Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia nork Gerrard, G, Valgañón, M, Foong, HE, Kasperaviciute, D, Iskander, D, Game, L, Müller, M, Aitman, TJ, Roberts, I, de la Fuente, J, Foroni, L, Karadimitris, A

Germline selection shapes human mitochondrial DNA diversity nork Wei, W, Tuna, S, Keogh, MJ, Smith, KR, Aitman, TJ, Beales, PL, Bennett, DL, Gale, DP, Bitner-Glindzicz, MAK, Black, GC, Brennan, P, Elliott, P, Flinter, FA, Floto, RA, Houlden, H, Irving, M, Koziell, A, Maher, ER, Markus, HS, Morrell, NW, Newman, WG, Roberts, I, Sayer, JA, Smith, KGC, Taylor, JC, Watkins, H, Webster, AR, Wilkie, AOM, Williamson, C, NIHR BioResource–Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot, Ashford, S, Penkett, CJ, Stirrups, KE, Rendon, A, Ouwehand, WH, Bradley, JR, Raymond, FL, Caulfield, M, Turro, E, Chinnery, PF

Epigenome-wide association of DNA methylation markers in peripheral blood from Indian Asians and Europeans with incident type 2 diabetes: a nested case-control study nork Chambers, JC, Loh, M, Lehne, B, Drong, A, Kriebel, J, Motta, V, Wahl, S, Elliott, HR, Rota, F, Scott, WR, Zhang, W, Tan, S-T, Campanella, G, Chadeau-Hyam, M, Yengo, L, Richmond, RC, Adamowicz-Brice, M, Afzal, U, Bozaoglu, K, Mok, ZY, Ng, HK, Pattou, F, Prokisch, H, Rozario, MA, Tarantini, L, Abbott, J, Ala-Korpela, M, Albetti, B, Ammerpohl, O, Bertazzi, PA, Blancher, C, Caiazzo, R, Danesh, J, Gaunt, TR, de Lusignan, S, Gieger, C, Illig, T, Jha, S, Jones, S, Jowett, J, Kangas, AJ, Kasturiratne, A, Kato, N, Kotea, N, Kowlessur, S, Pitkäniemi, J, Punjabi, P, Saleheen, D, Schafmayer, C, Soininen, P, Tai, ES, Thorand, B, Tuomilehto, J, Wickremasinghe, AR, Kyrtopoulos, SA, Aitman, TJ, Herder, C, Hampe, J, Cauchi, S, Relton, CL, Froguel, P, Soong, R, Vineis, P, Jarvelin, MR, Scott, J, Grallert, H, Bollati, V, Elliott, P, McCarthy, MI, Kooner, JS

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children nork French, CE, Delon, I, Dolling, H, Sanchis-Juan, A, Shamardina, O, Mégy, K, Abbs, S, Austin, T, Bowdin, S, Branco, RG, Firth, H, Tuna, S, Aitman, TJ, Ashford, S, Astle, WJ, Bennet, DL, Bleda, M, Carss, KJ, Chinnery, PF, Deevi, SVV, Fletcher, D, Gale, DP, Gräf, SF, Hu, F, James, R, Kasanicki, MA, Kingston, N, Koziell, AB, Allen, HL, Maher, ER, Markus, HS, Meacham, S, Morrell, NW, Penkett, CJ, Roberts, I, Smith, KGC, Stark, H, Stirrups, KE, Turro, E, Watkins, H, Williamson, C, Young, T, Bradley, JR, Ouwehand, WH, Raymond, FL, Agrawal, S, Armstrong, R, Beardsall, K, Belteki, G, Bohatschek, M, Broster, S, Campbell, R, Chaudhary, R, Costa, C, D’Amore, A, Fitzsimmons, A, Hague, J, Harley, J, Hoodbhoy, S, Kayani, R, Kelsall, W, Mehta, SG, O’Donnell, R, O’Hare, S, Ogilvy-Stuart, A, Papakostas, S, Park, SM, Parker, A, Pathan, N, Prapa, M, Sammut, A, Sandford, R, Schon, K, Singh, Y, Spike, K, Tavares, ALT, Wari-Pepple, D, Wong, HS, Woods, CG, Rowitch, DH, Raymond, FL