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Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Mulle JG, Pulver AE, McGrath JA, Wolyniec PS, Dodd AF, Cutler DJ, Sebat J, Malhotra D, Nestadt G, Conrad DF, Hurles M, Barnes CP, Ikeda M, Iwata N, Levinson DF, Gejman PV, Sanders AR, Duan J, Mitchell AA, Peter I, Sklar P, O'Dushlaine CT, Grozeva D, O'Donovan MC, Owen MJ, Hultman CM, Kähler AK, Sullivan PF; Molecular Genetics of Schizophrenia Consortium; Kirov G, Warren ST. Mulle JG, et al. Among authors: barnes cp. Biol Psychiatry. 2014 Mar 1;75(5):371-7. doi: 10.1016/j.biopsych.2013.05.040. Epub 2013 Jul 17. Biol Psychiatry. 2014. PMID: 23871472 Free PMC article.
Origins and functional impact of copy number variation in the human genome.
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J; Wellcome Trust Case Control Consortium; Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME. Conrad DF, et al. Nature. 2010 Apr 1;464(7289):704-12. doi: 10.1038/nature08516. Epub 2009 Oct 7. Nature. 2010. PMID: 19812545 Free PMC article.
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Büning C, Cohain A, Cichon S, D'Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zhao H; International IBD Genetics Consortium (IIBDGC); Silverberg MS, Annese V, Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt EE, Daly MJ, Franke A, Parke… See abstract for full author list ➔ Jostins L, et al. Nature. 2012 Nov 1;491(7422):119-24. doi: 10.1038/nature11582. Nature. 2012. PMID: 23128233 Free PMC article.
Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease.
Huertas-Vazquez A, Nelson CP, Guo X, Reinier K, Uy-Evanado A, Teodorescu C, Ayala J, Jerger K, Chugh H; WTCCC+; Braund PS, Deloukas P, Hall AS, Balmforth AJ, Jones M, Taylor KD, Pulit SL, Newton-Cheh C, Gunson K, Jui J, Rotter JI, Albert CM, Samani NJ, Chugh SS. Huertas-Vazquez A, et al. PLoS One. 2013 Apr 4;8(4):e59905. doi: 10.1371/journal.pone.0059905. Print 2013. PLoS One. 2013. PMID: 23593153 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. Nature. 2010 Apr 1;464(7289):713-20. doi: 10.1038/nature08979. Nature. 2010. PMID: 20360734 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.
82 results