Published in Nat Genet on January 13, 2008
Alternative isoform regulation in human tissue transcriptomes. Nature (2008) 52.76
MapSplice: accurate mapping of RNA-seq reads for splice junction discovery. Nucleic Acids Res (2010) 9.80
High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet (2008) 9.68
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet (2010) 8.74
RNA and disease. Cell (2009) 7.98
Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. Lancet (2008) 7.05
Revealing the architecture of gene regulation: the promise of eQTL studies. Trends Genet (2008) 5.78
The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nat Genet (2009) 5.65
Tissue-specific genetic control of splicing: implications for the study of complex traits. PLoS Biol (2008) 5.08
Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nat Genet (2009) 4.72
Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell lines. Nat Genet (2008) 3.78
Noisy splicing drives mRNA isoform diversity in human cells. PLoS Genet (2010) 3.19
Targeted screening of cis-regulatory variation in human haplotypes. Genome Res (2008) 3.10
Transcriptome survey reveals increased complexity of the alternative splicing landscape in Arabidopsis. Genome Res (2012) 3.10
What would you do if you could sequence everything? Nat Biotechnol (2008) 2.89
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals. Genome Res (2013) 2.77
Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. PLoS Genet (2011) 2.68
Differential genome-wide profiling of tandem 3' UTRs among human breast cancer and normal cells by high-throughput sequencing. Genome Res (2011) 2.61
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
Dissecting the regulatory architecture of gene expression QTLs. Genome Biol (2012) 2.51
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
Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation. PLoS Genet (2010) 2.14
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12
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
Identification of common genetic variants that account for transcript isoform variation between human populations. Hum Genet (2008) 1.96
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature (2014) 1.88
Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. Heart Rhythm (2011) 1.85
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. PLoS Genet (2012) 1.84
High resolution mapping of expression QTLs in heterogeneous stock mice in multiple tissues. Genome Res (2009) 1.83
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
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing. PLoS Genet (2015) 1.78
Gene expression and isoform variation analysis using Affymetrix Exon Arrays. BMC Genomics (2008) 1.76
Inference of isoforms from short sequence reads. J Comput Biol (2011) 1.72
Global changes in processing of mRNA 3' untranslated regions characterize clinically distinct cancer subtypes. Cancer Res (2009) 1.70
Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genet (2012) 1.68
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
Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes. Proc Natl Acad Sci U S A (2011) 1.64
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
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. Proc Natl Acad Sci U S A (2009) 1.56
Global analysis of the impact of environmental perturbation on cis-regulation of gene expression. PLoS Genet (2011) 1.51
Gene expression drives local adaptation in humans. Genome Res (2013) 1.50
Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. Am J Hum Genet (2014) 1.47
Genomic features defining exonic variants that modulate splicing. Genome Biol (2010) 1.46
FDM: a graph-based statistical method to detect differential transcription using RNA-seq data. Bioinformatics (2011) 1.41
Relationship between CAD risk genotype in the chromosome 9p21 locus and gene expression. Identification of eight new ANRIL splice variants. PLoS One (2009) 1.37
Genetic architecture of regulatory variation in Arabidopsis thaliana. Genome Res (2011) 1.32
Fine-scale variation and genetic determinants of alternative splicing across individuals. PLoS Genet (2009) 1.32
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. Nat Commun (2014) 1.28
DiffSplice: the genome-wide detection of differential splicing events with RNA-seq. Nucleic Acids Res (2012) 1.28
Loci influencing blood pressure identified using a cardiovascular gene-centric array. Hum Mol Genet (2013) 1.27
Sporadic ALS has compartment-specific aberrant exon splicing and altered cell-matrix adhesion biology. Hum Mol Genet (2009) 1.27
Variants affecting exon skipping contribute to complex traits. PLoS Genet (2012) 1.24
Discovery and mass spectrometric analysis of novel splice-junction peptides using RNA-Seq. Mol Cell Proteomics (2013) 1.20
Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis. PLoS One (2012) 1.19
The use of genome-wide eQTL associations in lymphoblastoid cell lines to identify novel genetic pathways involved in complex traits. PLoS One (2011) 1.18
Identification of allele-specific alternative mRNA processing via transcriptome sequencing. Nucleic Acids Res (2012) 1.16
Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes. Hum Genomics (2010) 1.16
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function. Hum Mol Genet (2012) 1.14
Overestimation of alternative splicing caused by variable probe characteristics in exon arrays. Nucleic Acids Res (2009) 1.13
Global genetic robustness of the alternative splicing machinery in Caenorhabditis elegans. Genetics (2010) 1.13
FstSNP-HapMap3: a database of SNPs with high population differentiation for HapMap3. Bioinformation (2008) 1.12
The human Major Histocompatibility Complex as a paradigm in genomics research. Brief Funct Genomic Proteomic (2009) 1.11
GLiMMPS: robust statistical model for regulatory variation of alternative splicing using RNA-seq data. Genome Biol (2013) 1.11
Detection, validation, and downstream analysis of allelic variation in gene expression. Genetics (2009) 1.10
Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'. Trends Genet (2014) 1.10
Characteristics of transposable element exonization within human and mouse. PLoS One (2010) 1.09
Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. Am J Clin Nutr (2013) 1.08
Identification of genetic variants associated with alternative splicing using sQTLseekeR. Nat Commun (2014) 1.08
Splicing programs and cancer. J Nucleic Acids (2011) 1.06
Genetic validation of whole-transcriptome sequencing for mapping expression affected by cis-regulatory variation. BMC Genomics (2010) 1.06
Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene. Hum Genomics (2010) 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
SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? Eur J Hum Genet (2010) 1.05
Global properties and functional complexity of human gene regulatory variation. PLoS Genet (2013) 1.02
Probe-level analysis of expression microarrays characterizes isoform-specific degradation during mouse oocyte maturation. PLoS One (2009) 1.01
Genomics of alternative splicing: evolution, development and pathophysiology. Hum Genet (2014) 1.01
Molecular diagnostics in transplantation. Nat Rev Nephrol (2010) 1.01
Comprehensive analysis of RNA-seq data reveals the complexity of the transcriptome in Brassica rapa. BMC Genomics (2013) 1.00
Genome-wide association of pericardial fat identifies a unique locus for ectopic fat. PLoS Genet (2012) 1.00
Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. Am J Hum Genet (2014) 0.99
Whole transcriptome RNA-Seq allelic expression in human brain. BMC Genomics (2013) 0.99
Evolution of alternative splicing in primate brain transcriptomes. Hum Mol Genet (2010) 0.99
Exon-specific QTLs skew the inferred distribution of expression QTLs detected using gene expression array data. PLoS One (2012) 0.98
Comparison of Affymetrix Gene Array with the Exon Array shows potential application for detection of transcript isoform variation. BMC Genomics (2009) 0.97
Integrating expression profiling and whole-genome association for dissection of fat traits in a porcine model. J Lipid Res (2011) 0.96
Gene expression profiles deciphering rice phenotypic variation between Nipponbare (Japonica) and 93-11 (Indica) during oxidative stress. PLoS One (2010) 0.96
Genetics and regulatory impact of alternative polyadenylation in human B-lymphoblastoid cells. PLoS Genet (2012) 0.96
Complement receptor 2 polymorphisms associated with systemic lupus erythematosus modulate alternative splicing. Genes Immun (2009) 0.96
Alternative splicing is frequent during early embryonic development in mouse. BMC Genomics (2010) 0.95
Genome-wide expression quantitative trait loci (eQTL) analysis in maize. BMC Genomics (2011) 0.94
Use of cell lines in the investigation of pharmacogenetic loci. Curr Pharm Des (2009) 0.93
Comprehensive survey of SNPs in the Affymetrix exon array using the 1000 Genomes dataset. PLoS One (2010) 0.92
All's well that ends well: alternative polyadenylation and its implications for stem cell biology. Curr Opin Cell Biol (2013) 0.91
To What Extent is Blood a Reasonable Surrogate for Brain in Gene Expression Studies: Estimation from Mouse Hippocampus and Spleen. Front Neurosci (2009) 0.91
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
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature (2007) 35.08
International network of cancer genome projects. Nature (2010) 20.35
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
A predominantly clonal multi-institutional outbreak of Clostridium difficile-associated diarrhea with high morbidity and mortality. N Engl J Med (2005) 16.59
Prepublication data sharing. Nature (2009) 12.24
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature (2012) 10.99
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24. Nat Genet (2007) 9.88
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature (2012) 8.31
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat Genet (2008) 6.97
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A (2003) 6.87
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet (2008) 6.75
Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Cancer Cell (2012) 6.71
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations. Nat Genet (2009) 6.39
A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics (2004) 4.99
Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nat Genet (2009) 4.72
Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray. Epigenetics (2013) 4.61
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
Control genes and variability: absence of ubiquitous reference transcripts in diverse mammalian expression studies. Genome Res (2002) 4.49
Cis-acting regulatory variation in the human genome. Science (2004) 4.47
Characterization of a common susceptibility locus for asthma-related traits. Science (2004) 4.05
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathol (2012) 4.00
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
Mapping common regulatory variants to human haplotypes. Hum Mol Genet (2005) 3.53
Characterization of variability in large-scale gene expression data: implications for study design. Genomics (2002) 3.42
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Targeted screening of cis-regulatory variation in human haplotypes. Genome Res (2008) 3.10
Susceptibility to leprosy is associated with PARK2 and PACRG. Nature (2004) 3.07
Clonal selection drives genetic divergence of metastatic medulloblastoma. Nature (2012) 2.96
Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet (2007) 2.94
Seventy-five genetic loci influencing the human red blood cell. Nature (2012) 2.77
Heritability of alternative splicing in the human genome. Genome Res (2007) 2.76
Common variants in the NLRP3 region contribute to Crohn's disease susceptibility. Nat Genet (2008) 2.67
Survey of allelic expression using EST mining. Genome Res (2005) 2.67
Comment on "Widespread RNA and DNA sequence differences in the human transcriptome". Science (2012) 2.66
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. Gastroenterology (2012) 2.57
Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). J Infect Dis (2009) 2.53
Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes (2004) 2.52
Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies. Int J Epidemiol (2010) 2.44
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet (2013) 2.42
Functional normalization of 450k methylation array data improves replication in large cancer studies. Genome Biol (2014) 2.37
Meta-analysis of new genome-wide association studies of colorectal cancer risk. Hum Genet (2011) 2.35
Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet (2005) 2.34
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
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum Mutat (2009) 2.34
A survey of genes differentially expressed in subcutaneous and visceral adipose tissue in men. Obes Res (2004) 2.33
Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet (2013) 2.32
Population genomics in a disease targeted primary cell model. Genome Res (2009) 2.20
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations. Acta Neuropathol (2012) 2.17
Influence of human genome polymorphism on gene expression. Hum Mol Genet (2006) 2.14
Association of vitamin D receptor genetic variants with susceptibility to asthma and atopy. Am J Respir Crit Care Med (2004) 2.08
TFCat: the curated catalog of mouse and human transcription factors. Genome Biol (2009) 2.06
A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis. Nat Genet (2005) 2.03
The genetic basis for cancer treatment decisions. Cell (2012) 2.03
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet (2012) 1.96
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Genetic variants associated with myocardial infarction risk factors in over 8000 individuals from five ethnic groups: The INTERHEART Genetics Study. Circ Cardiovasc Genet (2009) 1.83
Effect of polymorphisms within probe-target sequences on olignonucleotide microarray experiments. Nucleic Acids Res (2008) 1.80
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet (2009) 1.78
Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol. Am J Hum Genet (2007) 1.77
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. Hum Mutat (2010) 1.76
Gene expression and isoform variation analysis using Affymetrix Exon Arrays. BMC Genomics (2008) 1.76
1alpha,25-dihydroxy-vitamin D3 stimulation of bronchial smooth muscle cells induces autocrine, contractility, and remodeling processes. Physiol Genomics (2007) 1.73
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
Cancer genomics: technology, discovery, and translation. J Clin Oncol (2012) 1.70
Nucleotide frequency variation across human genes. Genome Res (2003) 1.68
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63
The growth factor midkine is modulated by both glucocorticoid and retinoid in fetal lung development. Am J Respir Cell Mol Biol (2003) 1.62
A Pan-BCL2 inhibitor renders bone-marrow-resident human leukemia stem cells sensitive to tyrosine kinase inhibition. Cell Stem Cell (2013) 1.59
Correction of population stratification in large multi-ethnic association studies. PLoS One (2008) 1.59
Tissue effect on genetic control of transcript isoform variation. PLoS Genet (2009) 1.59
Characterization of gene-environment interactions for colorectal cancer susceptibility loci. Cancer Res (2012) 1.58
RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Genome Res (2010) 1.58
Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03). J Infect Dis (2009) 1.57
Estimating rates of alternative splicing in mammals and invertebrates. Nat Genet (2004) 1.57
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
Characterization of intron loss events in mammals. Genome Res (2006) 1.56
A genome-wide approach to identifying novel-imprinted genes. Hum Genet (2007) 1.55
Genome-wide scan for linkage to obesity-associated hypertension in French Canadians. Hypertension (2005) 1.55
Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas. Acta Neuropathol (2013) 1.54
Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density. Bone (2013) 1.52