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Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Among authors: stephens j. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Production of calmodulin-tagged proteins in Drosophila Schneider S2 cells: a novel system for antigen production and phage antibody isolation.
Jennings NS, Smethurst PA, Knight CG, O'Connor MN, Joutsi-Korhonen L, Stafford P, Stephens J, Garner SF, Harmer IJ, Farndale RW, Watkins NA, Ouwehand WH. Jennings NS, et al. Among authors: stephens j. J Immunol Methods. 2006 Oct 20;316(1-2):75-83. doi: 10.1016/j.jim.2006.08.003. Epub 2006 Sep 7. J Immunol Methods. 2006. PMID: 17027020
A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function.
Soranzo N, Rendon A, Gieger C, Jones CI, Watkins NA, Menzel S, Döring A, Stephens J, Prokisch H, Erber W, Potter SC, Bray SL, Burns P, Jolley J, Falchi M, Kühnel B, Erdmann J, Schunkert H, Samani NJ, Illig T, Garner SF, Rankin A, Meisinger C, Bradley JR, Thein SL, Goodall AH, Spector TD, Deloukas P, Ouwehand WH. Soranzo N, et al. Among authors: stephens j. Blood. 2009 Apr 16;113(16):3831-7. doi: 10.1182/blood-2008-10-184234. Epub 2009 Feb 12. Blood. 2009. PMID: 19221038 Free PMC article.
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
Soranzo N, Spector TD, Mangino M, Kühnel B, Rendon A, Teumer A, Willenborg C, Wright B, Chen L, Li M, Salo P, Voight BF, Burns P, Laskowski RA, Xue Y, Menzel S, Altshuler D, Bradley JR, Bumpstead S, Burnett MS, Devaney J, Döring A, Elosua R, Epstein SE, Erber W, Falchi M, Garner SF, Ghori MJ, Goodall AH, Gwilliam R, Hakonarson HH, Hall AS, Hammond N, Hengstenberg C, Illig T, König IR, Knouff CW, McPherson R, Melander O, Mooser V, Nauck M, Nieminen MS, O'Donnell CJ, Peltonen L, Potter SC, Prokisch H, Rader DJ, Rice CM, Roberts R, Salomaa V, Sambrook J, Schreiber S, Schunkert H, Schwartz SM, Serbanovic-Canic J, Sinisalo J, Siscovick DS, Stark K, Surakka I, Stephens J, Thompson JR, Völker U, Völzke H, Watkins NA, Wells GA, Wichmann HE, Van Heel DA, Tyler-Smith C, Thein SL, Kathiresan S, Perola M, Reilly MP, Stewart AF, Erdmann J, Samani NJ, Meisinger C, Greinacher A, Deloukas P, Ouwehand WH, Gieger C. Soranzo N, et al. Among authors: stephens j. Nat Genet. 2009 Nov;41(11):1182-90. doi: 10.1038/ng.467. Epub 2009 Oct 11. Nat Genet. 2009. PMID: 19820697 Free PMC article.
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
Wellcome Trust Case Control Consortium; Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K, Bowes J, Brand OJ, Braund PS, Bredin F, Breen G, Brown MJ, Bruce IN, Bull J, Burren OS, Burton J, Byrnes J, Caesar S, Clee CM, Coffey AJ, Connell JM, Cooper JD, Dominiczak AF, Downes K, Drummond HE, Dudakia D, Dunham A, Ebbs B, Eccles D, Edkins S, Edwards C, Elliot A, Emery P, Evans DM, Evans G, Eyre S, Farmer A, Ferrier IN, Feuk L, Fitzgerald T, Flynn E, Forbes A, Forty L, Franklyn JA, Freathy RM, Gibbs P, Gilbert P, Gokumen O, Gordon-Smith K, Gray E, Green E, Groves CJ, Grozeva D, Gwilliam R, Hall A, Hammond N, Hardy M, Harrison P, Hassanali N, Hebaishi H, Hines S, Hinks A, Hitman GA, Hocking L, Howard E, Howard P, Howson JM, Hughes D, Hunt S, Isaacs JD, Jain M, Jewell DP, Johnson T, Jolley JD, Jones IR, Jones LA, Kirov G, Langford CF, Lango-Allen H, Lathrop GM, Lee J, Lee KL, Lees C, Lewis K, Lindgren CM, Maisuria-Ar… See abstract for full author list ➔ Wellcome Trust Case Control Consortium, et al. Among authors: stephens j. Nature. 2010 Apr 1;464(7289):713-20. doi: 10.1038/nature08979. Nature. 2010. PMID: 20360734 Free PMC article.
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
Mells GF, Floyd JA, Morley KI, Cordell HJ, Franklin CS, Shin SY, Heneghan MA, Neuberger JM, Donaldson PT, Day DB, Ducker SJ, Muriithi AW, Wheater EF, Hammond CJ, Dawwas MF; UK PBC Consortium; Wellcome Trust Case Control Consortium 3; Jones DE, Peltonen L, Alexander GJ, Sandford RN, Anderson CA. Mells GF, et al. Nat Genet. 2011 Mar 13;43(4):329-32. doi: 10.1038/ng.789. Nat Genet. 2011. PMID: 21399635 Free PMC article.
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH. Albers CA, et al. Among authors: stephens j. Nat Genet. 2011 Jul 17;43(8):735-7. doi: 10.1038/ng.885. Nat Genet. 2011. PMID: 21765411 Free PMC article.
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
Liu JZ, Almarri MA, Gaffney DJ, Mells GF, Jostins L, Cordell HJ, Ducker SJ, Day DB, Heneghan MA, Neuberger JM, Donaldson PT, Bathgate AJ, Burroughs A, Davies MH, Jones DE, Alexander GJ, Barrett JC, Sandford RN, Anderson CA; UK Primary Biliary Cirrhosis (PBC) Consortium; Wellcome Trust Case Control Consortium 3. Liu JZ, et al. Nat Genet. 2012 Oct;44(10):1137-41. doi: 10.1038/ng.2395. Epub 2012 Sep 9. Nat Genet. 2012. PMID: 22961000 Free PMC article.
Bayesian refinement of association signals for 14 loci in 3 common diseases.
Wellcome Trust Case Control Consortium; Maller JB, McVean G, Byrnes J, Vukcevic D, Palin K, Su Z, Howson JM, Auton A, Myers S, Morris A, Pirinen M, Brown MA, Burton PR, Caulfield MJ, Compston A, Farrall M, Hall AS, Hattersley AT, Hill AV, Mathew CG, Pembrey M, Satsangi J, Stratton MR, Worthington J, Craddock N, Hurles M, Ouwehand W, Parkes M, Rahman N, Duncanson A, Todd JA, Kwiatkowski DP, Samani NJ, Gough SC, McCarthy MI, Deloukas P, Donnelly P. Wellcome Trust Case Control Consortium, et al. Nat Genet. 2012 Dec;44(12):1294-301. doi: 10.1038/ng.2435. Epub 2012 Oct 28. Nat Genet. 2012. PMID: 23104008 Free PMC article.
1,910 results