Published in Nucleic Acids Res on July 02, 2008
Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet (2013) 7.13
A re-annotation pipeline for Illumina BeadArrays: improving the interpretation of gene expression data. Nucleic Acids Res (2009) 3.50
Additional annotation enhances potential for biologically-relevant analysis of the Illumina Infinium HumanMethylation450 BeadChip array. Epigenetics Chromatin (2013) 2.93
High resolution mapping of expression QTLs in heterogeneous stock mice in multiple tissues. Genome Res (2009) 1.83
Gene expression and isoform variation analysis using Affymetrix Exon Arrays. BMC Genomics (2008) 1.76
Tissue effect on genetic control of transcript isoform variation. PLoS Genet (2009) 1.59
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Hum Mol Genet (2012) 1.58
RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Genome Res (2010) 1.58
Modeling host genetic regulation of influenza pathogenesis in the collaborative cross. PLoS Pathog (2013) 1.43
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
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol (2010) 1.36
Fine-scale variation and genetic determinants of alternative splicing across individuals. PLoS Genet (2009) 1.32
Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants. PLoS One (2014) 1.27
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies. Nucleic Acids Res (2013) 1.25
Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies. Genome Biol (2014) 1.12
GLiMMPS: robust statistical model for regulatory variation of alternative splicing using RNA-seq data. Genome Biol (2013) 1.11
Complex control of GABA(A) receptor subunit mRNA expression: variation, covariation, and genetic regulation. PLoS One (2012) 1.04
Use of cell lines in the investigation of pharmacogenetic loci. Curr Pharm Des (2009) 0.93
AnyExpress: integrated toolkit for analysis of cross-platform gene expression data using a fast interval matching algorithm. BMC Bioinformatics (2011) 0.93
Alternatively Spliced Genes as Biomarkers for Schizophrenia, Bipolar Disorder and Psychosis: A Blood-Based Spliceome-Profiling Exploratory Study. Curr Pharmacogenomics Person Med (2009) 0.92
Comprehensive survey of SNPs in the Affymetrix exon array using the 1000 Genomes dataset. PLoS One (2010) 0.92
Genetic dissection of the Drosophila melanogaster female head transcriptome reveals widespread allelic heterogeneity. PLoS Genet (2014) 0.91
A small system--high-resolution study of metabolic adaptation in the central metabolic pathway to temperate climates in Drosophila melanogaster. Mol Biol Evol (2014) 0.90
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet (2012) 0.90
Protein database and quantitative analysis considerations when integrating genetics and proteomics to compare mouse strains. J Proteome Res (2011) 0.88
Alternative splicing and transcriptome profiling of experimental autoimmune encephalomyelitis using genome-wide exon arrays. PLoS One (2009) 0.88
Comparative functional genomics and the bovine macrophage response to strains of the mycobacterium genus. Front Immunol (2014) 0.87
Natural genetic variation impacts expression levels of coding, non-coding, and antisense transcripts in fission yeast. Mol Syst Biol (2014) 0.83
An integrative functional genomics approach for discovering biomarkers in schizophrenia. Brief Funct Genomics (2011) 0.83
Calling sample mix-ups in cancer population studies. PLoS One (2012) 0.83
Characterization of the macrophage transcriptome in glomerulonephritis-susceptible and -resistant rat strains. Genes Immun (2010) 0.83
Genetic variation of pre-mRNA alternative splicing in human populations. Wiley Interdiscip Rev RNA (2011) 0.82
Development and evaluation of new mask protocols for gene expression profiling in humans and chimpanzees. BMC Bioinformatics (2009) 0.82
Integrative genomics and transcriptomics analysis of human embryonic and induced pluripotent stem cells. BioData Min (2014) 0.81
Variation in Drosophila melanogaster central metabolic genes appears driven by natural selection both within and between populations. Proc Biol Sci (2015) 0.81
Decreased expression of B cell related genes in leukocytes of women with Parkinson's disease. Mol Neurodegener (2011) 0.81
Global Expression Patterns of Three Festuca Species Exposed to Different Doses of Glyphosate Using the Affymetrix GeneChip Wheat Genome Array. Comp Funct Genomics (2010) 0.80
The comparison of different pre- and post-analysis filters for determination of exon-level alternative splicing events using Affymetrix arrays. J Biomol Tech (2010) 0.79
Flexible and efficient genome tiling design with penalized uniqueness score. BMC Bioinformatics (2012) 0.75
PositionMatcher: A Fast Custom-Annotation Tool for Short DNA Sequences. AMIA Jt Summits Transl Sci Proc (2010) 0.75
Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance. J Thromb Haemost (2016) 0.75
The use of haplotype-specific transcripts improves sample annotation consistency. Biomark Res (2014) 0.75
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
A haplotype map of the human genome. Nature (2005) 105.70
Empirical threshold values for quantitative trait mapping. Genetics (1994) 46.95
Genetic analysis of genome-wide variation in human gene expression. Nature (2004) 27.28
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
A genome-wide association study of global gene expression. Nat Genet (2007) 22.98
Controlling the false discovery rate in behavior genetics research. Behav Brain Res (2001) 21.82
Genetics of gene expression and its effect on disease. Nature (2008) 21.35
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
Expression profiling using microarrays fabricated by an ink-jet oligonucleotide synthesizer. Nat Biotechnol (2001) 14.57
Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes. Nat Genet (2007) 11.09
Genome-wide analysis of transcript isoform variation in humans. Nat Genet (2008) 6.70
Cis-acting expression quantitative trait loci in mice. Genome Res (2005) 6.66
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res (2006) 5.97
Alternative splicing and differential gene expression in colon cancer detected by a whole genome exon array. BMC Genomics (2006) 5.59
Evaluation of genetic variation contributing to differences in gene expression between populations. Am J Hum Genet (2008) 4.01
Sequence polymorphisms cause many false cis eQTLs. PLoS One (2007) 3.54
Heritability of alternative splicing in the human genome. Genome Res (2007) 2.76
SNPs matter: impact on detection of differential expression. Nat Methods (2007) 2.35
Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis. Mol Cell Proteomics (2008) 2.24
Guidelines for incorporating non-perfectly matched oligonucleotides into target-specific hybridization probes for a DNA microarray. Nucleic Acids Res (2004) 2.20
Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes. Hum Mol Genet (2005) 1.96
Free energy of DNA duplex formation on short oligonucleotide microarrays. Nucleic Acids Res (2006) 1.68
SNPs on chips: the hidden genetic code in expression arrays. Biol Psychiatry (2006) 1.36
Cross-species hybridizations on a multi-species cDNA microarray to identify evolutionarily conserved genes expressed in oocytes. BMC Genomics (2006) 1.03
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature (2012) 10.99
Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. Cancer Cell (2012) 6.71
Genome-wide analysis of transcript isoform variation in humans. Nat Genet (2008) 6.70
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet (2012) 5.48
Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nat Genet (2009) 4.72
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
Antimicrobial drug discovery through bacteriophage genomics. Nat Biotechnol (2004) 4.17
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathol (2012) 4.00
Targeted screening of cis-regulatory variation in human haplotypes. Genome Res (2008) 3.10
Clonal selection drives genetic divergence of metastatic medulloblastoma. Nature (2012) 2.96
Heritability of alternative splicing in the human genome. Genome Res (2007) 2.76
Comment on "Widespread RNA and DNA sequence differences in the human transcriptome". Science (2012) 2.66
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
A probabilistic approach for SNP discovery in high-throughput human resequencing data. Genome Res (2009) 2.55
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet (2013) 2.42
Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet (2005) 2.34
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
The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts. Genome Biol (2014) 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
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
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
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
Tissue effect on genetic control of transcript isoform variation. PLoS Genet (2009) 1.59
Assessment of gene-by-sex interaction effect on bone mineral density. J Bone Miner Res (2012) 1.58
RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Genome Res (2010) 1.58
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
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
Global analysis of the impact of environmental perturbation on cis-regulation of gene expression. PLoS Genet (2011) 1.51
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat (2012) 1.50
Effects of catheter ablation of idiopathic ventricular ectopic beats on left ventricular function and exercise capacity. Kardiol Pol (2009) 1.45
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. J Med Genet (2013) 1.44
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthalmol Vis Sci (2005) 1.44
Surgical ablation for atrial fibrillation using the Ex-Maze III procedure on the beating heart in patients undergoing mitral valve surgery. Kardiol Pol (2011) 1.44
Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet (2013) 1.43
Factors predisposing to ventricular tachyarrhythmia leading to appropriate ICD intervention in patients with coronary artery disease or non-ischaemic dilated cardiomyopathy. Kardiol Pol (2012) 1.42
Effect of selected prothrombotic and proinflammatory factors on the incidence of venous thrombosis after pacemaker implantation. Kardiol Pol (2012) 1.42
Association between selected risk factors and the incidence of venous obstruction after pacemaker implantation: demographic and clinical factors. Kardiol Pol (2011) 1.41
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet (2012) 1.39
Predictors of sinus rhythm return during defibrillation testing in patients with permanent atrial fibrillation undergoing implantation of a cardioverter-defibrillator. Kardiol Pol (2011) 1.38
Intron loss and gain in Drosophila. Mol Biol Evol (2007) 1.33
Fine-scale variation and genetic determinants of alternative splicing across individuals. PLoS Genet (2009) 1.32
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet (2012) 1.32
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet (2012) 1.32
Evidence for codon bias selection at the pre-mRNA level in eukaryotes. Trends Genet (2004) 1.28
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet (2012) 1.26
Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat (2014) 1.25
Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet (2012) 1.23
Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia. Proc Natl Acad Sci U S A (2009) 1.23
Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients. J Med Genet (2013) 1.21
The Sam68 STAR RNA-binding protein regulates mTOR alternative splicing during adipogenesis. Mol Cell (2012) 1.19
RNA editing of protein sequences: a rare event in human transcriptomes. RNA (2012) 1.18
FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data. Bioinformatics (2013) 1.16
Polyadenylation-dependent control of long noncoding RNA expression by the poly(A)-binding protein nuclear 1. PLoS Genet (2012) 1.15
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. Am J Hum Genet (2002) 1.14
No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour. J Pathol (2014) 1.12
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Hum Genet (2015) 1.06
Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome. Am J Hum Genet (2010) 1.06
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency. Orphanet J Rare Dis (2012) 1.05
Heart perforation in patients with permanent cardiac pacing - pilot personal observations. Arch Med Sci (2012) 1.05
Complex percutaneous extraction of a 15-year-old atrial lead dislodged into the subclavian vein. Arch Med Sci (2011) 1.04
ARHGDIA: a novel gene implicated in nephrotic syndrome. J Med Genet (2013) 1.01
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet (2006) 1.01
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. J Allergy Clin Immunol (2013) 1.00
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. Am J Med Genet A (2014) 1.00
Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration. Arch Ophthalmol (2003) 0.99
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. Am J Hum Genet (2012) 0.99
Interaction between genetic and epigenetic variation defines gene expression patterns at the asthma-associated locus 17q12-q21 in lymphoblastoid cell lines. Hum Genet (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
Alternative splicing is frequent during early embryonic development in mouse. BMC Genomics (2010) 0.95
Anaesthesia in children with osteogenesis imperfecta - report of 14 general anaesthetics in three children. Anaesthesiol Intensive Ther (2013) 0.95
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. J Med Genet (2011) 0.94
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. Kidney Int (2005) 0.94
Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines. BMC Med Genomics (2011) 0.94
Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms. BMC Genomics (2006) 0.93
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet (2013) 0.93
Selective constraints in experimentally defined primate regulatory regions. PLoS Genet (2008) 0.92
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. J Med Genet (2011) 0.92
HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective. Ophthalmic Genet (2005) 0.91
Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics. J Bone Miner Res (2014) 0.90
Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient. BMC Cancer (2013) 0.89
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease. BMC Med Genet (2014) 0.89
Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again. J Pathol (2013) 0.88
Exon-level transcriptome profiling in murine breast cancer reveals splicing changes specific to tumors with different metastatic abilities. PLoS One (2010) 0.87
Neuropathologic features of pontocerebellar hypoplasia type 6. J Neuropathol Exp Neurol (2014) 0.87
A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood. J Chromatogr B Analyt Technol Biomed Life Sci (2013) 0.86
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. Am J Ophthalmol (2013) 0.86
Inhibition of transcription in Staphylococcus aureus by a primary sigma factor-binding polypeptide from phage G1. J Bacteriol (2009) 0.85