, Roberts, I, Rondina, M, Rosser, E, Roughley, C, Roy, N, Rue-Albrecht, K, Samarghitean, C, Sanchis-Juan, A, Sandford, R, Santra, S, Sargur, R, Savic, S, Schotte, G, Schulman, S, Schulze, H, Scott, R, Scully, M, Seneviratne, S, Sewell, C, Shamardina, O, Shipley, D, Simeoni, I, Sivapalaratnam, S, Smith, KGC, Sohal, A, Southgate, L, Staines, S, Staples, E, Stark, H, Stauss, H, Stein, P, Stephens, J, Stirrups, K, Stock, S, Suntharalingam, J, Talks, K, Tan, Y, Thachil, J, Thaventhiran, J, Thomas, E, Thomas, M, Thompson, D, Thrasher, A, Tischkowitz, M, Titterton, C, Toh, C-H, Toshner, M, Treacy, C, Trembath, R, Tuna, S, Turek, W, Turro, E, Van Geet, C, Veltman, M, Vogt, J, Von Ziegenweldt, J, Noordegraaf, AV, Wakeling, E, Wanjiku, I, Warner, TQ, Wassmer, E, Watkins, H, Watt, C, Webster, N, Welch, S, Westbury, S, Wharton, J, Whitehorn, D, Wilkins, M, Willcocks, L, Williamson, C, Woods, G, Woods, G, Wort, J, Yeatman, N, Yong, P, Young, T, Yu, P

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer by Milne, RL, Kuchenbaecker, KB, Michailidou, K, Beesley, J, Kar, S, Lindström, S, Hui, S, Lemaçon, A, Soucy, P, Dennis, J, Jiang, X, Rostamianfar, A, Finucane, H, Bolla, MK, McGuffog, L, Wang, Q, Aalfs, CM, Abctb Investigators, Adams, M, Adlard, J, Agata, S, Ahmed, S, Ahsan, H, Aittomäki, K, Al-Ejeh, F, Allen, J, Ambrosone, CB, Amos, CI, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arndt, V, Arnold, N, Aronson, KJ, Auber, B, Auer, PL, Ausems, MGEM, Azzollini, J, Bacot, F, Balmaña, J, Barile, M, Barjhoux, L, Barkardottir, RB, Barrdahl, M, Barnes, D, Barrowdale, D, Baynes, C, Beckmann, MW, Benitez, J, Bermisheva, M, Bernstein, L, Bignon, Y-J, Blazer, KR, Blok, MJ, Blomqvist, C, Blot, W, Bobolis, K, Boeckx, B, Bogdanova, NV, Bojesen, A, Bojesen, SE, Bonanni, B, Børresen-Dale, A-L, Bozsik, A, Bradbury, AR, Brand, JS, Brauch, H, Brenner, H, Paillerets, B, Brewer, C, Brinton, L, Broberg, P, Brooks-Wilson, A, Brunet, J, Brüning, T, Burwinkel, B, Buys, SS, Byun, J, Cai, Q, Caldés, T, Caligo, MA, Campbell, I, Canzian, F, Caron, O, Carracedo, A, Carter, BD, Castelao, JE, Castera, L, Caux-Moncoutier, V, Chan, SB, Chang-Claude, J, Chanock, SJ, Chen, X, Cheng, T-YD, Chiquette, J, Christiansen, H, Claes, KBM, Clarke, CL, Conner, T, Conroy, DM, Cook, J, Cordina-Duverger, E, Cornelissen, S, Coupier, I, Cox, A, Cox, DG, Cross, SS, Cuk, K, Cunningham, JM, Czene, K, Daly, MB, Damiola, F, Darabi, H, Davidson, R, De Leeneer, K, Devilee, P, Dicks, E, Diez, O, Ding, YC, Ditsch, N, Doheny, KF, Domchek, SM, Dorfling, CM, Dörk, T, Dos-Santos-Silva, I, Dubois, S, Dugué, P-A, Dumont, M, Dunning, AM, Durcan, L, Dwek, M, Dworniczak, B, Eccles, D, Eeles, R, Ehrencrona, H, Eilber, U, Ejlertsen, B, Ekici, AB, Eliassen, AH, Embrace, Engel, C, Eriksson, M, Fachal, L, Faivre, L, Fasching, PA, Faust, U, Figueroa, J, Flesch-Janys, D, Fletcher, O, Flyger, H, Foulkes, WD, Friedman, E, Fritschi, L, Frost, D, Gabrielson, M, Gaddam, P, Gammon, MD, Ganz, PA, Gapstur, SM, Garber, J, Garcia-Barberan, V, García-Sáenz, JA, Gaudet, MM, Gauthier-Villars, M, Gehrig, A, Gemo Study Collaborators, Georgoulias, V, Gerdes, A-M, Giles, GG, Glendon, G, Godwin, AK, Goldberg, MS, Goldgar, DE, González-Neira, A, Goodfellow, P, Greene, MH, Alnæs, GIG, Grip, M, Gronwald, J, Grundy, A, Gschwantler-Kaulich, D, Guénel, P, Guo, Q, Haeberle, L, Hahnen, E, Haiman, CA, Håkansson, N, Hallberg, E, Hamann, U, Hamel, N, Hankinson, S, Hansen, TVO, Harrington, P, Hart, SN, Hartikainen, JM, Healey, CS, Hebon, Hein, A, Helbig, S, Henderson, A, Heyworth, J, Hicks, B, Hillemanns, P, Hodgson, S, Hogervorst, FB, Hollestelle, A, Hooning, MJ, Hoover, B, Hopper, JL, Hu, C, Huang, G, Hulick, PJ, Humphreys, K, Hunter, DJ, Imyanitov, EN, Isaacs, C, Iwasaki, M, Izatt, L, Jakubowska, A, James, P, Janavicius, R, Janni, W, Jensen, UB, John, EM, Johnson, N, Jones, K, Jones, M, Jukkola-Vuorinen, A, Kaaks, R, Kabisch, M, Kaczmarek, K, Kang, D, Kast, K, Kconfab/Aocs Investigators, Keeman, R, Kerin, MJ, Kets, CM, Keupers, M, Khan, S, Khusnutdinova, E, Kiiski, JI, Kim, S-W, Knight, JA, Konstantopoulou, I, Kosma, V-M, Kristensen, VN, Kruse, TA, Kwong, A, Lænkholm, A-V, Laitman, Y, Lalloo, F, Lambrechts, D, Landsman, K, Lasset, C, Lazaro, C, Le Marchand, L, Lecarpentier, J, Lee, A, Lee, E, Lee, JW, Lee, MH, Lejbkowicz, F, Lesueur, F, Li, J, Lilyquist, J, Lincoln, A, Lindblom, A, Lissowska, J, Lo, W-Y, Loibl, S, Long, J, Loud, JT, Lubinski, J, Luccarini, C, Lush, M, Macinnis, RJ, Maishman, T, Makalic, E, Kostovska, IM, Malone, KE, Manoukian, S, Manson, JE, Margolin, S, Martens, JWM, Martinez, ME, Matsuo, K, Mavroudis, D, Mazoyer, S, McLean, C, Meijers-Heijboer, H, Menéndez, P, Meyer, J, Miao, H, Miller, A, Miller, N, Mitchell, G, Montagna, M, Muir, K, Mulligan, AM, Mulot, C, Nadesan, S, Nathanson, KL, Nbsc Collaborators, Neuhausen, SL, Nevanlinna, H, Nevelsteen, I, Niederacher, D, Nielsen, SF, Nordestgaard, BG, Norman, A, Nussbaum, RL, Olah, E, Olopade, OI, Olson, JE, Olswold, C, Ong, K-R, Oosterwijk, JC, Orr, N, Osorio, A, Pankratz, VS, Papi, L, Park-Simon, T-W, Paulsson-Karlsson, Y, Lloyd, R, Pedersen, IS, Peissel, B, Peixoto, A, Perez, JIA, Peterlongo, P, Peto, J, Pfeiler, G, Phelan, CM, Pinchev, M, Plaseska-Karanfilska, D, Poppe, B, Porteous, ME, Prentice, R, Presneau, N, Prokofieva, D, Pugh, E, Pujana, MA, Pylkäs, K, Rack, B, Radice, P, Rahman, N, Rantala, J, Rappaport-Fuerhauser, C, Rennert, G, Rennert, HS, Rhenius, V, Rhiem, K, Richardson, A, Rodriguez, GC, Romero, A, Romm, J, Rookus, MA, Rudolph, A, Ruediger, T, Saloustros, E, Sanders, J, Sandler, DP, Sangrajrang, S, Sawyer, EJ, Schmidt, DF, Schoemaker, MJ, Schumacher, F, Schürmann, P, Schwentner, L, Scott, C, Scott, RJ, Seal, S, Senter, L, Seynaeve, C, Shah, M, Sharma, P, Shen, C-Y, Sheng, X, Shimelis, H, Shrubsole, MJ, Shu, X-O, Side, LE, Singer, CF, Sohn, C, Southey, MC, Spinelli, JJ, Spurdle, AB, Stegmaier, C, Stoppa-Lyonnet, D, Sukiennicki, G, Surowy, H, Sutter, C, Swerdlow, A, Szabo, CI, Tamimi, RM, Tan, YY, Taylor, JA, Tejada, M-I, Tengström, M, Teo, SH, Terry, MB, Tessier, DC, Teulé, A, Thöne, K, Thull, DL, Tibiletti, MG, Tihomirova, L, Tischkowitz, M, Toland, AE, Tollenaar, RAEM, Tomlinson, I, Tong, L, Torres, D, Tranchant, M, Truong, T, Tucker, K, Tung, N, Tyrer, J, Ulmer, H-U, Vachon, C, Van Asperen, CJ, Van Den Berg, D, Van Den Ouweland, AMW, van Rensburg, EJ, Varesco, L, Varon-Mateeva, R, Vega, A, Viel, A, Vijai, J, Vincent, D, Vollenweider, J, Walker, L, Wang, Z, Wang-Gohrke, S, Wappenschmidt, B, Weinberg, CR, Weitzel, JN, Wendt, C, Wesseling, J, Whittemore, AS, Wijnen, JT, Willett, W, Winqvist, R, Wolk, A, Wu, AH, Xia, L, Yang, XR, Yannoukakos, D, Zaffaroni, D, Zheng, W, Zhu, B, Ziogas, A, Ziv, E, Zorn, KK, Gago-Dominguez, M, Mannermaa, A, Olsson, H, Teixeira, MR, Stone, J, Offit, K, Ottini, L, Park, SK, Thomassen, M, Hall, P, Meindl, A, Schmutzler, RK, Droit, A, Bader, GD, Pharoah, PDP, Couch, FJ, Easton, DF, Kraft, P, Chenevix-Trench, G, García-Closas, M, Schmidt, MK, Antoniou, AC, Simard, J