Improved genetic testing for monogenic diabetes using targeted next-generation sequencing von Ellard, S., Lango Allen, H., De Franco, E., Flanagan, S. E., Hysenaj, G., Colclough, K., Houghton, J. A. L., Shepherd, M., Hattersley, A. T., Weedon, M. N., Caswell, R.

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A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia von Flanagan, SE, Vairo, F, Johnson, MB, Caswell, R, Laver, TW, Lango Allen, H, Hussain, K, Ellard, S

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Improved genetic testing for monogenic diabetes using targeted next-generation sequencing von ELLARD, S, LANGO ALLEN, H, CASWELL, R, DE FRANCO, E, FLANAGAN, S. E, HYSENAJ, G, COLCLOUGH, K, HOUGHTON, J. A. L, SHEPHERD, M, HATTERSLEY, A. T, WEEDON, M. N

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What will whole genome searches for susceptibility genes for common complex disease offer to clinical practice? von Lango, H., Weedon, M. N.

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Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes von Rafiq, S, Melzer, D, Weedon, M. N, Lango, H, Saxena, R, Scott, L. J, Palmer, C. N. A, Morris, A. D, McCarthy, M. I, Ferrucci, L, Hattersley, A. T, Zeggini, E, Frayling, T. M

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Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants von Burton, Paul R, Clayton, David G, Cardon, Lon R, Craddock, Nick, Deloukas, Panos, Duncanson, Audrey, Kwiatkowski, Dominic P, McCarthy, Mark I, Ouwehand, Willem H, Samani, Nilesh J, Todd, John A, Donnelly, Peter, Barrett, Jeffrey C, Davison, Dan, Easton, Doug, Evans, David M, Leung, Hin-Tak, Marchini, Jonathan L, Morris, Andrew P, Spencer, Chris C A, Tobin, Martin D, Attwood, Antony P, Boorman, James P, Cant, Barbara, Everson, Ursula, Hussey, Judith M, Jolley, Jennifer D, Knight, Alexandra S, Koch, Kerstin, Meech, Elizabeth, Nutland, Sarah, Prowse, Christopher V, Stevens, Helen E, Taylor, Niall C, Walters, Graham R, Walker, Neil M, Watkins, Nicholas A, Winzer, Thilo, Jones, Richard W, McArdle, Wendy L, Ring, Susan M, Strachan, David P, Pembrey, Marcus, Breen, Gerome, St Clair, David, Caesar, Sian, Gordon-Smith, Katharine, Jones, Lisa, Fraser, Christine, Green, Elaine K, Grozeva, Detelina, Hamshere, Marian L, Holmans, Peter A, Jones, Ian R, Kirov, George, Moskivina, Valentina, Nikolov, Ivan, O'Donovan, Michael C, Owen, Michael J, Collier, David A, Elkin, Amanda, Farmer, Anne, Williamson, Richard, McGuffin, Peter, Young, Allan H, Ferrier, I Nicol, Ball, Stephen G, Balmforth, Anthony J, Barrett, Jennifer H, Bishop, Timothy D, Iles, Mark M, Maqbool, Azhar, Yuldasheva, Nadira, Hall, Alistair S, Braund, Peter S, Dixon, Richard J, Mangino, Massimo, Stevens, Suzanne, Thompson, John R, Bredin, Francesca, Tremelling, Mark, Parkes, Miles, Drummond, Hazel, Lees, Charles W, Nimmo, Elaine R, Satsangi, Jack, Fisher, Sheila A, Forbes, Alastair, Lewis, Cathryn M, Onnie, Clive M, Prescott, Natalie J, Sanderson, Jeremy, Matthew, Christopher G, Barbour, Jamie, Mohiuddin, M Khalid, Todhunter, Catherine E, Mansfield, John C, Ahmad, Tariq, Cummings, Fraser R, Jewell, Derek P

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Whole-genome sequencing of a sporadic primary immunodeficiency cohort von Thaventhiran, JED, Lango Allen, H, Burren, OS, Rae, W, Greene, D, Staples, E, Zhang, Z, Farmery, JHR, Simeoni, I, Rivers, E, Maimaris, J, Penkett, CJ, Stephens, J, Deevi, SVV, Sanchis-Juan, A, Gleadall, NS, Thomas, MJ, Sargur, RB, Gordins, P, Baxendale, HE, Brown, M, Tuijnenburg, P, Worth, A, Hanson, S, Linger, RJ, Buckland, MS, Rayner-Matthews, PJ, Gilmour, KC, Samarghitean, C, Seneviratne, SL, Sansom, DM, Lynch, AG, Megy, K, Ellinghaus, E, Ellinghaus, D, Jorgensen, SF, Karlsen, TH, Stirrups, KE, Cutler, AJ, Kumararatne, DS, Chandra, A, Edgar, JDM, Herwadkar, A, Cooper, N, Grigoriadou, S, Huissoon, AP, Goddard, S, Jolles, S, Schuetz, C, Boschann, F, Primary Immunodeficiency Consortium for the NIHR Bioresource, Lyons, PA, Hurles, ME, Savic, S, Burns, SO, Kuijpers, TW, Turro, E, Ouwehand, WH, Thrasher, AJ, Smith, KGC

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A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia: FLANAGAN et al von Flanagan, SE, Vairo, F, Johnson, MB, Caswell, R, Laver, TW, Lango Allen, H, Hussain, K, Ellard, S

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Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data von Huissoon, A, Mead, A, Levine, AP, Manzur, A, Thrasher, A, Parker, A, Lorenzo, L, Allen, L, Daugherty, L, Chitre, M, Themistocleous, A, Layton, M, McCarthy, M, Turro, E, Peacock, AJ, Toshner, M, Haimel, M, Lees, M, Gattens, M, Richards, M, Lambert, MP, Raymond, FL, Yeatman, N, Hu, F, Nurden, P, Corris, PA, Gordins, P, Tait, RC, Koziell, A, Sargur, R, Favier, R, Liesner, R, Scott, R, Trembath, R, MacLaren, R, Armstrong, R, Noorani, S, Sanchis-Juan, A, Tuna, S, Chong, S, Walker, S, Polwarth, G, Moledina, S, Bibi, S, Savic, S, Ashford, S, Schulman, S, Davies, S, Stock, S, Graf, S, Jolles, S, Hudson, G, Kelly, AM, Meacham, S, Kuijpers, TW, Renton, T, Noordegraaf, AV, Cookson, V, Astle, W, Egner, W, Turek, W, Henskens, Y, Attwood, A, Herwadkar, A, Ghofrani, A, Arumugakani, G, Treacy, CM, Millar, CM, Hadinnapola, C, Toh, C-H, Bacchelli, C, Watt, C, Lentaigne, C, McJannet, C, Church, C, Halmagyi, C, Richter, A, Bennett, D, Kiely, DG, Krishnakumar, D, Wong, EKS, Drewe, E, Staples, E, Clement, E, Matthews, E, Stauss, H, Baxendale, H, Firth, H, Gibbs, JSR, Whitworth, J, Heemskerk, JWM, Pasi, J, Creaser-Myers, A, Rankin, J, Vogt, J, Von Ziegenweldt, J, Megy, K, Frary, A, Stirrups, K, Greinacher, A

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Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data von Huissoon, A, Mead, A, Levine, AP, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Richter, A, Gardham, A, Creaser-Myers, A, Manson, A, Roughley, C, Titterton, C, Hadinnapola, C, Deshpande, C, Toh, C-H, McJannet, C, Samarghitean, C, Allsup, D, Bennett, D, Edgar, D, Fletcher, D, Kumararatne, D, Thompson, D, Maher, E, Chalmers, E, Thomas, E, Turro, E, Raymond, FL, Kennedy, F, Ambegaonkar, G, Arno, G, Alachkar, H, Boggard, HJ, Firth, H, Watson, H, Longhurst, H, Roberts, I, Payne, J, Carmichael, J, Maimaris, J, Wharton, J, Anderson, J, Southgate, L, Ranganathan, L, Allen, L, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, McCarthy, M, Mathias, M, Afzal, M, Rondina, M, Laffan, MA, Alavijeh, OS, Gresele, P, Nurden, P, Yong, P, Yu-Wai-Man, P, Bolton-Maggs, P, Ancliff, P, Linger, R, Machado, R, Kazmi, R, Antrobus, R, Sandford, R, Trembath, R, Horvath, R, MacLaren, R, James, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Johnson, S, Chong, S, Lear, S, Westbury, S, Hackett, S, Bibi, S, Meehan, S, Grigoriadou, S, Papadia, S, Schulman, S, Ali, S, Stock, S, Gräf, S, Jolles, S, Austin, S, Rankin, S, Holder, S, Sivapalaratnam, S, Richardson, S, Everington, T, Renton, T, Qasim, W, Lynch, AG

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Some dynamical properties of mappings defined on Knaster continua von Méndez-Lango, Héctor

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A genome-wide association study identifies protein quantitative trait loci (pQTLs) von Melzer, D, Perry, JRB, Hernandez, D, Corsi, A-M, Stevens, K, Rafferty, I, Lauretani, F, Murray, A, Gibbs, JR, Paolisso, G, Rafiq, S, Simon-Sanchez, J, Lango, H, Scholz, S, Weedon, MN, Arepalli, S, Rice, N, Washecka, N, Hurst, A, Britton, A, Henley, W, Van de Leemput, J, Li, R, Newman, AB, Tranah, G, Harris, T, Panicker, V, Dayan, C, Bennett, A, McCarthy, MI, Ruokonen, A, Jarvelin, M-R, Guralnik, J, Bandinelli, S, Frayling, TM, Singleton, A, Ferrucci, L

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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls von Plagnol, V, Robson, S, Vukcevic, D, Giannoulatou, E, Holmes, C, Marchini, JL, Stirrups, K, Yau, C, Attwood, A, Auton, A, Ball, SG, Barroso, I, Bennett, AJ, Blaszczyk, K, Braund, PS, Bredin, F, Brown, MJ, Burren, OS, Burton, J, Byrnes, J, Caesar, S, Coffey, AJ, Connell, JMC, Cooper, JD, Dominiczak, AF, Downes, K, Drummond, HE, Eccles, D, Edwards, C, Elliot, A, Evans, G, Flynn, E, Forty, L, Franklyn, JA, Freathy, RM, Gibbs, P, Gordon-Smith, K, Grozeva, D, Gwilliam, R, Hardy, M, Hebaishi, H, Hinks, A, Hitman, GA, Hocking, L, Howard, P, Howson, JMM, Hunt, S, Isaacs, JD, Jain, M, Jewell, DP, Johnson, T, Jones, IR, Lathrop, GM, Lee, J, Maller, J, McLay, KE, Mentzer, A, Morgan, AE, Mowat, C, Myers, S, Newman, W, O'Donovan, MC, Onyiah, I, Owen, MJ, Perry, JRB, Pinto, D, Prescott, NJ, Redon, R, Renwick, A, Robertson, N, St Clair, D, Sambrook, JG, Sanderson, JD, Schuilenburg, H, Scott, CE, Scott, R, Shaw-Hawkins, S, Simmonds, MJ, Smyth, DJ, Stephens, J, Su, Z, Turnbull, C, Warren-Perry, M, Webster, J, Wilson, AG, Woodburn, M, Munroe, PB, Palotie, A, Strachan, DP, Tyler-Smith, C, Gough, SCL, Hall, AS, Hill, AVS, Stratton, MR, Worthington, J, Duncanson, A, Kwiatkowski, DP, Ouwehand, WH, Parkes, M, Todd, JA

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Predicting the Occurrence of Variants in RAG1 and RAG2 von Lawless, D, Lango Allen, H, Thaventhiran, J, NIHR BioResource–Rare Diseases Consortium, Hodel, F, Anwar, R, Fellay, J, Walter, JE, Savic, S

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Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans von Cytlak, U, Resteu, A, Pagan, S, Green, K, Milne, P, Maisuria, S, McDonald, D, Hulme, G, Filby, A, Carpenter, B, Queen, R, Hambleton, S, Hague, R, Lango Allen, H, Thaventhiran, JED, Doody, G, Collin, M, Bigley, V

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Copy number variation of LINGO1 in familial dystonic tremor von Warner, TT, Alakbarzade, V, Iype, T, Chioza, BA, Singh, R, Harlalka, GV, Hardy, H, Sreekantan-Nair, A, Proukakis, C, Peall, K, Clark, LN, Caswell, R, Lango Allen, H, Wakeling, M, Chilton, J, Baple, EL, Louis, ED, Crosby, AH

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Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index von Speliotes, EK, Willer, CJ, Berndt, SI, Monda, KL, Thorleifsson, G, Jackson, AU, Lango Allen, H, Lindgren, CM, Luan, J, Magi, R, Randall, JC, Vedantam, S, Winkler, TW, Qi, L, Workalemahu, T, Heid, IM, Steinthorsdottir, V, Stringham, HM, Weedon, MN, Wheeler, E, Wood, AR, Ferreira, T, Weyant, RJ, Segre, AV, Estrada, K, Liang, L, Nemesh, J, Park, JH, Gustafsson, S, Kilpelainen, TO, Yang, J, Bouatia-Naji, N, Esko, T, Feitosa, MF, Kutalik, Z, Mangino, M, Raychaudhuri, S, Scherag, A, Smith, AV, Welch, R, Zhao, JH, Aben, KK, Absher, DM, Amin, N, Dixon, AL, Fisher, E, Glazer, NL, Goddard, ME, Heard-Costa, NL, Hoesel, V, Hottenga, JJ, Johansson, A, Johnson, T, Ketkar, S, Lamina, C, Li, S, Moffatt, MF, Myers, RH, Narisu, N, Perry, JR, Peters, MJ, Preuss, M, Ripatti, S, Rivadeneira, F, Sandholt, C, Scott, LJ, Timpson, NJ, Tyrer, JP, Van Wingerden, S, Watanabe, RM, White, CC, Wiklund, F, Barlassina, C, Chasman, DI, Cooper, MN, Jansson, JO, Lawrence, RW, Pellikka, N, Prokopenko, I, Shi, J, Thiering, E, Alavere, H, Alibrandi, MT, Almgren, P, Arnold, AM, Aspelund, T, Atwood, LD, Balkau, B, Balmforth, AJ, Bennett, AJ, Ben-Shlomo, Y, Bergman, RN, Bergmann, S, Biebermann, H, Blakemore, AI, Boes, T, Bonnycastle, LL, Bornstein, SR, Brown, MJ, Buchanan, TA

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A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia von Flanagan, SE, Vairo, F, Johnson, MB, Caswell, R, Laver, TW, Lango Allen, H, Hussain, K, Ellard, S

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Whole-genome sequencing of a sporadic primary immunodeficiency cohort von Thaventhiran, JED, Lango Allen, H, Burren, OS, Rae, W, Greene, D, Staples, E, Zhang, Z, Farmery, JHR, Simeoni, I, Rivers, E, Maimaris, J, Penkett, CJ, Stephens, J, Deevi, SVV, Sanchis-Juan, A, Gleadall, NS, Thomas, MJ, Sargur, RB, Gordins, P, Baxendale, HE, Brown, M, Tuijnenburg, P, Worth, A, Hanson, S, Linger, RJ, Buckland, MS, Rayner-Matthews, PJ, Gilmour, KC, Samarghitean, C, Seneviratne, SL, Sansom, DM, Lynch, AG, Megy, K, Ellinghaus, E, Ellinghaus, D, Jorgensen, SF, Karlsen, TH, Stirrups, KE, Cutler, AJ, Kumararatne, DS, Chandra, A, Edgar, JDM, Herwadkar, A, Cooper, N, Grigoriadou, S, Huissoon, AP, Goddard, S, Jolles, S, Schuetz, C, Boschann, F, Lyons, PA, Hurles, ME, Savic, S, Burns, SO, Kuijpers, TW, Turro, E, Ouwehand, WH, Thrasher, AJ, Smith, KGC

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Whole-genome sequencing of a sporadic primary immunodeficiency cohort von Thaventhiran, JED, Lango Allen, H, Burren, OS, Rae, W, Greene, D, Staples, E, Zhang, Z, Farmery, JHR, Simeoni, I, Rivers, E, Maimaris, J, Penkett, CJ, Stephens, J, Deevi, SVV, Sanchis-Juan, A, Gleadall, NS, Thomas, MJ, Sargur, RB, Gordins, P, Baxendale, HE, Brown, M, Tuijnenburg, P, Worth, A, Hanson, S, Linger, RJ, Buckland, MS, Rayner-Matthews, PJ, Gilmour, KC, Samarghitean, C, Seneviratne, SL, Sansom, DM, Lynch, AG, Megy, K, Ellinghaus, E, Ellinghaus, D, Jorgensen, SF, Karlsen, TH, Stirrups, KE, Cutler, AJ, Kumararatne, DS, Chandra, A, Edgar, JDM, Herwadkar, A, Cooper, N, Grigoriadou, S, Huissoon, AP, Goddard, S, Jolles, S, Schuetz, C, Boschann, F, Primary Immunodeficiency Consortium for the NIHR Bioresource, Lyons, PA, Hurles, ME, Savic, S, Burns, SO, Kuijpers, TW, Turro, E, Ouwehand, WH, Thrasher, AJ, Smith, KGC

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