Published in Nature on October 27, 2005
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Population genomics of human gene expression. Nat Genet (2007) 24.49
Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (2007) 23.38
Mapping the genetic architecture of gene expression in human liver. PLoS Biol (2008) 19.44
Genotype imputation. Annu Rev Genomics Hum Genet (2009) 18.64
A HapMap harvest of insights into the genetics of common disease. J Clin Invest (2008) 18.31
Genome-wide associations of gene expression variation in humans. PLoS Genet (2005) 17.27
Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature (2010) 16.86
Family-based association tests for genomewide association scans. Am J Hum Genet (2007) 10.67
High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet (2008) 9.68
Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet (2006) 9.44
Genomewide association studies and human disease. N Engl J Med (2009) 9.05
Common genetic variants account for differences in gene expression among ethnic groups. Nat Genet (2007) 9.04
Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet (2012) 6.97
DNase I sensitivity QTLs are a major determinant of human expression variation. Nature (2012) 6.17
The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet (2011) 5.95
Revealing the architecture of gene regulation: the promise of eQTL studies. Trends Genet (2008) 5.78
The personal genome project. Mol Syst Biol (2005) 5.47
Systems genetics of complex traits in Drosophila melanogaster. Nat Genet (2009) 5.41
Patterns of cis regulatory variation in diverse human populations. PLoS Genet (2012) 5.28
Tissue-specific genetic control of splicing: implications for the study of complex traits. PLoS Biol (2008) 5.08
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS Genet (2008) 5.08
Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations. PLoS Genet (2010) 4.95
A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet (2008) 4.75
Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nat Genet (2009) 4.72
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A (2007) 4.71
A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity. Proc Natl Acad Sci U S A (2007) 4.35
Genetics of human gene expression: mapping DNA variants that influence gene expression. Nat Rev Genet (2009) 4.05
Evaluation of genetic variation contributing to differences in gene expression between populations. Am J Hum Genet (2008) 4.01
Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression. PLoS Genet (2008) 3.92
Accommodating linkage disequilibrium in genetic-association analyses via ridge regression. Am J Hum Genet (2008) 3.86
Generalized genomic distance-based regression methodology for multilocus association analysis. Am J Hum Genet (2006) 3.79
Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles. Nat Genet (2012) 3.77
Identifying regulatory mechanisms using individual variation reveals key role for chromatin modification. Proc Natl Acad Sci U S A (2006) 3.68
Accurate discovery of expression quantitative trait loci under confounding from spurious and genuine regulatory hotspots. Genetics (2008) 3.66
Sequence polymorphisms cause many false cis eQTLs. PLoS One (2007) 3.54
Genetic architecture of transcript-level variation in humans. Am J Hum Genet (2008) 3.36
Genetic control of human brain transcript expression in Alzheimer disease. Am J Hum Genet (2009) 3.35
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet (2006) 3.18
Targeted screening of cis-regulatory variation in human haplotypes. Genome Res (2008) 3.10
Heritability and tissue specificity of expression quantitative trait loci. PLoS Genet (2006) 2.80
A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells. PLoS Genet (2009) 2.78
Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. PLoS Genet (2011) 2.68
Genetical genomics: spotlight on QTL hotspots. PLoS Genet (2008) 2.63
Dissecting the regulatory architecture of gene expression QTLs. Genome Biol (2012) 2.51
Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence. Mol Psychiatry (2008) 2.49
Polymorphic cis- and trans-regulation of human gene expression. PLoS Biol (2010) 2.42
Moving toward a system genetics view of disease. Mamm Genome (2007) 2.38
Geographical genomics of human leukocyte gene expression variation in southern Morocco. Nat Genet (2009) 2.38
Statistical estimation of correlated genome associations to a quantitative trait network. PLoS Genet (2009) 2.34
Gene set enrichment in eQTL data identifies novel annotations and pathway regulators. PLoS Genet (2008) 2.32
Enriching the analysis of genomewide association studies with hierarchical modeling. Am J Hum Genet (2007) 2.32
Genetic analysis of radiation-induced changes in human gene expression. Nature (2009) 2.30
SNP-specific array-based allele-specific expression analysis. Genome Res (2008) 2.30
Cis-transcriptional variation in maize inbred lines B73 and Mo17 leads to additive expression patterns in the F1 hybrid. Genetics (2006) 2.29
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS Genet (2012) 2.23
Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation. PLoS Genet (2010) 2.14
Effects of cis and trans genetic ancestry on gene expression in African Americans. PLoS Genet (2008) 2.09
Frequent gain and loss of functional transcription factor binding sites. PLoS Comput Biol (2007) 2.04
Genomewide association analysis in diverse inbred mice: power and population structure. Genetics (2007) 2.01
A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5. Hum Mol Genet (2008) 1.98
A multivariate regression approach to association analysis of a quantitative trait network. Bioinformatics (2009) 1.97
Pharmacogenomic discovery using cell-based models. Pharmacol Rev (2009) 1.96
Identification of common genetic variation that modulates alternative splicing. PLoS Genet (2007) 1.96
Toward the dynamic interactome: it's about time. Brief Bioinform (2010) 1.91
Genome-wide association with select biomarker traits in the Framingham Heart Study. BMC Med Genet (2007) 1.90
Genetic variation in human gene expression. Mamm Genome (2006) 1.88
Comparison of multipoint linkage analyses for quantitative traits in the CEPH data: parametric LOD scores, variance components LOD scores, and Bayes factors. BMC Proc (2007) 1.84
Using gene expression to investigate the genetic basis of complex disorders. Hum Mol Genet (2008) 1.82
Neuroscience in the era of functional genomics and systems biology. Nature (2009) 1.80
Effect of polymorphisms within probe-target sequences on olignonucleotide microarray experiments. Nucleic Acids Res (2008) 1.80
Cell-to-cell stochastic variation in gene expression is a complex genetic trait. PLoS Genet (2008) 1.79
Identification of polymorphic antioxidant response elements in the human genome. Hum Mol Genet (2007) 1.79
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing. PLoS Genet (2015) 1.78
Genome-wide sparse canonical correlation of gene expression with genotypes. BMC Proc (2007) 1.78
Transcript profiling by 3'-untranslated region sequencing resolves expression of gene families. Plant Physiol (2007) 1.78
Genotype-based matching to correct for population stratification in large-scale case-control genetic association studies. Genet Epidemiol (2009) 1.76
The effects of EBV transformation on gene expression levels and methylation profiles. Hum Mol Genet (2011) 1.74
Coexpression network based on natural variation in human gene expression reveals gene interactions and functions. Genome Res (2009) 1.74
The HapMap Resource is Providing New Insights into Ourselves and its Application to Pharmacogenomics. Bioinform Biol Insights (2008) 1.73
High-resolution mapping of gene expression using association in an outbred mouse stock. PLoS Genet (2008) 1.72
Whole-genome association mapping of gene expression in the human prefrontal cortex. Mol Psychiatry (2010) 1.69
Systems genetics analysis of gene-by-environment interactions in human cells. Am J Hum Genet (2010) 1.69
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts. Genome Res (2010) 1.67
Bayesian graphical models for genomewide association studies. Am J Hum Genet (2006) 1.66
Unraveling the genetics of systemic lupus erythematosus. Springer Semin Immunopathol (2006) 1.64
Patrocles: a database of polymorphic miRNA-mediated gene regulation in vertebrates. Nucleic Acids Res (2009) 1.60
Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations. J Med Genet (2008) 1.59
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
Genetic variants contributing to daunorubicin-induced cytotoxicity. Cancer Res (2008) 1.57
From DNA to RNA to disease and back: the 'central dogma' of regulatory disease variation. Hum Genomics (2006) 1.56
Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologies. Mutat Res (2008) 1.56
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein. Nat Genet (2008) 1.45
ATOM: a powerful gene-based association test by combining optimally weighted markers. Bioinformatics (2008) 1.44
Allele-specific KRT1 expression is a complex trait. PLoS Genet (2006) 1.41
Identifying causal variants at loci with multiple signals of association. Genetics (2014) 1.41
Analytical methods for inferring functional effects of single base pair substitutions in human cancers. Hum Genet (2009) 1.39
Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells. Nucleic Acids Res (2007) 1.36
The International HapMap Project. Nature (2003) 73.65
The future of genetic studies of complex human diseases. Science (1996) 64.76
Genome-wide association studies for common diseases and complex traits. Nat Rev Genet (2005) 33.96
Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10
Genetic dissection of complex traits. Science (1994) 29.54
Genetic analysis of genome-wide variation in human gene expression. Nature (2004) 27.28
Genetic dissection of transcriptional regulation in budding yeast. Science (2002) 25.01
Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet (2005) 14.30
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet (2003) 13.60
Natural variation in human gene expression assessed in lymphoblastoid cells. Nat Genet (2003) 11.63
Different phosphorylated forms of RNA polymerase II and associated mRNA processing factors during transcription. Genes Dev (2000) 10.64
Genetic inheritance of gene expression in human cell lines. Am J Hum Genet (2004) 8.97
Finding genes that underlie complex traits. Science (2002) 7.39
Mapping complex disease loci in whole-genome association studies. Nature (2004) 7.31
Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet (2002) 6.46
In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading. Nat Genet (2003) 5.10
The genetics of variation in gene expression. Nat Genet (2002) 4.83
High-throughput screening of chromatin immunoprecipitates using CpG-island microarrays. Methods Enzymol (2004) 3.76
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet (2002) 2.74
Expression-based discovery of variation in the human glutathione S-transferase M3 promoter and functional analysis in a glioma cell line using allele-specific chromatin immunoprecipitation. Cancer Res (2005) 1.62
Experimental designs for reliable detection of linkage disequilibrium in unstructured random population association studies. Genetics (2005) 1.54
Genetic analysis of genome-wide variation in human gene expression. Nature (2004) 27.28
Natural variation in human gene expression assessed in lymphoblastoid cells. Nat Genet (2003) 11.63
Common genetic variants account for differences in gene expression among ethnic groups. Nat Genet (2007) 9.04
The genetics of variation in gene expression. Nat Genet (2002) 4.83
Genetics of human gene expression: mapping DNA variants that influence gene expression. Nat Rev Genet (2009) 4.05
Polymorphic cis- and trans-regulation of human gene expression. PLoS Biol (2010) 2.42
Genetic analysis of radiation-induced changes in human gene expression. Nature (2009) 2.30
Effects of cis and trans genetic ancestry on gene expression in African Americans. PLoS Genet (2008) 2.09
RNA-sequence analysis of human B-cells. Genome Res (2011) 2.02
A randomised controlled trial to test the feasibility of a collaborative care model for the management of depression in older people. Br J Gen Pract (2007) 1.98
Family-based analysis of candidate genes for polycystic ovary syndrome. J Clin Endocrinol Metab (2010) 1.84
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. Am J Med Genet A (2004) 1.79
Coexpression network based on natural variation in human gene expression reveals gene interactions and functions. Genome Res (2009) 1.74
Polymorphic variation in human meiotic recombination. Am J Hum Genet (2007) 1.49
The relationship between gender role stereotypes and requisite managerial characteristics: the case of nursing and midwifery professionals. J Nurs Manag (2012) 1.40
Catechol-O-methyltransferase (COMT) single nucleotide polymorphisms and haplotypes are not major risk factors for polycystic ovary syndrome. Mol Cell Endocrinol (2011) 1.38
Assessment of 115 candidate genes for diabetic nephropathy by transmission/disequilibrium test. Diabetes (2005) 1.25
Monozygotic twins reveal germline contribution to allelic expression differences. Am J Hum Genet (2008) 1.23
Data for Genetic Analysis Workshop (GAW) 15, Problem 1: genetics of gene expression variation in humans. BMC Proc (2007) 1.18
Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. Am J Hum Genet (2002) 1.18
FTO and MC4R gene variants are associated with obesity in polycystic ovary syndrome. PLoS One (2011) 1.16
Ovulatory response to treatment of polycystic ovary syndrome is associated with a polymorphism in the STK11 gene. J Clin Endocrinol Metab (2007) 1.14
A review of family-based tests for linkage disequilibrium between a quantitative trait and a genetic marker. PLoS Genet (2008) 1.12
Gene expression and genetic variation in response to endoplasmic reticulum stress in human cells. Am J Hum Genet (2010) 1.07
Variation in resistin gene promoter not associated with polycystic ovary syndrome. Diabetes (2003) 0.97
Genetic variation in radiation-induced cell death. Genome Res (2011) 0.94
A quantitative model of normal Caenorhabditis elegans embryogenesis and its disruption after stress. Dev Biol (2012) 0.94
The TDT is a statistically valid test: comments on Wittkowski and Liu. Hum Hered (2004) 0.89
An over-the-counter moisturizer is as clinically effective as, and more cost-effective than, prescription barrier creams in the treatment of children with mild-to-moderate atopic dermatitis: a randomized, controlled trial. J Drugs Dermatol (2011) 0.87
Stability of alginate microbead properties in vitro. J Mater Sci Mater Med (2012) 0.86
Method for manufacturing whole-genome microarrays by rolling circle amplification. Genes Chromosomes Cancer (2004) 0.86
Type 2 diabetes susceptibility single-nucleotide polymorphisms are not associated with polycystic ovary syndrome. Fertil Steril (2011) 0.86
What is the significance of a significant TDT? Hum Hered (2006) 0.85
The keeshond defect in cardiac conotruncal development is oligogenic. Hum Genet (2005) 0.84
Genetic heterogeneity and trans regulators of gene expression. BMC Proc (2007) 0.84
Rapid assessment of avoidable blindness in Bhutan. Ophthalmic Epidemiol (2013) 0.83
A variant in the fibrillin-3 gene is associated with TGF-β and inhibin B levels in women with polycystic ovary syndrome. Fertil Steril (2010) 0.83
PDE8A genetic variation, polycystic ovary syndrome and androgen levels in women. Mol Hum Reprod (2009) 0.83
Polymorphisms in the SHBG gene influence serum SHBG levels in women with polycystic ovary syndrome. J Clin Endocrinol Metab (2011) 0.82
Introduction to Genetic Analysis Workshop 15 summaries. Genet Epidemiol (2007) 0.80
Treatment of xerosis with a topical formulation containing glyceryl glucoside, natural moisturizing factors, and ceramide. J Clin Aesthet Dermatol (2012) 0.79
Nuclear and mitochondrial genetic variation in the Yanomamö: a test case for ancient DNA studies of prehistoric populations. Am J Phys Anthropol (2002) 0.78
Steroid-free emollient formulations reduce symptoms of eczema and improve quality of life. J Drugs Dermatol (2014) 0.78
Linkage and association with type 1 diabetes on chromosome 1q42. Diabetes (2002) 0.77
Direct IBD mapping: identical-by-descent mapping without genotyping. Genomics (2004) 0.76
Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. J Clin Invest (2017) 0.75
A latent class model for testing for linkage and classifying families when the sample may contain segregating and non-segregating families. Hum Hered (2010) 0.75
Nerve block. J Am Dent Assoc (2012) 0.75
Molecular karyotyping for detection of prognostic markers in fine needle aspiration biopsy samples of uveal melanoma. Methods Mol Biol (2014) 0.75
Steroid-Free Over-the-Counter Eczema Skin Care Formulations Reduce Risk of Flare, Prolong Time to Flare, and Reduce Eczema Symptoms in Pediatric Subjects With Atopic Dermatitis. J Drugs Dermatol (2015) 0.75
Disease associations and family-based tests. Curr Protoc Hum Genet (2008) 0.75
Disease associations and family-based tests. Curr Protoc Hum Genet (2003) 0.75
Bridging genetics and genomics in neurology. Neurol Clin (2002) 0.75