The Genotype-Tissue Expression (GTEx) project.

Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science (2015) 9.92

Single-cell RNA-seq highlights intratumoral heterogeneity in primary glioblastoma. Science (2014) 6.09

Molecular and genetic properties of tumors associated with local immune cytolytic activity. Cell (2015) 4.16

Human genomics. The human transcriptome across tissues and individuals. Science (2015) 3.53

Distribution and medical impact of loss-of-function variants in the Finnish founder population. PLoS Genet (2014) 2.89

A survey of best practices for RNA-seq data analysis. Genome Biol (2016) 2.37

Current status and new features of the Consensus Coding Sequence database. Nucleic Acids Res (2013) 2.19

An Essential Role of the Mitochondrial Electron Transport Chain in Cell Proliferation Is to Enable Aspartate Synthesis. Cell (2015) 2.03

Gene: a gene-centered information resource at NCBI. Nucleic Acids Res (2014) 2.00

Systems genetics approaches to understand complex traits. Nat Rev Genet (2013) 1.97

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome. Science (2015) 1.95

Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease. PLoS Genet (2014) 1.88

A gene-based association method for mapping traits using reference transcriptome data. Nat Genet (2015) 1.82

Alternative transcription initiation leads to expression of a novel ALK isoform in cancer. Nature (2015) 1.65

Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans. Blood (2014) 1.63

Identification and systematic annotation of tissue-specific differentially methylated regions using the Illumina 450k array. Epigenetics Chromatin (2013) 1.62

Comparison of the transcriptional landscapes between human and mouse tissues. Proc Natl Acad Sci U S A (2014) 1.60

Bicc1 is a genetic determinant of osteoblastogenesis and bone mineral density. J Clin Invest (2014) 1.53

Integrative data mining highlights candidate genes for monogenic myopathies. PLoS One (2014) 1.49

Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. Nat Genet (2014) 1.49

The Landscape of long noncoding RNA classification. Trends Genet (2015) 1.47

Promoter-like epigenetic signatures in exons displaying cell type-specific splicing. Genome Biol (2015) 1.46

Genome-wide interrogation of longitudinal FEV1 in children with asthma. Am J Respir Crit Care Med (2014) 1.44

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nat Genet (2017) 1.44

Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery. Genome Biol (2016) 1.43

Novel genetic predictors of venous thromboembolism risk in African Americans. Blood (2016) 1.43

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. J Exp Med (2014) 1.41

Integrated multiomics approach identifies calcium and integrin-binding protein-2 as a novel gene for pulse wave velocity. J Hypertens (2016) 1.41

Loss of Cardio-Protective Effects at the ADAMTS7 Locus Due to Gene-Smoking Interactions. Circulation (2017) 1.41

Alpha-2 macroglobulin in Alzheimer's disease: a marker of neuronal injury through the RCAN1 pathway. Mol Psychiatry (2016) 1.40

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet (2014) 1.36

Systematic pan-cancer analysis of tumour purity. Nat Commun (2015) 1.35

Host genetic variation impacts microbiome composition across human body sites. Genome Biol (2015) 1.32

GPA: a statistical approach to prioritizing GWAS results by integrating pleiotropy and annotation. PLoS Genet (2014) 1.29

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project. Biopreserv Biobank (2015) 1.28

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun (2015) 1.27

Beyond modules and hubs: the potential of gene coexpression networks for investigating molecular mechanisms of complex brain disorders. Genes Brain Behav (2013) 1.25

Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors. Am J Hum Genet (2016) 1.23

Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism. Am J Hum Genet (2015) 1.23

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nat Genet (2015) 1.23

Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage. Am J Hum Genet (2014) 1.20

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. Nat Genet (2016) 1.20

Genome-wide significant loci: how important are they? Systems genetics to understand heritability of coronary artery disease and other common complex disorders. J Am Coll Cardiol (2015) 1.19

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. Nat Commun (2014) 1.18

A Compendium of Chromatin Contact Maps Reveals Spatially Active Regions in the Human Genome. Cell Rep (2016) 1.18

Whole-genome sequence-based analysis of thyroid function. Nat Commun (2015) 1.16

Unifying immunology with informatics and multiscale biology. Nat Immunol (2014) 1.15

Family decision maker perspectives on the return of genetic results in biobanking research. Genet Med (2015) 1.15

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders. Nat Rev Genet (2015) 1.14

MYB-QKI rearrangements in angiocentric glioma drive tumorigenicity through a tripartite mechanism. Nat Genet (2016) 1.13

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife (2015) 1.12

SNiPA: an interactive, genetic variant-centered annotation browser. Bioinformatics (2014) 1.12

rSNPBase: a database for curated regulatory SNPs. Nucleic Acids Res (2013) 1.11

Role of non-coding sequence variants in cancer. Nat Rev Genet (2016) 1.10

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nat Genet (2016) 1.08

Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite. Nat Genet (2015) 1.08

Large-Scale trans-eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation. Am J Hum Genet (2017) 1.08

Expression QTL-based analyses reveal candidate causal genes and loci across five tumor types. Hum Mol Genet (2014) 1.08

Genome-wide association analysis identifies six new loci associated with forced vital capacity. Nat Genet (2014) 1.07

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. Acta Neuropathol (2014) 1.07

Stress and Bronchodilator Response in Children with Asthma. Am J Respir Crit Care Med (2015) 1.06

Extending reference assembly models. Genome Biol (2015) 1.06

Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs. BMC Genomics (2014) 1.06

Two susceptibility loci identified for prostate cancer aggressiveness. Nat Commun (2015) 1.06

A human-specific AS3MT isoform and BORCS7 are molecular risk factors in the 10q24.32 schizophrenia-associated locus. Nat Med (2016) 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

Quantification of private information leakage from phenotype-genotype data: linking attacks. Nat Methods (2016) 1.05

Lean Big Data integration in systems biology and systems pharmacology. Trends Pharmacol Sci (2014) 1.05

Genetic conflict reflected in tissue-specific maps of genomic imprinting in human and mouse. Nat Genet (2015) 1.04

World Endometriosis Research Foundation Endometriosis Phenome and Biobanking Harmonisation Project: IV. Tissue collection, processing, and storage in endometriosis research. Fertil Steril (2014) 1.03

Analysis of long non-coding RNAs highlights tissue-specific expression patterns and epigenetic profiles in normal and psoriatic skin. Genome Biol (2015) 1.03

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. Nat Genet (2016) 1.03

GWAS identifies four novel eosinophilic esophagitis loci. Nat Commun (2014) 1.02

Refining susceptibility loci of chronic obstructive pulmonary disease with lung eqtls. PLoS One (2013) 1.02

Recovering power in association mapping panels with variable levels of linkage disequilibrium. Genetics (2014) 1.02

Genomics of alternative splicing: evolution, development and pathophysiology. Hum Genet (2014) 1.01

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation. Nat Commun (2015) 1.01

Cross-population joint analysis of eQTLs: fine mapping and functional annotation. PLoS Genet (2015) 1.00

Derivation and differentiation of haploid human embryonic stem cells. Nature (2016) 1.00

National Cancer Institute Biospecimen Evidence-Based Practices: a novel approach to pre-analytical standardization. Biopreserv Biobank (2014) 0.99

Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. Neurology (2015) 0.98

Cloning and expression of porcine β1,4 N-acetylgalactosaminyl transferase encoding a new xenoreactive antigen. Xenotransplantation (2014) 0.98

Grasping nettles: cellular heterogeneity and other confounders in epigenome-wide association studies. Hum Mol Genet (2014) 0.97

Genetic architecture of colorectal cancer. Gut (2015) 0.97

Normalizing RNA-sequencing data by modeling hidden covariates with prior knowledge. PLoS One (2013) 0.97

The genomic landscape of polymorphic human nuclear mitochondrial insertions. Nucleic Acids Res (2014) 0.97

A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach. PLoS Genet (2014) 0.96

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules. Am J Hum Genet (2016) 0.96

Molecular pathways: aspirin and Wnt signaling-a molecularly targeted approach to cancer prevention and treatment. Clin Cancer Res (2014) 0.96

Emerging directions in the genetics of atrial fibrillation. Circ Res (2014) 0.96

RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts. Genome Res (2015) 0.95

The harmonizome: a collection of processed datasets gathered to serve and mine knowledge about genes and proteins. Database (Oxford) (2016) 0.95

Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. Arthritis Rheumatol (2015) 0.95

Analytical tools and current challenges in the modern era of neuroepigenomics. Nat Neurosci (2014) 0.94

Chemotherapy-induced peripheral neurotoxicity and ototoxicity: new paradigms for translational genomics. J Natl Cancer Inst (2014) 0.94

Assessing allele-specific expression across multiple tissues from RNA-seq read data. Bioinformatics (2015) 0.94

Genetic studies of Crohn's disease: past, present and future. Best Pract Res Clin Gastroenterol (2014) 0.94

Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait. Am J Hum Genet (2014) 0.94

Dissecting the causal genetic mechanisms of coronary heart disease. Curr Atheroscler Rep (2014) 0.93

Genome sequence-independent identification of RNA editing sites. Nat Methods (2015) 0.93

An integrated encyclopedia of DNA elements in the human genome. Nature (2012) 64.73

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A (2009) 54.68

Population genomics of human gene expression. Nat Genet (2007) 24.49

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

Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature (2010) 16.86

Genetic mapping in human disease. Science (2008) 15.12

The NIH Roadmap Epigenomics Mapping Consortium. Nat Biotechnol (2010) 13.99

Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet (2012) 6.97

Revealing the architecture of gene regulation: the promise of eQTL studies. Trends Genet (2008) 5.78

Liver and adipose expression associated SNPs are enriched for association to type 2 diabetes. PLoS Genet (2010) 3.75

Noisy splicing drives mRNA isoform diversity in human cells. PLoS Genet (2010) 3.19

A new statistic and its power to infer membership in a genome-wide association study using genotype frequencies. Nat Genet (2009) 3.06

Bayesian method to predict individual SNP genotypes from gene expression data. Nat Genet (2012) 2.50

New insights into the genetic control of gene expression using a Bayesian multi-tissue approach. PLoS Comput Biol (2010) 2.43

Obesity and genetics regulate microRNAs in islets, liver, and adipose of diabetic mice. Mamm Genome (2009) 1.87

Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts. Genome Res (2010) 1.67

Assessing and managing risk when sharing aggregate genetic variant data. Nat Rev Genet (2011) 1.62