Published in Nat Genet on February 03, 2003
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
Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature (2010) 16.86
High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet (2008) 9.68
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
Mapping complex disease traits with global gene expression. Nat Rev Genet (2009) 7.44
Revealing the architecture of gene regulation: the promise of eQTL studies. Trends Genet (2008) 5.78
Multiple locus linkage analysis of genomewide expression in yeast. PLoS Biol (2005) 5.61
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS Genet (2008) 5.08
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
Gene-expression variation within and among human populations. Am J Hum Genet (2007) 3.84
On the utility of pooling biological samples in microarray experiments. Proc Natl Acad Sci U S A (2005) 3.48
Regulatory polymorphisms underlying complex disease traits. J Mol Med (Berl) (2004) 3.22
Extensive sex-specific nonadditivity of gene expression in Drosophila melanogaster. Genetics (2004) 3.12
Analysis of allelic differential expression in human white blood cells. Genome Res (2006) 3.07
Natural genetic variation caused by small insertions and deletions in the human genome. Genome Res (2011) 3.00
Integrative eQTL-based analyses reveal the biology of breast cancer risk loci. Cell (2013) 2.56
Dissecting the regulatory architecture of gene expression QTLs. Genome Biol (2012) 2.51
A statistical framework for joint eQTL analysis in multiple tissues. PLoS Genet (2013) 2.46
Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci. Proc Natl Acad Sci U S A (2010) 2.43
Polymorphic cis- and trans-regulation of human gene expression. PLoS Biol (2010) 2.42
Genome-wide discovery of loci influencing chemotherapy cytotoxicity. Proc Natl Acad Sci U S A (2004) 2.37
Neutral and adaptive variation in gene expression. Proc Natl Acad Sci U S A (2006) 2.37
Gene expression patterns in human placenta. Proc Natl Acad Sci U S A (2006) 2.33
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
Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression. PLoS Genet (2012) 2.29
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS Genet (2012) 2.23
Child health, developmental plasticity, and epigenetic programming. Endocr Rev (2010) 2.15
Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes. Am J Hum Genet (2007) 2.06
Effect of population and gender on chemotherapeutic agent-induced cytotoxicity. Mol Cancer Ther (2007) 2.05
The genetics of regulatory variation in the human genome. Hum Genomics (2005) 2.05
The functional impact of structural variation in humans. Trends Genet (2008) 2.03
A probabilistic generative model for GO enrichment analysis. Nucleic Acids Res (2008) 2.01
Pharmacogenomic discovery using cell-based models. Pharmacol Rev (2009) 1.96
Identification of common genetic variants that account for transcript isoform variation between human populations. Hum Genet (2008) 1.96
Population genetic variation in gene expression is associated with phenotypic variation in Saccharomyces cerevisiae. Genome Biol (2004) 1.96
Harnessing naturally randomized transcription to infer regulatory relationships among genes. Genome Biol (2007) 1.94
Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes. Hum Mol Genet (2010) 1.89
Genetic variation in human gene expression. Mamm Genome (2006) 1.88
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet (2007) 1.86
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome. Genome Res (2004) 1.75
Coexpression network based on natural variation in human gene expression reveals gene interactions and functions. Genome Res (2009) 1.74
Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15. Hum Mutat (2010) 1.73
The HapMap Resource is Providing New Insights into Ourselves and its Application to Pharmacogenomics. Bioinform Biol Insights (2008) 1.73
Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes. BMC Genomics (2006) 1.73
Allele-specific chromatin immunoprecipitation studies show genetic influence on chromatin state in human genome. PLoS Genet (2007) 1.71
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts. Genome Res (2010) 1.67
Complex nature of SNP genotype effects on gene expression in primary human leucocytes. BMC Med Genomics (2009) 1.64
Tissue effect on genetic control of transcript isoform variation. PLoS Genet (2009) 1.59
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
Variation in tissue-specific gene expression among natural populations. Genome Biol (2005) 1.56
Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP). Bone (2008) 1.53
Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism. Autism Res (2009) 1.53
Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. Pharmacogenet Genomics (2008) 1.51
Mapping gene expression quantitative trait loci by singular value decomposition and independent component analysis. BMC Bioinformatics (2008) 1.51
Is cancer a disease of abnormal cellular metabolism? New angles on an old idea. Genet Med (2008) 1.50
Impact of microRNA regulation on variation in human gene expression. Genome Res (2012) 1.49
Genetic analysis of variation in gene expression in Arabidopsis thaliana. Genetics (2005) 1.47
Differential variability analysis of gene expression and its application to human diseases. Bioinformatics (2008) 1.46
Modularity and interactions in the genetics of gene expression. Proc Natl Acad Sci U S A (2009) 1.41
Pharmacogenomics: candidate gene identification, functional validation and mechanisms. Hum Mol Genet (2008) 1.41
Analysis of the 10q11 cancer risk locus implicates MSMB and NCOA4 in human prostate tumorigenesis. PLoS Genet (2010) 1.40
Enhancer Runaway and the Evolution of Diploid Gene Expression. PLoS Genet (2015) 1.39
Analytical methods for inferring functional effects of single base pair substitutions in human cancers. Hum Genet (2009) 1.39
Toward a neutral evolutionary model of gene expression. Genetics (2005) 1.38
Genetic variation in radiation-induced expression phenotypes. Am J Hum Genet (2004) 1.37
Profiles of global gene expression in ionizing-radiation-damaged human diploid fibroblasts reveal synchronization behind the G1 checkpoint in a G0-like state of quiescence. Environ Health Perspect (2006) 1.34
Pharmacogenomic characterization of US FDA-approved cytotoxic drugs. Pharmacogenomics (2011) 1.34
Selective phenotyping for increased efficiency in genetic mapping studies. Genetics (2004) 1.34
Evolving gene expression: from G to E to GxE. Trends Ecol Evol (2009) 1.34
A survey of allelic imbalance in F1 mice. Genome Res (2008) 1.32
Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. PLoS Genet (2009) 1.30
Expression patterns of transcribed human endogenous retrovirus HERV-K(HML-2) loci in human tissues and the need for a HERV Transcriptome Project. BMC Genomics (2008) 1.29
Genome-wide expression of azoospermia testes demonstrates a specific profile and implicates ART3 in genetic susceptibility. PLoS Genet (2008) 1.28
Epigenetics and phenotypic variation in mammals. Mamm Genome (2006) 1.26
Utilization of lymphoblastoid cell lines as a system for the molecular modeling of autism. J Autism Dev Disord (2006) 1.26
Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes. PLoS Genet (2010) 1.24
Sex specific gene regulation and expression QTLs in mouse macrophages from a strain intercross. PLoS One (2008) 1.24
Use of pathway information in molecular epidemiology. Hum Genomics (2009) 1.22
In vitro whole-genome analysis identifies a susceptibility locus for HIV-1. PLoS Biol (2008) 1.22
Genomic predictors of interindividual differences in response to DNA damaging agents. Genes Dev (2008) 1.20
Validating discovered Cis-acting regulatory genetic variants: application of an allele specific expression approach to HapMap populations. PLoS One (2008) 1.20
Estimating the potential for adaptation of corals to climate warming. PLoS One (2010) 1.19
Allele-specific gene expression is widespread across the genome and biological processes. PLoS One (2009) 1.18
Data for Genetic Analysis Workshop (GAW) 15, Problem 1: genetics of gene expression variation in humans. BMC Proc (2007) 1.18
Detection of functional single-nucleotide polymorphisms that affect apoptosis. Proc Natl Acad Sci U S A (2005) 1.18
Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast. Breast Cancer Res (2009) 1.16
Identification of brain transcriptional variation reproduced in peripheral blood: an approach for mapping brain expression traits. Hum Mol Genet (2009) 1.15
Prediction of in vivo radiation dose status in radiotherapy patients using ex vivo and in vivo gene expression signatures. Radiat Res (2011) 1.14
Human placental-specific epipolymorphism and its association with adverse pregnancy outcomes. PLoS One (2009) 1.14
Impact of the 1000 genomes project on the next wave of pharmacogenomic discovery. Pharmacogenomics (2010) 1.12
The human Major Histocompatibility Complex as a paradigm in genomics research. Brief Funct Genomic Proteomic (2009) 1.11
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. Am J Hum Genet (2009) 1.11
New methods for finding disease-susceptibility genes: impact and potential. Genome Biol (2003) 1.11
Genetics of sputum gene expression in chronic obstructive pulmonary disease. PLoS One (2011) 1.11
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
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
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res (2009) 4.32
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
CUL4A induces epithelial-mesenchymal transition and promotes cancer metastasis by regulating ZEB1 expression. Cancer Res (2013) 1.48
Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations. Clin Lab Med (2011) 1.44
The relationship between gender role stereotypes and requisite managerial characteristics: the case of nursing and midwifery professionals. J Nurs Manag (2012) 1.40
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. Am J Med Genet A (2011) 1.39
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
Deletion of the PER3 gene on chromosome 1p36 in recurrent ER-positive breast cancer. J Clin Oncol (2010) 1.10
SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Hum Mutat (2009) 1.08
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant? Eur J Med Genet (2010) 1.08
Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC Med Genet (2011) 1.08
Gene expression and genetic variation in response to endoplasmic reticulum stress in human cells. Am J Hum Genet (2010) 1.07
Pten regulates Aurora-A and cooperates with Fbxw7 in modulating radiation-induced tumor development. Mol Cancer Res (2012) 1.05
Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum. Am J Med Genet A (2010) 1.05
Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals. Am J Med Genet A (2008) 1.03
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Am J Med Genet A (2010) 0.99
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet (2016) 0.99
Variation in resistin gene promoter not associated with polycystic ovary syndrome. Diabetes (2003) 0.97
Rewiring of human lung cell lineage and mitotic networks in lung adenocarcinomas. Nat Commun (2013) 0.95
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. Am J Med Genet A (2013) 0.95
Genetic variation in radiation-induced cell death. Genome Res (2011) 0.94
Pauci-immune glomerulonephritis in individuals with disease associated with levamisole-adulterated cocaine: a series of 4 cases. Medicine (Baltimore) (2014) 0.94
Inflammation and Hras signaling control epithelial-mesenchymal transition during skin tumor progression. Genes Dev (2013) 0.94
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops. PLoS One (2013) 0.94
Mosaicism and clinical genetics. Am J Med Genet C Semin Med Genet (2014) 0.93
Oxetane modified, conformationally constrained, antisense oligodeoxyribonucleotides function efficiently as gene silencing molecules. Nucleic Acids Res (2004) 0.91
Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20. Am J Med Genet A (2010) 0.89
The TDT is a statistically valid test: comments on Wittkowski and Liu. Hum Hered (2004) 0.89
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet A (2013) 0.88
Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. Am J Med Genet A (2012) 0.88
Mosaic trisomy 17: variable clinical and cytogenetic presentation. Am J Med Genet A (2011) 0.87
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
Type 2 diabetes susceptibility single-nucleotide polymorphisms are not associated with polycystic ovary syndrome. Fertil Steril (2011) 0.86
Method for manufacturing whole-genome microarrays by rolling circle amplification. Genes Chromosomes Cancer (2004) 0.86
Ptch1 overexpression drives skin carcinogenesis and developmental defects in K14Ptch(FVB) mice. J Invest Dermatol (2012) 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
Ring chromosome 20. Eur J Med Genet (2012) 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
Water structure in vitro and within Saccharomyces cerevisiae yeast cells under conditions of heat shock. Biochim Biophys Acta (2007) 0.82
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. Am J Med Genet A (2013) 0.81
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol (2011) 0.81
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia. Am J Hum Genet (2013) 0.81
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
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array. Am J Med Genet A (2012) 0.79
Recurrent HIV-associated immune complex glomerulonephritis with lupus-like features after kidney transplantation. Am J Kidney Dis (2013) 0.79
Steroid-free emollient formulations reduce symptoms of eczema and improve quality of life. J Drugs Dermatol (2014) 0.78
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
Clonal diversity analysis using SNP microarray: a new prognostic tool for chronic lymphocytic leukemia. Cancer Genet (2011) 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
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
Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function. J Clin Invest (2017) 0.75
Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood. Case Rep Genet (2013) 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
Update on "two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20". Am J Med Genet A (2010) 0.75
Nerve block. J Am Dent Assoc (2012) 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
Disease associations and family-based tests. Curr Protoc Hum Genet (2008) 0.75
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7. Am J Med Genet A (2014) 0.75
Cocaine/levamisole-associated autoimmune syndrome: a disease of neutrophil-mediated autoimmunity. Curr Opin Hematol (2018) 0.75
Donor Liver Small Droplet Macrovesicular Steatosis is Associated With Increased Risk for Recipient Allograft Rejection. Am J Surg Pathol (2017) 0.75