Published in Nat Rev Genet on July 28, 2009
Genetics and beyond--the transcriptome of human monocytes and disease susceptibility. PLoS One (2010) 7.48
Genetic sensitivity to the environment: the case of the serotonin transporter gene and its implications for studying complex diseases and traits. Am J Psychiatry (2010) 6.15
Heritable individual-specific and allele-specific chromatin signatures in humans. Science (2010) 5.94
Human genome sequencing in health and disease. Annu Rev Med (2012) 3.76
Principles for the post-GWAS functional characterization of cancer risk loci. Nat Genet (2011) 3.73
Correction for hidden confounders in the genetic analysis of gene expression. Proc Natl Acad Sci U S A (2010) 3.08
Natural genetic variation caused by small insertions and deletions in the human genome. Genome Res (2011) 3.00
Beyond GWASs: illuminating the dark road from association to function. Am J Hum Genet (2013) 2.67
Single-tissue and cross-tissue heritability of gene expression via identity-by-descent in related or unrelated individuals. PLoS Genet (2011) 2.53
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
Polymorphic cis- and trans-regulation of human gene expression. PLoS Biol (2010) 2.42
Small insertions and deletions (INDELs) in human genomes. Hum Mol Genet (2010) 2.25
Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses. Nat Protoc (2012) 2.14
Yeast: an experimental organism for 21st Century biology. Genetics (2011) 1.88
A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. PLoS Genet (2011) 1.83
SNPexp - A web tool for calculating and visualizing correlation between HapMap genotypes and gene expression levels. BMC Bioinformatics (2010) 1.81
Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex. Genome Res (2011) 1.80
Rare and common regulatory variation in population-scale sequenced human genomes. PLoS Genet (2011) 1.79
Genomic approaches towards finding cis-regulatory modules in animals. Nat Rev Genet (2012) 1.65
Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent. Genome Res (2011) 1.58
Critical association of ncRNA with introns. Nucleic Acids Res (2010) 1.54
Gene expression drives local adaptation in humans. Genome Res (2013) 1.50
The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics. PLoS One (2012) 1.49
Epistatic selection between coding and regulatory variation in human evolution and disease. Am J Hum Genet (2011) 1.41
Genetic and functional analyses implicate the NUDT11, HNF1B, and SLC22A3 genes in prostate cancer pathogenesis. Proc Natl Acad Sci U S A (2012) 1.34
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
Autosomal monoallelic expression in the mouse. Genome Biol (2012) 1.30
PACdb: a database for cell-based pharmacogenomics. Pharmacogenet Genomics (2010) 1.28
Global chromatin state analysis reveals lineage-specific enhancers during the initiation of human T helper 1 and T helper 2 cell polarization. Immunity (2013) 1.27
A novel molecular signature identified by systems genetics approach predicts prognosis in oral squamous cell carcinoma. PLoS One (2011) 1.27
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. Nucleic Acids Res (2013) 1.25
Genetic variants contribute to gene expression variability in humans. Genetics (2012) 1.20
DNA methylation differences at growth related genes correlate with birth weight: a molecular signature linked to developmental origins of adult disease? BMC Med Genomics (2012) 1.11
Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers. Proc Natl Acad Sci U S A (2012) 1.11
A systems view of genetics in chronic kidney disease. Kidney Int (2011) 1.09
Gene expression and genetic variation in response to endoplasmic reticulum stress in human cells. Am J Hum Genet (2010) 1.07
Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs. BMC Genomics (2014) 1.06
Explaining inter-individual variability in phenotype: is epigenetics up to the challenge? Epigenetics (2010) 1.02
A systematic eQTL study of cis-trans epistasis in 210 HapMap individuals. Eur J Hum Genet (2011) 1.00
Dissecting sources of quantitative gene expression pattern divergence between Drosophila species. Mol Syst Biol (2012) 0.99
Comprehensive microRNA profiling in B-cells of human centenarians by massively parallel sequencing. BMC Genomics (2012) 0.99
Blood RNA profiling in a large cohort of multiple sclerosis patients and healthy controls. Hum Mol Genet (2013) 0.98
Informatics for RNA Sequencing: A Web Resource for Analysis on the Cloud. PLoS Comput Biol (2015) 0.97
Higher-order chromatin domains link eQTLs with the expression of far-away genes. Nucleic Acids Res (2013) 0.97
Transcriptional and epigenetic regulation of T-helper lineage specification. Immunol Rev (2014) 0.97
Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis. J Allergy Clin Immunol (2014) 0.96
Simultaneous SNP identification and assessment of allele-specific bias from ChIP-seq data. BMC Genet (2012) 0.96
Implications of genome-wide association studies in cancer therapeutics. Br J Clin Pharmacol (2013) 0.96
Type 2 diabetes (T2D) associated polymorphisms regulate expression of adjacent transcripts in transformed lymphocytes, adipose, and muscle from Caucasian and African-American subjects. J Clin Endocrinol Metab (2010) 0.96
A systematic approach to understand the functional consequences of non-protein coding risk regions. Cell Cycle (2010) 0.96
Schimke immunoosseous dysplasia: defining skeletal features. Eur J Pediatr (2009) 0.95
Epigenetic differences in normal colon mucosa of cancer patients suggest altered dietary metabolic pathways. Cancer Prev Res (Phila) (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
The evolving discipline of molecular epidemiology of cancer. Carcinogenesis (2009) 0.92
Accounting for non-genetic factors by low-rank representation and sparse regression for eQTL mapping. Bioinformatics (2013) 0.92
Haplotype structure and divergence at human and chimpanzee serotonin transporter and receptor genes: implications for behavioral disorder association analyses. Mol Biol Evol (2010) 0.92
Allele-specific distribution of RNA polymerase II on female X chromosomes. Hum Mol Genet (2011) 0.91
Performance evaluation of indel calling tools using real short-read data. Hum Genomics (2015) 0.91
Identification of candidate susceptibility genes for colorectal cancer through eQTL analysis. Carcinogenesis (2014) 0.90
Brain expression quantitative trait locus mapping informs genetic studies of psychiatric diseases. Neurosci Bull (2011) 0.90
When one and one gives more than two: challenges and opportunities of integrative omics. Front Genet (2012) 0.88
Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci†. Hum Mol Genet (2015) 0.86
Urinary bladder cancer susceptibility markers. What do we know about functional mechanisms? Int J Mol Sci (2013) 0.86
Inference of modules associated to eQTLs. Nucleic Acids Res (2012) 0.85
The genetics of cancer risk. Cancer J (2011) 0.85
The emerging role of microRNAs in drug responses. Curr Opin Mol Ther (2010) 0.85
Expression quantitative trait analyses to identify causal genetic variants for type 2 diabetes susceptibility. World J Diabetes (2014) 0.85
The impact of self-identified race on epidemiologic studies of gene expression. Genet Epidemiol (2011) 0.84
Integrating heterogeneous high-throughput data for meta-dimensional pharmacogenomics and disease-related studies. Pharmacogenomics (2012) 0.84
Amygdala Volume in Offspring from Multiplex for Alcohol Dependence Families: The Moderating Influence of Childhood Environment and 5-HTTLPR Variation. J Alcohol Drug Depend (2013) 0.84
Comprehensive analysis of human endogenous retrovirus group HERV-W locus transcription in multiple sclerosis brain lesions by high-throughput amplicon sequencing. J Virol (2013) 0.83
Genetics of allergic diseases. Immunol Allergy Clin North Am (2014) 0.83
References for Haplotype Imputation in the Big Data Era. Mol Biol (Los Angel) (2015) 0.83
HEFT: eQTL analysis of many thousands of expressed genes while simultaneously controlling for hidden factors. Bioinformatics (2013) 0.83
MicroRNAs Implicated in Dysregulation of Gene Expression Following Human Lung Transplantation. Transl Respir Med (2013) 0.83
Next-generation DNA sequencing-based assay for measuring allelic expression imbalance (AEI) of candidate neuropsychiatric disorder genes in human brain. BMC Genomics (2011) 0.82
Heritability in the efficiency of nonsense-mediated mRNA decay in humans. PLoS One (2010) 0.82
Genetic determinants of HSP70 gene expression following heat shock. Hum Mol Genet (2010) 0.81
Identification of a Novel Mucin Gene HCG22 Associated With Steroid-Induced Ocular Hypertension. Invest Ophthalmol Vis Sci (2015) 0.81
Mapping eQTL networks with mixed graphical Markov models. Genetics (2014) 0.81
Protective alleles and modifier variants in human health and disease. Nat Rev Genet (2015) 0.81
Regulatory Variants and Disease: The E-Cadherin -160C/A SNP as an Example. Mol Biol Int (2014) 0.80
Contribution of large region joint associations to complex traits genetics. PLoS Genet (2015) 0.80
CD38 expression, function, and gene resequencing in a human lymphoblastoid cell line-based model system. Leuk Lymphoma (2010) 0.80
Computational tools for discovery and interpretation of expression quantitative trait loci. Pharmacogenomics (2012) 0.80
Transcriptome profiling of immune tissues reveals habitat-specific gene expression between lake and river sticklebacks. Mol Ecol (2016) 0.79
Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children. BMC Med Genet (2013) 0.79
Identifying the genetic variation of gene expression using gene sets: application of novel gene Set eQTL approach to PharmGKB and KEGG. PLoS One (2012) 0.79
Segregation of regulatory polymorphisms with effects on the gluteus medius transcriptome in a purebred pig population. PLoS One (2012) 0.78
A systematic heritability analysis of the human whole blood transcriptome. Hum Genet (2015) 0.78
Accurate measurement of the relative abundance of different DNA species in complex DNA mixtures. DNA Res (2012) 0.78
An integrated network of microRNA and gene expression in ovarian cancer. BMC Bioinformatics (2015) 0.78
Single nucleotide variants in transcription factors associate more tightly with phenotype than with gene expression. PLoS Genet (2014) 0.78
RNA-Seq using two populations reveals genes and alleles controlling wood traits and growth in Eucalyptus nitens. PLoS One (2014) 0.77
RTeQTL: Real-Time Online Engine for Expression Quantitative Trait Loci Analyses. Database (Oxford) (2014) 0.77
Seasonal effects on gene expression. PLoS One (2015) 0.77
Influences of gestational obesity on associations between genotypes and gene expression levels in offspring following maternal gastrointestinal bypass surgery for obesity. PLoS One (2015) 0.76
Phenotyping patient-derived cells for translational studies in cardiovascular disease. Circulation (2011) 0.76
Genetic variation in insulin-induced kinase signaling. Mol Syst Biol (2015) 0.76
Genetics of gene expression: Mapping across tissues. Nat Rev Genet (2010) 0.75
Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods (2008) 126.81
A haplotype map of the human genome. Nature (2005) 105.70
The International HapMap Project. Nature (2003) 73.65
Global variation in copy number in the human genome. Nature (2006) 57.50
Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet (1993) 51.42
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
Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science (2007) 23.38
A genome-wide association study of global gene expression. Nat Genet (2007) 22.98
A general test of association for quantitative traits in nuclear families. Am J Hum Genet (2000) 22.45
Genetics of gene expression surveyed in maize, mouse and man. Nature (2003) 22.17
Genetics of gene expression and its effect on disease. Nature (2008) 21.35
Mapping the genetic architecture of gene expression in human liver. PLoS Biol (2008) 19.44
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
Use of a cDNA microarray to analyse gene expression patterns in human cancer. Nat Genet (1996) 15.73
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature (2007) 14.43
A survey of genetic human cortical gene expression. Nat Genet (2007) 12.04
Variations in DNA elucidate molecular networks that cause disease. Nature (2008) 12.04
Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors. Nat Genet (2003) 11.84
Natural variation in human gene expression assessed in lymphoblastoid cells. Nat Genet (2003) 11.63
Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes. Nat Genet (2007) 11.09
Complex trait analysis of gene expression uncovers polygenic and pleiotropic networks that modulate nervous system function. Nat Genet (2005) 10.03
Coexpression analysis of human genes across many microarray data sets. Genome Res (2004) 9.38
Common genetic variants account for differences in gene expression among ethnic groups. Nat Genet (2007) 9.04
Genetic inheritance of gene expression in human cell lines. Am J Hum Genet (2004) 8.97
Genetical genomics: the added value from segregation. Trends Genet (2001) 8.23
Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease. Nat Genet (2005) 7.82
Multiplexed biochemical assays with biological chips. Nature (1993) 7.69
Mapping complex disease traits with global gene expression. Nat Rev Genet (2009) 7.44
Genetics of global gene expression. Nat Rev Genet (2006) 6.80
Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science (2008) 6.66
Individuality and variation in gene expression patterns in human blood. Proc Natl Acad Sci U S A (2003) 6.49
Pedigree tests of transmission disequilibrium. Eur J Hum Genet (2000) 5.93
Integrating genetic and network analysis to characterize genes related to mouse weight. PLoS Genet (2006) 5.82
Revealing the architecture of gene regulation: the promise of eQTL studies. Trends Genet (2008) 5.78
Allelic variation in gene expression is common in the human genome. Genome Res (2003) 5.50
Systems genetics of complex traits in Drosophila melanogaster. Nat Genet (2009) 5.41
In vivo characterization of regulatory polymorphisms by allele-specific quantification of RNA polymerase loading. Nat Genet (2003) 5.10
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS Genet (2008) 5.08
A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics (2004) 4.99
The genetics of variation in gene expression. Nat Genet (2002) 4.83
Validating, augmenting and refining genome-wide association signals. Nat Rev Genet (2009) 4.56
Gene-environment interaction in yeast gene expression. PLoS Biol (2008) 4.48
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet (2008) 4.16
Evaluation of genetic variation contributing to differences in gene expression between populations. Am J Hum Genet (2008) 4.01
A putative ABC transporter confers durable resistance to multiple fungal pathogens in wheat. Science (2009) 3.85
Gene-expression variation within and among human populations. Am J Hum Genet (2007) 3.84
Mapping determinants of gene expression plasticity by genetical genomics in C. elegans. PLoS Genet (2006) 3.39
Genetic architecture of transcript-level variation in humans. Am J Hum Genet (2008) 3.36
Analysis of allelic differential expression in human white blood cells. Genome Res (2006) 3.07
Identification of inflammatory gene modules based on variations of human endothelial cell responses to oxidized lipids. Proc Natl Acad Sci U S A (2006) 3.03
Validation of candidate causal genes for obesity that affect shared metabolic pathways and networks. Nat Genet (2009) 2.97
Conservation and coevolution in the scale-free human gene coexpression network. Mol Biol Evol (2004) 2.78
Genetic and functional confirmation of the causality of the DGAT1 K232A quantitative trait nucleotide in affecting milk yield and composition. Proc Natl Acad Sci U S A (2004) 2.72
Methods for handling multiple testing. Adv Genet (2008) 2.67
Genetical genomics: spotlight on QTL hotspots. PLoS Genet (2008) 2.63
Family-based tests of association and linkage that use unaffected sibs, covariates, and interactions. Am J Hum Genet (2000) 2.59
Genetics of quantitative variation in human gene expression. Cold Spring Harb Symp Quant Biol (2003) 2.55
Using genetic markers to orient the edges in quantitative trait networks: the NEO software. BMC Syst Biol (2008) 2.51
Genetic analysis of radiation-induced changes in human gene expression. Nature (2009) 2.30
Influence of human genome polymorphism on gene expression. Hum Mol Genet (2006) 2.14
Effects of cis and trans genetic ancestry on gene expression in African Americans. PLoS Genet (2008) 2.09
The genetics of regulatory variation in the human genome. Hum Genomics (2005) 2.05
From genotype to phenotype: systems biology meets natural variation. Science (2008) 1.93
Genetic architecture of mouse skin inflammation and tumour susceptibility. Nature (2009) 1.89
Using gene expression to investigate the genetic basis of complex disorders. Hum Mol Genet (2008) 1.82
Genetic regulation of gene expression during shoot development in Arabidopsis. Genetics (2005) 1.77
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
Co-regulated transcriptional networks contribute to natural genetic variation in Drosophila sleep. Nat Genet (2009) 1.59
Genetical genomics: combining genetics with gene expression analysis. Hum Mol Genet (2005) 1.49
Quantitative genetic variation: a post-modern view. Hum Mol Genet (2004) 1.46
Population-specific genetic variants important in susceptibility to cytarabine arabinoside cytotoxicity. Blood (2008) 1.46
A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. Am J Hum Genet (2007) 1.27
Monozygotic twins reveal germline contribution to allelic expression differences. Am J Hum Genet (2008) 1.23
Genetic analysis of genome-wide variation in human gene expression. Nature (2004) 27.28
Mapping determinants of human gene expression by regional and genome-wide association. Nature (2005) 17.24
Natural variation in human gene expression assessed in lymphoblastoid cells. Nat Genet (2003) 11.63
The genetics of variation in gene expression. Nat Genet (2002) 4.83
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
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
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
The TDT is a statistically valid test: comments on Wittkowski and Liu. Hum Hered (2004) 0.89
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
Genetic heterogeneity and trans regulators of gene expression. BMC Proc (2007) 0.84
The keeshond defect in cardiac conotruncal development is oligogenic. Hum Genet (2005) 0.84
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
Introduction to Genetic Analysis Workshop 15 summaries. Genet Epidemiol (2007) 0.80
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
Linkage and association with type 1 diabetes on chromosome 1q42. Diabetes (2002) 0.77
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
Disease associations and family-based tests. Curr Protoc Hum Genet (2008) 0.75
Bridging genetics and genomics in neurology. Neurol Clin (2002) 0.75
Disease associations and family-based tests. Curr Protoc Hum Genet (2003) 0.75