Published in PLoS Biol on December 23, 2008
Common regulatory variation impacts gene expression in a cell type-dependent manner. Science (2009) 11.28
Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet (2010) 9.53
Spatio-temporal transcriptome of the human brain. Nature (2011) 9.19
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet (2010) 8.74
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
Temporal dynamics and genetic control of transcription in the human prefrontal cortex. Nature (2011) 5.01
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies. Bioinformatics (2010) 4.56
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. Am J Hum Genet (2009) 2.56
Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1. Nat Genet (2010) 2.46
Geographical genomics of human leukocyte gene expression variation in southern Morocco. Nat Genet (2009) 2.38
Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium. Ann Neurol (2011) 2.37
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. PLoS Genet (2012) 2.34
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Population genomics in a disease targeted primary cell model. Genome Res (2009) 2.20
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12
The neuronal transporter gene SLC6A15 confers risk to major depression. Neuron (2011) 2.02
Screening the human exome: a comparison of whole genome and whole transcriptome sequencing. Genome Biol (2010) 2.00
Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals. PLoS Pathog (2010) 1.90
Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis. Nat Genet (2013) 1.90
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature (2014) 1.88
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. PLoS Genet (2012) 1.84
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing. PLoS Genet (2015) 1.78
DISC1 splice variants are upregulated in schizophrenia and associated with risk polymorphisms. Proc Natl Acad Sci U S A (2009) 1.76
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. Hum Mol Genet (2009) 1.71
Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genet (2012) 1.68
Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project. Am J Hum Genet (2012) 1.60
Tissue effect on genetic control of transcript isoform variation. PLoS Genet (2009) 1.59
RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Genome Res (2010) 1.58
Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent. Genome Res (2011) 1.58
Expression quantitative trait loci detected in cell lines are often present in primary tissues. Hum Mol Genet (2009) 1.57
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Expression quantitative trait loci: replication, tissue- and sex-specificity in mice. Genetics (2010) 1.55
Global analysis of the impact of environmental perturbation on cis-regulation of gene expression. PLoS Genet (2011) 1.51
Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q. Neuropsychopharmacology (2011) 1.50
Interplay between DISC1 and GABA signaling regulates neurogenesis in mice and risk for schizophrenia. Cell (2012) 1.48
Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. Am J Hum Genet (2014) 1.47
SRp20 is a proto-oncogene critical for cell proliferation and tumor induction and maintenance. Int J Biol Sci (2010) 1.40
Common genetic variation in Neuregulin 3 (NRG3) influences risk for schizophrenia and impacts NRG3 expression in human brain. Proc Natl Acad Sci U S A (2010) 1.36
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis (2012) 1.35
Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study. BMC Neurol (2010) 1.32
Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver. Pharmacogenomics J (2011) 1.31
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. Nat Commun (2014) 1.28
Loci influencing blood pressure identified using a cardiovascular gene-centric array. Hum Mol Genet (2013) 1.27
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. Nucleic Acids Res (2013) 1.25
Variants affecting exon skipping contribute to complex traits. PLoS Genet (2012) 1.24
Expression quantitative trait loci: present and future. Philos Trans R Soc Lond B Biol Sci (2013) 1.20
Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes. Hum Mol Genet (2012) 1.20
A novel, functional and replicable risk gene region for alcohol dependence identified by genome-wide association study. PLoS One (2011) 1.19
Genetic neuropathology of schizophrenia: new approaches to an old question and new uses for postmortem human brains. Biol Psychiatry (2011) 1.18
A common HLA-DPA1 variant is a major determinant of hepatitis B virus clearance in Han Chinese. J Infect Dis (2011) 1.17
Identification of allele-specific alternative mRNA processing via transcriptome sequencing. Nucleic Acids Res (2012) 1.16
Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood. Eur J Hum Genet (2012) 1.15
Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes. Eur J Hum Genet (2012) 1.14
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. Hum Mol Genet (2012) 1.14
Genetics of focal segmental glomerulosclerosis and human immunodeficiency virus-associated collapsing glomerulopathy: the role of MYH9 genetic variation. Semin Nephrol (2010) 1.13
Genetics of sputum gene expression in chronic obstructive pulmonary disease. PLoS One (2011) 1.11
GLiMMPS: robust statistical model for regulatory variation of alternative splicing using RNA-seq data. Genome Biol (2013) 1.11
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. Am J Clin Nutr (2013) 1.08
Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs. BMC Genomics (2014) 1.06
Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations. Am J Hum Genet (2014) 1.06
Global properties and functional complexity of human gene regulatory variation. PLoS Genet (2013) 1.02
Alternative splicing: a potential source of functional innovation in the eukaryotic genome. Int J Evol Biol (2012) 1.00
Genome-wide association of pericardial fat identifies a unique locus for ectopic fat. PLoS Genet (2012) 1.00
Functional transcriptomics in the post-ENCODE era. Genome Res (2013) 0.98
Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence. Am J Med Genet B Neuropsychiatr Genet (2012) 0.97
Network models of genome-wide association studies uncover the topological centrality of protein interactions in complex diseases. J Am Med Inform Assoc (2013) 0.95
Revisiting DARPP-32 in postmortem human brain: changes in schizophrenia and bipolar disorder and genetic associations with t-DARPP-32 expression. Mol Psychiatry (2013) 0.95
The molecular genetic architecture of attention deficit hyperactivity disorder. Mol Psychiatry (2015) 0.94
Genome-wide significant association signals in IPO11-HTR1A region specific for alcohol and nicotine codependence. Alcohol Clin Exp Res (2012) 0.94
Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulation. PLoS Genet (2012) 0.94
Genetic associations with expression for genes implicated in GWAS studies for atherosclerotic cardiovascular disease and blood phenotypes. Hum Mol Genet (2013) 0.93
Impact of natural genetic variation on gene expression dynamics. PLoS Genet (2013) 0.93
Identification of a novel Parkinson's disease locus via stratified genome-wide association study. BMC Genomics (2014) 0.93
Genetically dependent ERBB3 expression modulates antigen presenting cell function and type 1 diabetes risk. PLoS One (2010) 0.93
NKAIN1-SERINC2 is a functional, replicable and genome-wide significant risk gene region specific for alcohol dependence in subjects of European descent. Drug Alcohol Depend (2013) 0.92
Post genome-wide association studies functional characterization of prostate cancer risk loci. BMC Genomics (2013) 0.91
Context-dependent robustness to 5' splice site polymorphisms in human populations. Hum Mol Genet (2010) 0.91
Genetic variant rs763361 regulates multiple sclerosis CD226 gene expression. Proc Natl Acad Sci U S A (2017) 0.90
Brain expression quantitative trait locus mapping informs genetic studies of psychiatric diseases. Neurosci Bull (2011) 0.90
Translational studies of lipoprotein-associated phospholipase A₂ in inflammation and atherosclerosis. J Am Coll Cardiol (2012) 0.89
Postmortem brain tissue for drug discovery in psychiatric research. Schizophr Bull (2009) 0.87
Genetic variation in cholinergic muscarinic-2 receptor gene modulates M2 receptor binding in vivo and accounts for reduced binding in bipolar disorder. Mol Psychiatry (2010) 0.87
Overlap of expression quantitative trait loci (eQTL) in human brain and blood. BMC Med Genomics (2014) 0.87
A meta-analysis of gene expression quantitative trait loci in brain. Transl Psychiatry (2014) 0.87
The genetic basis for individual differences in mRNA splicing and APOBEC1 editing activity in murine macrophages. Genome Res (2013) 0.86
The Alzheimer's associated 5' region of the SORL1 gene cis regulates SORL1 transcripts expression. Neurobiol Aging (2010) 0.85
Genome-wide association studies of maximum number of drinks. J Psychiatr Res (2013) 0.85
Prostatic alpha-linolenic acid (ALA) is positively associated with aggressive prostate cancer: a relationship which may depend on genetic variation in ALA metabolism. PLoS One (2012) 0.84
Genetics of gene expression in CNS. Int Rev Neurobiol (2014) 0.84
Quantitative assessment of common genetic variations in HLA-DP with hepatitis B virus infection, clearance and hepatocellular carcinoma development. Sci Rep (2015) 0.84
Genotype-based test in mapping cis-regulatory variants from allele-specific expression data. PLoS One (2012) 0.84
Evaluation of microRNA expression profiles and their associations with risk alleles in lymphoblastoid cell lines of familial ovarian cancer. Carcinogenesis (2012) 0.83
An integrative functional genomics approach for discovering biomarkers in schizophrenia. Brief Funct Genomics (2011) 0.83
Transcriptome of the human retina, retinal pigmented epithelium and choroid. Genomics (2015) 0.82
Trans-ethnic meta-analysis of white blood cell phenotypes. Hum Mol Genet (2014) 0.82
Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia. PeerJ (2013) 0.82
Heritability in the efficiency of nonsense-mediated mRNA decay in humans. PLoS One (2010) 0.82
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature (2007) 144.95
Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet (2006) 115.71
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet (2008) 25.83
A genome-wide association study of global gene expression. Nat Genet (2007) 22.98
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet (2008) 20.73
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Mapping the genetic architecture of gene expression in human liver. PLoS Biol (2008) 19.44
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet (2007) 19.04
Genome-wide associations of gene expression variation in humans. PLoS Genet (2005) 17.27
Mapping determinants of human gene expression by regional and genome-wide association. Nature (2005) 17.24
Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med (2007) 17.06
Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet (2002) 16.29
A whole-genome association study of major determinants for host control of HIV-1. Science (2007) 15.19
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature (2007) 14.43
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet (2008) 12.51
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet (2004) 12.25
A survey of genetic human cortical gene expression. Nat Genet (2007) 12.04
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med (2008) 9.61
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS Genet (2007) 8.63
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet (2007) 8.50
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science (2007) 7.55
Genome-wide analysis of transcript isoform variation in humans. Nat Genet (2008) 6.70
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Am J Hum Genet (2005) 6.61
Genome-wide midrange transcription profiles reveal expression level relationships in human tissue specification. Bioinformatics (2004) 4.88
Evaluation of genetic variation contributing to differences in gene expression between populations. Am J Hum Genet (2008) 4.01
Messenger RNA regulation: to translate or to degrade. EMBO J (2008) 3.38
Identification of common genetic variation that modulates alternative splicing. PLoS Genet (2007) 1.96
Human genetics: the hidden text of genome-wide associations. Curr Biol (2007) 1.39
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet (2008) 30.94
Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. Nature (2009) 26.47
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
A whole-genome association study of major determinants for host control of HIV-1. Science (2007) 15.19
Rare variants create synthetic genome-wide associations. PLoS Biol (2010) 14.43
Genetic variation in IL28B and spontaneous clearance of hepatitis C virus. Nature (2009) 13.99
Common variants conferring risk of schizophrenia. Nature (2009) 10.37
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet (2010) 9.53
Discerning the ancestry of European Americans in genetic association studies. PLoS Genet (2007) 7.81
De novo mutations in epileptic encephalopathies. Nature (2013) 7.42
WGAViewer: software for genomic annotation of whole genome association studies. Genome Res (2008) 7.15
A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci. PLoS Genet (2009) 6.93
Hormone replacement therapy and incidence of Alzheimer disease in older women: the Cache County Study. JAMA (2002) 6.72
Interleukin-28B polymorphism improves viral kinetics and is the strongest pretreatment predictor of sustained virologic response in genotype 1 hepatitis C virus. Gastroenterology (2010) 6.14
Genome-wide transcript profiles in aging and calorically restricted Drosophila melanogaster. Curr Biol (2002) 5.58
Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet (2013) 5.58
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet (2010) 5.52
A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet (2009) 5.01
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. Nature (2010) 4.64
Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping. Am J Hum Genet (2003) 4.58
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet (2010) 4.29
HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genet (2009) 4.11
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med (2011) 3.93
Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. Proc Natl Acad Sci U S A (2010) 3.78
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Common genetic variation and the control of HIV-1 in humans. PLoS Genet (2009) 3.68
IL28B genotype is associated with differential expression of intrahepatic interferon-stimulated genes in patients with chronic hepatitis C. Hepatology (2010) 3.57
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Influence of HLA-C expression level on HIV control. Science (2013) 3.27
Long-range LD can confound genome scans in admixed populations. Am J Hum Genet (2008) 3.06
HLA-C cell surface expression and control of HIV/AIDS correlate with a variant upstream of HLA-C. Nat Genet (2009) 3.03
Hepatitis C pharmacogenetics: state of the art in 2010. Hepatology (2011) 2.99
A novel human disease with abnormal prion protein sensitive to protease. Ann Neurol (2008) 2.95
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Age at onset in two common neurodegenerative diseases is genetically controlled. Am J Hum Genet (2002) 2.90
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An IL28B polymorphism determines treatment response of hepatitis C virus genotype 2 or 3 patients who do not achieve a rapid virologic response. Gastroenterology (2010) 2.87
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Reduced risk of Alzheimer disease in users of antioxidant vitamin supplements: the Cache County Study. Arch Neurol (2004) 2.62
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet (2010) 2.61
Alzheimer's disease is associated with reduced expression of energy metabolism genes in posterior cingulate neurons. Proc Natl Acad Sci U S A (2008) 2.59
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A single-nucleotide polymorphism tagging set for human drug metabolism and transport. Nat Genet (2004) 2.44