Burmeister M, McInnis MG, Zollner S: Psychiatric genetics: progress amid controversy. Nature reviews. 2008, 9 (7): 527-540. 10.1038/nrg2381.
Article
CAS
PubMed
Google Scholar
Wray NR, Visscher PM: Narrowing the boundaries of the genetic architecture of schizophrenia. Schizophrenia bulletin. 2010, 36 (1): 14-23. 10.1093/schbul/sbp137.
Article
PubMed
Google Scholar
Kim Y, Zerwas S, Trace SE, Sullivan PF: Schizophrenia genetics: where next?. Schizophrenia bulletin. 2011, 37 (3): 456-463. 10.1093/schbul/sbr031.
Article
PubMed
PubMed Central
Google Scholar
Bertram L, Lill CM, Tanzi RE: The genetics of Alzheimer disease: back to the future. Neuron. 2010, 68 (2): 270-281. 10.1016/j.neuron.2010.10.013.
Article
CAS
PubMed
Google Scholar
Ballard C, Gauthier S, Corbett A, Brayne C, Aarsland D, Jones E: Alzheimer's disease. Lancet. 2011, 377 (9770): 1019-1031. 10.1016/S0140-6736(10)61349-9.
Article
PubMed
Google Scholar
Li MD, Burmeister M: New insights into the genetics of addiction. Nature reviews. 2009, 10 (4): 225-231. 10.1038/nrg2536.
Article
CAS
PubMed
PubMed Central
Google Scholar
Bierut LJ: Genetic vulnerability and susceptibility to substance dependence. Neuron. 2011, 69 (4): 618-627. 10.1016/j.neuron.2011.02.015.
Article
CAS
PubMed
PubMed Central
Google Scholar
Manolio TA, Brooks LD, Collins FS: A HapMap harvest of insights into the genetics of common disease. The Journal of clinical investigation. 2008, 118 (5): 1590-1605. 10.1172/JCI34772.
Article
CAS
PubMed
PubMed Central
Google Scholar
Epstein DJ: Cis-regulatory mutations in human disease. Briefings in functional genomics & proteomics. 2009, 8 (4): 310-316. 10.1093/bfgp/elp021.
Article
CAS
Google Scholar
Cookson W, Liang L, Abecasis G, Moffatt M, Lathrop M: Mapping complex disease traits with global gene expression. Nature reviews. 2009, 10 (3): 184-194. 10.1038/nrg2537.
Article
CAS
PubMed
PubMed Central
Google Scholar
Pastinen T: Genome-wide allele-specific analysis: insights into regulatory variation. Nature reviews. 2010, 11 (8): 533-538.
Article
CAS
PubMed
Google Scholar
Cheung VG, Spielman RS, Ewens KG, Weber TM, Morley M, Burdick JT: Mapping determinants of human gene expression by regional and genome-wide association. Nature. 2005, 437 (7063): 1365-1369. 10.1038/nature04244.
Article
CAS
PubMed
PubMed Central
Google Scholar
Kwan T, Benovoy D, Dias C, Gurd S, Provencher C, Beaulieu P, Hudson TJ, Sladek R, Majewski J: Genome-wide analysis of transcript isoform variation in humans. Nature genetics. 2008, 40 (2): 225-231. 10.1038/ng.2007.57.
Article
CAS
PubMed
Google Scholar
Stranger BE, Nica AC, Forrest MS, Dimas A, Bird CP, Beazley C, Ingle CE, Dunning M, Flicek P, Koller D, et al: Population genomics of human gene expression. Nature genetics. 2007, 39 (10): 1217-1224. 10.1038/ng2142.
Article
CAS
PubMed
PubMed Central
Google Scholar
Cheung VG, Spielman RS: Genetics of human gene expression: mapping DNA variants that influence gene expression. Nature reviews. 2009, 10 (9): 595-604. 10.1038/nrg2630.
Article
CAS
PubMed
PubMed Central
Google Scholar
Myers AJ, Gibbs JR, Webster JA, Rohrer K, Zhao A, Marlowe L, Kaleem M, Leung D, Bryden L, Nath P, et al: A survey of genetic human cortical gene expression. Nature genetics. 2007, 39 (12): 1494-1499. 10.1038/ng.2007.16.
Article
CAS
PubMed
Google Scholar
Webster JA, Gibbs JR, Clarke J, Ray M, Zhang W, Holmans P, Rohrer K, Zhao A, Marlowe L, Kaleem M, et al: Genetic control of human brain transcript expression in Alzheimer disease. American journal of human genetics. 2009, 84 (4): 445-458. 10.1016/j.ajhg.2009.03.011.
Article
CAS
PubMed
PubMed Central
Google Scholar
Liu C, Cheng L, Badner JA, Zhang D, Craig DW, Redman M, Gershon ES: Whole-genome association mapping of gene expression in the human prefrontal cortex. Molecular psychiatry. 2010, 15 (8): 779-784. 10.1038/mp.2009.128.
Article
CAS
PubMed
PubMed Central
Google Scholar
Singer-Sam J, Chapman V, LeBon JM, Riggs AD: Parental imprinting studied by allele-specific primer extension after PCR: paternal X chromosome-linked genes are transcribed prior to preferential paternal X chromosome inactivation. Proceedings of the National Academy of Sciences of the United States of America. 1992, 89 (21): 10469-10473. 10.1073/pnas.89.21.10469.
Article
CAS
PubMed
PubMed Central
Google Scholar
Yan H, Yuan W, Velculescu VE, Vogelstein B, Kinzler KW: Allelic variation in human gene expression. Science. 2002, 297 (5584): 1143-10.1126/science.1072545.
Article
CAS
PubMed
Google Scholar
Bray NJ, O'Donovan MC: Investigating cis-acting regulatory variation using assays of relative allelic expression. Psychiatric genetics. 2006, 16 (4): 173-177. 10.1097/01.ypg.0000218612.35139.84.
Article
PubMed
Google Scholar
Bray NJ, Buckland PR, Owen MJ, O'Donovan MC: Cis-acting variation in the expression of a high proportion of genes in human brain. Human genetics. 2003, 113 (2): 149-153.
PubMed
Google Scholar
Bray NJ, Buckland PR, Williams NM, Williams HJ, Norton N, Owen MJ, O'Donovan MC: A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. American journal of human genetics. 2003, 73 (1): 152-161. 10.1086/376578.
Article
CAS
PubMed
PubMed Central
Google Scholar
Bray NJ, Jehu L, Moskvina V, Buxbaum JD, Dracheva S, Haroutunian V, Williams J, Buckland PR, Owen MJ, O'Donovan MC: Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes. Human molecular genetics. 2004, 13 (22): 2885-2892. 10.1093/hmg/ddh299.
Article
CAS
PubMed
Google Scholar
Bray NJ, Preece A, Williams NM, Moskvina V, Buckland PR, Owen MJ, O'Donovan MC: Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression. Human molecular genetics. 2005, 14 (14): 1947-1954. 10.1093/hmg/ddi199.
Article
CAS
PubMed
Google Scholar
Caffrey TM, Joachim C, Paracchini S, Esiri MM, Wade-Martins R: Haplotype-specific expression of exon 10 at the human MAPT locus. Human molecular genetics. 2006, 15 (24): 3529-3537. 10.1093/hmg/ddl429.
Article
CAS
PubMed
Google Scholar
Pinsonneault JK, Papp AC, Sadee W: Allelic mRNA expression of X-linked monoamine oxidase a (MAOA) in human brain: dissection of epigenetic and genetic factors. Human molecular genetics. 2006, 15 (17): 2636-2649. 10.1093/hmg/ddl192.
Article
CAS
PubMed
Google Scholar
Zhang Y, Wang D, Johnson AD, Papp AC, Sadee W: Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. The Journal of biological chemistry. 2005, 280 (38): 32618-32624. 10.1074/jbc.M504942200.
Article
CAS
PubMed
Google Scholar
Zhang Y, Bertolino A, Fazio L, Blasi G, Rampino A, Romano R, Lee ML, Xiao T, Papp A, Wang D, et al: Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory. Proceedings of the National Academy of Sciences of the United States of America. 2007, 104 (51): 20552-20557. 10.1073/pnas.0707106104.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lim JE, Papp A, Pinsonneault J, Sadee W, Saffen D: Allelic expression of serotonin transporter (SERT) mRNA in human pons: lack of correlation with the polymorphism SERTLPR. Molecular psychiatry. 2006, 11 (7): 649-662. 10.1038/sj.mp.4001797.
Article
CAS
PubMed
Google Scholar
Lim JE, Pinsonneault J, Sadee W, Saffen D: Tryptophan hydroxylase 2 (TPH2) haplotypes predict levels of TPH2 mRNA expression in human pons. Molecular psychiatry. 2007, 12 (5): 491-501.
CAS
PubMed
Google Scholar
Yuferov V, Ji F, Nielsen DA, Levran O, Ho A, Morgello S, Shi R, Ott J, Kreek MJ: A functional haplotype implicated in vulnerability to develop cocaine dependence is associated with reduced PDYN expression in human brain. Neuropsychopharmacology. 2009, 34 (5): 1185-1197. 10.1038/npp.2008.187.
Article
CAS
PubMed
Google Scholar
Smith RM, Alachkar H, Papp AC, Wang D, Mash DC, Wang JC, Bierut LJ, Sadee W: Nicotinic alpha5 receptor subunit mRNA expression is associated with distant 5' upstream polymorphisms. Eur J Hum Genet. 2011, 19 (1): 76-83. 10.1038/ejhg.2010.120.
Article
CAS
PubMed
Google Scholar
Pinsonneault JK, Han DD, Burdick KE, Kataki M, Bertolino A, Malhotra AK, Gu HH, Sadee W: Dopamine Transporter Gene Variant Affecting Expression in Human Brain is Associated with Bipolar Disorder. Neuropsychopharmacology. 2011, 36 (8): 1644-1655. 10.1038/npp.2011.45.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ciobanu DC, Lu L, Mozhui K, Wang X, Jagalur M, Morris JA, Taylor WL, Dietz K, Simon P, Williams RW: Detection, validation, and downstream analysis of allelic variation in gene expression. Genetics. 2010, 184 (1): 119-128. 10.1534/genetics.109.107474.
Article
CAS
PubMed
PubMed Central
Google Scholar
Serre D, Gurd S, Ge B, Sladek R, Sinnett D, Harmsen E, Bibikova M, Chudin E, Barker DL, Dickinson T, et al: Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression. PLoS genetics. 2008, 4 (2): e1000006-10.1371/journal.pgen.1000006.
Article
PubMed
PubMed Central
Google Scholar
Ge B, Pokholok DK, Kwan T, Grundberg E, Morcos L, Verlaan DJ, Le J, Koka V, Lam KC, Gagne V, et al: Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nature genetics. 2009, 41 (11): 1216-1222. 10.1038/ng.473.
Article
CAS
PubMed
Google Scholar
Daelemans C, Ritchie ME, Smits G, Abu-Amero S, Sudbery IM, Forrest MS, Campino S, Clark TG, Stanier P, Kwiatkowski D, et al: High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta. BMC genetics. 2010, 11: 25-
Article
PubMed
PubMed Central
Google Scholar
Morcos L, Ge B, Koka V, Lam KC, Pokholok DK, Gunderson KL, Montpetit A, Verlaan DJ, Pastinen T: Genome-wide assessment of imprinted expression in human cells. Genome biology. 2011, 12 (3): R25-10.1186/gb-2011-12-3-r25.
Article
CAS
PubMed
PubMed Central
Google Scholar
Main BJ, Bickel RD, McIntyre LM, Graze RM, Calabrese PP, Nuzhdin SV: Allele-specific expression assays using Solexa. BMC genomics. 2009, 10: 422-10.1186/1471-2164-10-422.
Article
PubMed
PubMed Central
Google Scholar
Zhang K, Li JB, Gao Y, Egli D, Xie B, Deng J, Li Z, Lee JH, Aach J, Leproust EM, et al: Digital RNA allelotyping reveals tissue-specific and allele-specific gene expression in human. Nature methods. 2009, 6 (8): 613-618. 10.1038/nmeth.1357.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lee JH, Park IH, Gao Y, Li JB, Li Z, Daley GQ, Zhang K, Church GM: A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells. PLoS genetics. 2009, 5 (11): e1000718-10.1371/journal.pgen.1000718.
Article
PubMed
PubMed Central
Google Scholar
Mortazavi A, Williams BA, McCue K, Schaeffer L, Wold B: Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nature methods. 2008, 5 (7): 621-628. 10.1038/nmeth.1226.
Article
CAS
PubMed
Google Scholar
Wang Z, Gerstein M, Snyder M: RNA-Seq: a revolutionary tool for transcriptomics. Nature reviews. 2009, 10 (1): 57-63. 10.1038/nrg2484.
Article
CAS
PubMed
PubMed Central
Google Scholar
Verlaan DJ, Ge B, Grundberg E, Hoberman R, Lam KC, Koka V, Dias J, Gurd S, Martin NW, Mallmin H, et al: Targeted screening of cis-regulatory variation in human haplotypes. Genome research. 2009, 19 (1): 118-127.
Article
CAS
PubMed
PubMed Central
Google Scholar
Pickrell JK, Marioni JC, Pai AA, Degner JF, Engelhardt BE, Nkadori E, Veyrieras JB, Stephens M, Gilad Y, Pritchard JK: Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature. 2010, 464 (7289): 768-772. 10.1038/nature08872.
Article
CAS
PubMed
PubMed Central
Google Scholar
Babak T, Garrett-Engele P, Armour CD, Raymond CK, Keller MP, Chen R, Rohl CA, Johnson JM, Attie AD, Fraser HB, et al: Genetic validation of whole-transcriptome sequencing for mapping expression affected by cis-regulatory variation. BMC genomics. 2010, 11: 473-10.1186/1471-2164-11-473.
Article
PubMed
PubMed Central
Google Scholar
Fontanillas P, Landry CR, Wittkopp PJ, Russ C, Gruber JD, Nusbaum C, Hartl DL: Key considerations for measuring allelic expression on a genomic scale using high-throughput sequencing. Molecular ecology. 2011, 19 (Suppl 1): 212-227.
Google Scholar
Heap GA, Yang JH, Downes K, Healy BC, Hunt KA, Bockett N, Franke L, Dubois PC, Mein CA, Dobson RJ, et al: Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing. Human molecular genetics. 2010, 19 (1): 122-134. 10.1093/hmg/ddp473.
Article
CAS
PubMed
Google Scholar
Williams NM, Glaser B, Norton N, Williams H, Pierce T, Moskvina V, Monks S, Del Favero J, Goossens D, Rujescu D, et al: Strong evidence that GNB1L is associated with schizophrenia. Human molecular genetics. 2008, 17 (4): 555-566.
Article
CAS
PubMed
Google Scholar
Maes OC, Schipper HM, Chong G, Chertkow HM, Wang E: A GSTM3 polymorphism associated with an etiopathogenetic mechanism in Alzheimer disease. Neurobiology of aging. 2010, 31 (1): 34-45. 10.1016/j.neurobiolaging.2008.03.007.
Article
CAS
PubMed
Google Scholar
Lo HS, Wang Z, Hu Y, Yang HH, Gere S, Buetow KH, Lee MP: Allelic variation in gene expression is common in the human genome. Genome research. 2003, 13 (8): 1855-1862.
CAS
PubMed
PubMed Central
Google Scholar
Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brandstrom H, et al: A survey of genetic and epigenetic variation affecting human gene expression. Physiological genomics. 2004, 16 (2): 184-193.
Article
CAS
PubMed
Google Scholar
Johnson AD, Zhang Y, Papp AC, Pinsonneault JK, Lim JE, Saffen D, Dai Z, Wang D, Sadee W: Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. Pharmacogenetics and genomics. 2008, 18 (9): 781-791. 10.1097/FPC.0b013e3283050107.
Article
CAS
PubMed
PubMed Central
Google Scholar
Richards AL, Jones L, Moskvina V, Kirov G, Gejman PV, Levinson DF, Sanders AR, Purcell S, Visscher PM, Craddock N: Schizophrenia susceptibility alleles are enriched for alleles that affect gene expression in adult human brain. Molecular psychiatry.
Invernizzi RW: Role of TPH-2 in brain function: news from behavioral and pharmacologic studies. Journal of neuroscience research. 2007, 85 (14): 3030-3035. 10.1002/jnr.21330.
Article
CAS
PubMed
Google Scholar
Haass C, Selkoe DJ: Soluble protein oligomers in neurodegeneration: lessons from the Alzheimer's amyloid beta-peptide. Nat Rev Mol Cell Biol. 2007, 8 (2): 101-112. 10.1038/nrm2101.
Article
CAS
PubMed
Google Scholar
Singleton A, Myers A, Hardy J: The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases. Human molecular genetics. 2004, 13 (Spec No 1): R123-126.
Article
CAS
PubMed
Google Scholar
Brouwers N, Sleegers K, Engelborghs S, Bogaerts V, Serneels S, Kamali K, Corsmit E, De Leenheir E, Martin JJ, De Deyn PP, et al: Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease. Brain. 2006, 129 (Pt 11): 2984-2991.
Article
PubMed
Google Scholar
Horan M, Millar DS, Hedderich J, Lewis G, Newsway V, Mo N, Fryklund L, Procter AM, Krawczak M, Cooper DN: Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region. Human mutation. 2003, 21 (4): 408-423. 10.1002/humu.10167.
Article
CAS
PubMed
Google Scholar
Tao H, Cox DR, Frazer KA: Allele-specific KRT1 expression is a complex trait. PLoS genetics. 2006, 2 (6): e93-10.1371/journal.pgen.0020093.
Article
PubMed
PubMed Central
Google Scholar
Babbitt CC, Silverman JS, Haygood R, Reininga JM, Rockman MV, Wray GA: Multiple Functional Variants in cis Modulate PDYN Expression. Molecular biology and evolution. 2010, 27 (2): 465-479. 10.1093/molbev/msp276.
Article
CAS
PubMed
Google Scholar
Buonocore F, Hill MJ, Campbell CD, Oladimeji PB, Jeffries AR, Troakes C, Hortobagyi T, Williams BP, Cooper JD, Bray NJ: Effects of cis-regulatory variation differ across regions of the adult human brain. Human molecular genetics. 2010, 19 (22): 4490-4496. 10.1093/hmg/ddq380.
Article
CAS
PubMed
PubMed Central
Google Scholar
Kwan T, Benovoy D, Dias C, Gurd S, Serre D, Zuzan H, Clark TA, Schweitzer A, Staples MK, Wang H, et al: Heritability of alternative splicing in the human genome. Genome research. 2007, 17 (8): 1210-1218. 10.1101/gr.6281007.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lalonde E, Ha KC, Wang Z, Bemmo A, Kleinman CL, Kwan T, Pastinen T, Majewski J: RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Genome research. 2010, 21 (4): 545-554.
Article
PubMed
Google Scholar
McDaniell R, Lee BK, Song L, Liu Z, Boyle AP, Erdos MR, Scott LJ, Morken MA, Kucera KS, Battenhouse A, et al: Heritable individual-specific and allele-specific chromatin signatures in humans. Science. 2010, 328 (5975): 235-239. 10.1126/science.1184655.
Article
CAS
PubMed
PubMed Central
Google Scholar
Tycko B: Allele-specific DNA methylation: beyond imprinting. Human molecular genetics. 2010, 19 (R2): R210-220. 10.1093/hmg/ddq376.
Article
CAS
PubMed
PubMed Central
Google Scholar
Craig DW, Pearson JV, Szelinger S, Sekar A, Redman M, Corneveaux JJ, Pawlowski TL, Laub T, Nunn G, Stephan DA, et al: Identification of genetic variants using bar-coded multiplexed sequencing. Nature methods. 2008, 5 (10): 887-893. 10.1038/nmeth.1251.
Article
CAS
PubMed
PubMed Central
Google Scholar
Edgar RC: MUSCLE: multiple sequence alignment with high accuracy and high throughput. Nucleic acids research. 2004, 32 (5): 1792-1797. 10.1093/nar/gkh340.
Article
CAS
PubMed
PubMed Central
Google Scholar