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Results: 1 to 20 of 251

1.

A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.

Gamazon ER, Nicolae DL, Cox NJ.

PLoS Genet. 2011 Feb 3;7(2):e1001292. doi: 10.1371/journal.pgen.1001292.

PMID:
21304891
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Copy number polymorphisms and anticancer pharmacogenomics.

Gamazon ER, Huang RS, Dolan ME, Cox NJ.

Genome Biol. 2011;12(5):R46. doi: 10.1186/gb-2011-12-5-r46. Epub 2011 May 25.

PMID:
21609475
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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-Armer M, Maller J, Mansfield J, Martin P, Massey DC, McArdle WL, McGuffin P, McLay KE, Mentzer A, Mimmack ML, Morgan AE, Morris AP, Mowat C, Myers S, Newman W, Nimmo ER, O'Donovan MC, Onipinla A, Onyiah I, Ovington NR, Owen MJ, Palin K, Parnell K, Pernet D, Perry JR, Phillips A, Pinto D, Prescott NJ, Prokopenko I, Quail MA, Rafelt S, Rayner NW, Redon R, Reid DM, Renwick, Ring SM, Robertson N, Russell E, St Clair D, Sambrook JG, Sanderson JD, Schuilenburg H, Scott CE, Scott R, Seal S, Shaw-Hawkins S, Shields BM, Simmonds MJ, Smyth DJ, Somaskantharajah E, Spanova K, Steer S, Stephens J, Stevens HE, Stone MA, Su Z, Symmons DP, Thompson JR, Thomson W, Travers ME, Turnbull C, Valsesia A, Walker M, Walker NM, Wallace C, Warren-Perry M, Watkins NA, Webster J, Weedon MN, Wilson AG, Woodburn M, Wordsworth BP, Young AH, Zeggini E, Carter NP, Frayling TM, Lee C, McVean G, Munroe PB, Palotie A, Sawcer SJ, Scherer SW, Strachan DP, Tyler-Smith C, Brown MA, Burton PR, Caulfield MJ, Compston A, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Mathew CG, Pembrey M, Satsangi J, Stratton MR, Worthington J, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand W, Parkes M, Rahman N, Todd JA, Samani NJ, Donnelly P.

Nature. 2010 Apr 1;464(7289):713-20. doi: 10.1038/nature08979.

PMID:
20360734
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

Nature. 2010 Apr 1;464(7289):704-12. doi: 10.1038/nature08516. Epub 2009 Oct 7.

PMID:
19812545
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Analysis of copy loss and gain variations in Holstein cattle autosomes using BeadChip SNPs.

Seroussi E, Glick G, Shirak A, Yakobson E, Weller JI, Ezra E, Zeron Y.

BMC Genomics. 2010 Nov 29;11:673. doi: 10.1186/1471-2164-11-673.

PMID:
21114805
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.

Fehrmann RS, Jansen RC, Veldink JH, Westra HJ, Arends D, Bonder MJ, Fu J, Deelen P, Groen HJ, Smolonska A, Weersma RK, Hofstra RM, Buurman WA, Rensen S, Wolfs MG, Platteel M, Zhernakova A, Elbers CC, Festen EM, Trynka G, Hofker MH, Saris CG, Ophoff RA, van den Berg LH, van Heel DA, Wijmenga C, Te Meerman GJ, Franke L.

PLoS Genet. 2011 Aug;7(8):e1002197. doi: 10.1371/journal.pgen.1002197. Epub 2011 Aug 4.

PMID:
21829388
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder.

Priebe L, Degenhardt FA, Herms S, Haenisch B, Mattheisen M, Nieratschker V, Weingarten M, Witt S, Breuer R, Paul T, Alblas M, Moebus S, Lathrop M, Leboyer M, Schreiber S, Grigoroiu-Serbanescu M, Maier W, Propping P, Rietschel M, Nöthen MM, Cichon S, Mühleisen TW.

Mol Psychiatry. 2012 Apr;17(4):421-32. doi: 10.1038/mp.2011.8. Epub 2011 Mar 1.

PMID:
21358712
[PubMed - indexed for MEDLINE]
8.

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS.

Nicolae DL, Gamazon E, Zhang W, Duan S, Dolan ME, Cox NJ.

PLoS Genet. 2010 Apr 1;6(4):e1000888. doi: 10.1371/journal.pgen.1000888.

PMID:
20369019
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants.

Gamazon ER, Badner JA, Cheng L, Zhang C, Zhang D, Cox NJ, Gershon ES, Kelsoe JR, Greenwood TA, Nievergelt CM, Chen C, McKinney R, Shilling PD, Schork NJ, Smith EN, Bloss CS, Nurnberger JI, Edenberg HJ, Foroud T, Koller DL, Scheftner WA, Coryell W, Rice J, Lawson WB, Nwulia EA, Hipolito M, Byerley W, McMahon FJ, Schulze TG, Berrettini WH, Potash JB, Zandi PP, Mahon PB, McInnis MG, Zöllner S, Zhang P, Craig DW, Szelinger S, Barrett TB, Liu C.

Mol Psychiatry. 2013 Mar;18(3):340-6. doi: 10.1038/mp.2011.174. Epub 2012 Jan 3.

PMID:
22212596
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity.

Waszak SM, Hasin Y, Zichner T, Olender T, Keydar I, Khen M, Stütz AM, Schlattl A, Lancet D, Korbel JO.

PLoS Comput Biol. 2010 Nov 11;6(11):e1000988. doi: 10.1371/journal.pcbi.1000988.

PMID:
21085617
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

SCAN: SNP and copy number annotation.

Gamazon ER, Zhang W, Konkashbaev A, Duan S, Kistner EO, Nicolae DL, Dolan ME, Cox NJ.

Bioinformatics. 2010 Jan 15;26(2):259-62. doi: 10.1093/bioinformatics/btp644. Epub 2009 Nov 17.

PMID:
19933162
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions.

Schlattl A, Anders S, Waszak SM, Huber W, Korbel JO.

Genome Res. 2011 Dec;21(12):2004-13. doi: 10.1101/gr.122614.111. Epub 2011 Aug 23.

PMID:
21862627
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Analysis of copy number variations in the sheep genome using 50K SNP BeadChip array.

Liu J, Zhang L, Xu L, Ren H, Lu J, Zhang X, Zhang S, Zhou X, Wei C, Zhao F, Du L.

BMC Genomics. 2013 Apr 8;14:229. doi: 10.1186/1471-2164-14-229.

PMID:
23565757
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Schizophrenia susceptibility alleles are enriched for alleles that affect gene expression in adult human brain.

Richards AL, Jones L, Moskvina V, Kirov G, Gejman PV, Levinson DF, Sanders AR; Molecular Genetics of Schizophrenia Collaboration (MGS); International Schizophrenia Consortium (ISC), Purcell S, Visscher PM, Craddock N, Owen MJ, Holmans P, O'Donovan MC.

Mol Psychiatry. 2012 Feb;17(2):193-201. doi: 10.1038/mp.2011.11. Epub 2011 Feb 22.

PMID:
21339752
[PubMed - indexed for MEDLINE]
15.

Genome-wide association study of multiplex schizophrenia pedigrees.

Levinson DF, Shi J, Wang K, Oh S, Riley B, Pulver AE, Wildenauer DB, Laurent C, Mowry BJ, Gejman PV, Owen MJ, Kendler KS, Nestadt G, Schwab SG, Mallet J, Nertney D, Sanders AR, Williams NM, Wormley B, Lasseter VK, Albus M, Godard-Bauché S, Alexander M, Duan J, O'Donovan MC, Walsh D, O'Neill A, Papadimitriou GN, Dikeos D, Maier W, Lerer B, Campion D, Cohen D, Jay M, Fanous A, Eichhammer P, Silverman JM, Norton N, Zhang N, Hakonarson H, Gao C, Citri A, Hansen M, Ripke S; Schizophrenia Psychiatric GWAS Consortium, Dudbridge F, Holmans PA.

Am J Psychiatry. 2012 Sep;169(9):963-73.

PMID:
22885689
[PubMed - indexed for MEDLINE]
16.

A comprehensive survey of copy number variation in 18 diverse pig populations and identification of candidate copy number variable genes associated with complex traits.

Chen C, Qiao R, Wei R, Guo Y, Ai H, Ma J, Ren J, Huang L.

BMC Genomics. 2012 Dec 27;13:733. doi: 10.1186/1471-2164-13-733.

PMID:
23270433
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Association between SNPs and gene expression in multiple regions of the human brain.

Kim S, Cho H, Lee D, Webster MJ.

Transl Psychiatry. 2012 May 8;2:e113. doi: 10.1038/tp.2012.42.

PMID:
22832957
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Mapping the genetic architecture of gene expression in human liver.

Schadt EE, Molony C, Chudin E, Hao K, Yang X, Lum PY, Kasarskis A, Zhang B, Wang S, Suver C, Zhu J, Millstein J, Sieberts S, Lamb J, GuhaThakurta D, Derry J, Storey JD, Avila-Campillo I, Kruger MJ, Johnson JM, Rohl CA, van Nas A, Mehrabian M, Drake TA, Lusis AJ, Smith RC, Guengerich FP, Strom SC, Schuetz E, Rushmore TH, Ulrich R.

PLoS Biol. 2008 May 6;6(5):e107. doi: 10.1371/journal.pbio.0060107.

PMID:
18462017
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Whole genome survey of copy number variation in the spontaneously hypertensive rat: relationship to quantitative trait loci, gene expression, and blood pressure.

Charchar FJ, Kaiser M, Bingham AJ, Fotinatos N, Ahmady F, Tomaszewski M, Samani NJ.

Hypertension. 2010 May;55(5):1231-8. doi: 10.1161/HYPERTENSIONAHA.109.141663. Epub 2010 Mar 15. Erratum in: Hypertension. 2010 Jun;55(6):e28.

PMID:
20231529
[PubMed - indexed for MEDLINE]
Free Article
20.

A genome-wide integrative study of microRNAs in human liver.

Gamazon ER, Innocenti F, Wei R, Wang L, Zhang M, Mirkov S, Ramírez J, Huang RS, Cox NJ, Ratain MJ, Liu W.

BMC Genomics. 2013 Jun 13;14:395. doi: 10.1186/1471-2164-14-395.

PMID:
23758991
[PubMed - indexed for MEDLINE]
Free PMC Article

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