Published in Nat Genet on September 01, 2004
Different levels of alternative splicing among eukaryotes. Nucleic Acids Res (2006) 3.07
Evaluating gene expression in C57BL/6J and DBA/2J mouse striatum using RNA-Seq and microarrays. PLoS One (2011) 3.01
Evidence of functional selection pressure for alternative splicing events that accelerate evolution of protein subsequences. Proc Natl Acad Sci U S A (2005) 1.88
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A general definition and nomenclature for alternative splicing events. PLoS Comput Biol (2008) 1.72
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Characterization of intron loss events in mammals. Genome Res (2006) 1.56
Evolution of alternative splicing after gene duplication. Genome Res (2005) 1.55
Evidence for variation in abundance of antisense transcripts between multicellular animals but no relationship between antisense transcriptionand organismic complexity. Genome Res (2006) 1.35
Quality control of mRNP in the nucleus. Chromosoma (2008) 1.34
Functional and evolutionary analysis of alternatively spliced genes is consistent with an early eukaryotic origin of alternative splicing. BMC Evol Biol (2007) 1.30
Comparative cross-species alternative splicing in plants. Plant Physiol (2007) 1.21
Genome-wide review of transcriptional complexity in mouse protein kinases and phosphatases. Genome Biol (2006) 1.13
Alternative splicing and protein function. BMC Bioinformatics (2005) 1.11
Transcript-specific expression profiles derived from sequence-based analysis of standard microarrays. PLoS One (2009) 1.07
The origins, evolution, and functional potential of alternative splicing in vertebrates. Mol Biol Evol (2011) 1.05
Signal-regulated Pre-mRNA occupancy by the general splicing factor U2AF. PLoS One (2008) 1.02
Correcting for differential transcript coverage reveals a strong relationship between alternative splicing and organism complexity. Mol Biol Evol (2014) 1.00
Unconstrained mining of transcript data reveals increased alternative splicing complexity in the human transcriptome. Nucleic Acids Res (2010) 0.97
The adaptive significance of unproductive alternative splicing in primates. RNA (2010) 0.93
Editing efficiency of a Drosophila gene correlates with a distant splice site selection. RNA (2005) 0.92
Enhanced microarray performance using low complexity representations of the transcriptome. Nucleic Acids Res (2005) 0.90
Support vector machines-based identification of alternative splicing in Arabidopsis thaliana from whole-genome tiling arrays. BMC Bioinformatics (2011) 0.86
Phosphatidylinositol 4-phosphate 5-kinase Iγ_v6, a new splice variant found in rodents and humans. Biochem Biophys Res Commun (2011) 0.84
Deep sequencing-based transcriptome analysis of chicken spleen in response to avian pathogenic Escherichia coli (APEC) infection. PLoS One (2012) 0.83
Alternative splicing of transcription factors' genes: beyond the increase of proteome diversity. Comp Funct Genomics (2009) 0.80
Computational detection of alternative exon usage. Front Neurosci (2011) 0.80
Complexity of bidirectional transcription and alternative splicing at human RCAN3 locus. PLoS One (2011) 0.78
MECHANISMS IN ENDOCRINOLOGY: Alternative splicing: the new frontier in diabetes research. Eur J Endocrinol (2015) 0.78
A generative bias towards average complexity in artificial cell lineages. Proc Biol Sci (2007) 0.76
A house finch (Haemorhous mexicanus) spleen transcriptome reveals intra- and interspecific patterns of gene expression, alternative splicing and genetic diversity in passerines. BMC Genomics (2014) 0.76
The relationship between gene isoform multiplicity, number of exons and protein divergence. PLoS One (2013) 0.75
Alternative splicing: a paradoxical qudo in eukaryotic genomes. Bioinformation (2007) 0.75
Similar ratios of introns to intergenic sequence across animal genomes. Genome Biol Evol (2017) 0.75
Alternative splicing and genome complexity. Nat Genet (2001) 7.30
Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10
Interaction between the serotonin transporter gene (5-HTTLPR), stressful life events, and risk of depression: a meta-analysis. JAMA (2009) 12.35
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
Analyses of pig genomes provide insight into porcine demography and evolution. Nature (2012) 5.58
Multi-platform next-generation sequencing of the domestic turkey (Meleagris gallopavo): genome assembly and analysis. PLoS Biol (2010) 5.39
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
Mathematical multi-locus approaches to localizing complex human trait genes. Nat Rev Genet (2003) 4.18
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet (2005) 4.13
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathol (2012) 4.00
A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet (2003) 3.52
Distribution and characterization of regulatory elements in the human genome. Genome Res (2002) 3.34
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet (2005) 3.19
Age-related macular degeneration--a genome scan in extended families. Am J Hum Genet (2003) 2.99
Clonal selection drives genetic divergence of metastatic medulloblastoma. Nature (2012) 2.96
CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. Ophthalmology (2008) 2.90
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
CpG island methylator phenotype associates with low-degree chromosomal abnormalities in colorectal cancer. Clin Cancer Res (2008) 2.65
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
Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia. Nat Genet (2012) 2.26
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations. Acta Neuropathol (2012) 2.17
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell (2003) 2.06
Genomic analysis defines a cancer-specific gene expression signature for human squamous cell carcinoma and distinguishes malignant hyperproliferation from benign hyperplasia. J Invest Dermatol (2006) 2.01
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
Pneumonia case-finding in the RESPIRE Guatemala indoor air pollution trial: standardizing methods for resource-poor settings. Bull World Health Organ (2007) 1.90
Association of genetic loci: replication or not, that is the question. Neurology (2004) 1.84
Effect of polymorphisms within probe-target sequences on olignonucleotide microarray experiments. Nucleic Acids Res (2008) 1.80
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
Multiple urban and asthma-related risks and their association with asthma morbidity in children. J Pediatr Psychol (2007) 1.69
Sum statistics for the joint detection of multiple disease loci in case-control association studies with SNP markers. Genet Epidemiol (2003) 1.69
Nucleotide frequency variation across human genes. Genome Res (2003) 1.68
Increased attributable risk related to a functional mu-opioid receptor gene polymorphism in association with alcohol dependence in central Sweden. Neuropsychopharmacology (2005) 1.66
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
RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Genome Res (2010) 1.58
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
Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata. Am J Hum Genet (2007) 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
Joint identification of multiple genetic variants via elastic-net variable selection in a genome-wide association analysis. Ann Hum Genet (2010) 1.51
Schizophrenia and oxidative stress: glutamate cysteine ligase modifier as a susceptibility gene. Am J Hum Genet (2006) 1.50
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat (2012) 1.50
Sorghum stay-green QTL individually reduce post-flowering drought-induced leaf senescence. J Exp Bot (2006) 1.47
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
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
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthalmol Vis Sci (2005) 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
Coordinated international action to accelerate genome-to-phenome with FAANG, the Functional Annotation of Animal Genomes project. Genome Biol (2015) 1.40
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet (2012) 1.39
Variation in asthma beliefs and practices among mainland Puerto Ricans, Mexican-Americans, Mexicans, and Guatemalans. J Asthma (2002) 1.38
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
Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. Arch Ophthalmol (2007) 1.37
Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR. Hum Genet (2005) 1.37
Associations of six single nucleotide polymorphisms in obesity-related genes with BMI and risk of obesity in Chinese children. Diabetes (2010) 1.33
Intron loss and gain in Drosophila. Mol Biol Evol (2007) 1.33
ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence. Hum Mol Genet (2008) 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
The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered (2007) 1.30
Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Ophthalmology (2007) 1.30
Ubiquitous polygenicity of human complex traits: genome-wide analysis of 49 traits in Koreans. PLoS Genet (2013) 1.29
Evidence for codon bias selection at the pre-mRNA level in eukaryotes. Trends Genet (2004) 1.28
Efficiency of single-nucleotide polymorphism haplotype estimation from pooled DNA. Proc Natl Acad Sci U S A (2003) 1.27
KRAS mutation and microsatellite instability: two genetic markers of early tumor development that influence the prognosis of colorectal cancer. Ann Surg Oncol (2009) 1.26
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet (2012) 1.26
West Nile virus in horses, Guatemala. Emerg Infect Dis (2006) 1.25
Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat (2014) 1.25
Association of the Taq I allele in vitamin D receptor with degenerative disc disease and disc bulge in a Chinese population. Spine (Phila Pa 1976) (2006) 1.24
Increased OPRM1 DNA methylation in lymphocytes of methadone-maintained former heroin addicts. Neuropsychopharmacology (2008) 1.23
Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet (2012) 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
Prospective study of intravitreal ranibizumab as a treatment for decreased visual acuity secondary to central retinal vein occlusion. Am J Ophthalmol (2008) 1.20
Rhesus monkeys and humans share common susceptibility genes for age-related macular disease. Hum Mol Genet (2008) 1.20
A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23. Nat Genet (2013) 1.19
The Sam68 STAR RNA-binding protein regulates mTOR alternative splicing during adipogenesis. Mol Cell (2012) 1.19
Progression of geographic atrophy and genotype in age-related macular degeneration. Ophthalmology (2010) 1.18
RNA editing of protein sequences: a rare event in human transcriptomes. RNA (2012) 1.18
Angiotensinogen gene polymorphism at -217 affects basal promoter activity and is associated with hypertension in African-Americans. J Biol Chem (2002) 1.18
Collapsing SNP genotypes in case-control genome-wide association studies increases the type I error rate and power. Stat Appl Genet Mol Biol (2008) 1.17
FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data. Bioinformatics (2013) 1.16
Alzheimer disease pathology in cognitively healthy elderly: a genome-wide study. Neurobiol Aging (2010) 1.16
Redefinition of the human kappa opioid receptor gene (OPRK1) structure and association of haplotypes with opiate addiction. Pharmacogenetics (2004) 1.16
Within- and between-day variability of respiratory impedance, using impulse oscillometry in adolescent asthmatics. Pediatr Pulmonol (2002) 1.15
Polyadenylation-dependent control of long noncoding RNA expression by the poly(A)-binding protein nuclear 1. PLoS Genet (2012) 1.15