Published in Genes Dev on May 14, 2004
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res (2009) 10.08
Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. RNA (2008) 6.29
Deciphering the splicing code. Nature (2010) 6.27
Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. Genome Res (2008) 3.33
Noisy splicing drives mRNA isoform diversity in human cells. PLoS Genet (2010) 3.19
Discovery and analysis of evolutionarily conserved intronic splicing regulatory elements. PLoS Genet (2007) 2.60
A combinatorial code for splicing silencing: UAGG and GGGG motifs. PLoS Biol (2005) 2.48
Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol (2006) 2.41
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet (2005) 2.29
HnRNP L represses exon splicing via a regulated exonic splicing silencer. EMBO J (2005) 2.20
The splicing regulatory element, UGCAUG, is phylogenetically and spatially conserved in introns that flank tissue-specific alternative exons. Nucleic Acids Res (2005) 2.20
Context-dependent control of alternative splicing by RNA-binding proteins. Nat Rev Genet (2014) 2.17
Understanding splicing regulation through RNA splicing maps. Trends Genet (2011) 2.12
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci U S A (2005) 2.12
Exon inclusion is dependent on predictable exonic splicing enhancers. Mol Cell Biol (2005) 2.02
Identification of common genetic variation that modulates alternative splicing. PLoS Genet (2007) 1.96
Pre-mRNA secondary structures influence exon recognition. PLoS Genet (2007) 1.92
Dynamic regulation of alternative splicing by silencers that modulate 5' splice site competition. Cell (2008) 1.91
Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res (2006) 1.89
Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol (2012) 1.82
Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications. RNA (2007) 1.78
Prediction and assessment of splicing alterations: implications for clinical testing. Hum Mutat (2008) 1.73
Alternative splicing of RNA triplets is often regulated and accelerates proteome evolution. PLoS Biol (2012) 1.71
Inference of splicing regulatory activities by sequence neighborhood analysis. PLoS Genet (2006) 1.71
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res (2007) 1.71
Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes. Nucleic Acids Res (2005) 1.70
ANGPT2 genetic variant is associated with trauma-associated acute lung injury and altered plasma angiopoietin-2 isoform ratio. Am J Respir Crit Care Med (2011) 1.62
A comprehensive computational characterization of conserved mammalian intronic sequences reveals conserved motifs associated with constitutive and alternative splicing. Genome Res (2007) 1.58
A class of human exons with predicted distant branch points revealed by analysis of AG dinucleotide exclusion zones. Genome Biol (2006) 1.56
Genome-wide analysis reveals SR protein cooperation and competition in regulated splicing. Mol Cell (2013) 1.56
An intronic element contributes to splicing repression in spinal muscular atrophy. Proc Natl Acad Sci U S A (2007) 1.55
Identification of nuclear and cytoplasmic mRNA targets for the shuttling protein SF2/ASF. PLoS One (2008) 1.51
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am J Hum Genet (2007) 1.50
Depolarization and CaM kinase IV modulate NMDA receptor splicing through two essential RNA elements. PLoS Biol (2007) 1.49
A versatile gene trap to visualize and interrogate the function of the vertebrate proteome. Genes Dev (2011) 1.48
Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms. Mol Ther (2008) 1.48
Genomic features defining exonic variants that modulate splicing. Genome Biol (2010) 1.46
RNA landscape of evolution for optimal exon and intron discrimination. Proc Natl Acad Sci U S A (2008) 1.45
A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation. Genome Res (2008) 1.44
Dichotomous splicing signals in exon flanks. Genome Res (2005) 1.42
Evolution of SR protein and hnRNP splicing regulatory factors. Wiley Interdiscip Rev RNA (2011) 1.37
Intronic splicing enhancers, cognate splicing factors and context-dependent regulation rules. Nat Struct Mol Biol (2012) 1.36
Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant. Mol Cell Biol (2008) 1.35
Quantitative evaluation of all hexamers as exonic splicing elements. Genome Res (2011) 1.32
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. Genome Biol (2014) 1.32
SROOGLE: webserver for integrative, user-friendly visualization of splicing signals. Nucleic Acids Res (2009) 1.32
U2AF binding selects for the high conservation of the C. elegans 3' splice site. RNA (2005) 1.30
SPOT: a web-based tool for using biological databases to prioritize SNPs after a genome-wide association study. Nucleic Acids Res (2010) 1.29
Transposable elements in disease-associated cryptic exons. Hum Genet (2009) 1.28
Characteristics and regulatory elements defining constitutive splicing and different modes of alternative splicing in human and mouse. RNA (2005) 1.28
A complex network of factors with overlapping affinities represses splicing through intronic elements. Nat Struct Mol Biol (2012) 1.26
Compensatory relationship between splice sites and exonic splicing signals depending on the length of vertebrate introns. BMC Genomics (2006) 1.26
Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition. Nucleic Acids Res (2007) 1.25
Genome-wide association between branch point properties and alternative splicing. PLoS Comput Biol (2010) 1.24
Alu exonization events reveal features required for precise recognition of exons by the splicing machinery. PLoS Comput Biol (2009) 1.20
Positive selection acting on splicing motifs reflects compensatory evolution. Genome Res (2008) 1.18
Evolutionary and expression signatures of pseudogenes in Arabidopsis and rice. Plant Physiol (2009) 1.18
Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping. Eur J Hum Genet (2009) 1.18
Identification of evolutionarily conserved exons as regulated targets for the splicing activator tra2β in development. PLoS Genet (2011) 1.17
An exonic splicing silencer downstream of the 3' splice site A2 is required for efficient human immunodeficiency virus type 1 replication. J Virol (2005) 1.17
DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites. Nucleic Acids Res (2010) 1.16
The emergence of alternative 3' and 5' splice site exons from constitutive exons. PLoS Comput Biol (2007) 1.15
Networking in a global world: establishing functional connections between neural splicing regulators and their target transcripts. RNA (2011) 1.14
Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. J Cancer Res Clin Oncol (2010) 1.14
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat (2011) 1.13
A computational survey of candidate exonic splicing enhancer motifs in the model plant Arabidopsis thaliana. BMC Bioinformatics (2007) 1.13
Alternative splicing of Alu exons--two arms are better than one. Nucleic Acids Res (2008) 1.11
Phylogenetically widespread alternative splicing at unusual GYNGYN donors. Genome Biol (2006) 1.09
Biased exon/intron distribution of cryptic and de novo 3' splice sites. Nucleic Acids Res (2005) 1.08
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. BMC Genomics (2006) 1.08
Genes in glucose metabolism and association with spina bifida. Reprod Sci (2008) 1.07
An apparent pseudo-exon acts both as an alternative exon that leads to nonsense-mediated decay and as a zero-length exon. Mol Cell Biol (2006) 1.07
AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon. Nucleic Acids Res (2011) 1.07
Functional selection and systematic analysis of intronic splicing elements identify active sequence motifs and associated splicing factors. Nucleic Acids Res (2010) 1.06
Stoichiometry of a regulatory splicing complex revealed by single-molecule analyses. EMBO J (2010) 1.05
Splicing of designer exons reveals unexpected complexity in pre-mRNA splicing. RNA (2009) 1.04
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum Mol Genet (2011) 1.03
Antisense-induced myostatin exon skipping leads to muscle hypertrophy in mice following octa-guanidine morpholino oligomer treatment. Mol Ther (2010) 1.03
Exonic splicing enhancers in fission yeast: functional conservation demonstrates an early evolutionary origin. Genes Dev (2004) 1.02
Exonization of AluYa5 in the human ACE gene requires mutations in both 3' and 5' splice sites and is facilitated by a conserved splicing enhancer. Nucleic Acids Res (2005) 1.02
A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. Mol Vis (2010) 1.01
Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy. Mol Ther (2009) 1.00
Antisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB. BMC Mol Biol (2007) 0.99
Design of phosphorodiamidate morpholino oligomers (PMOs) for the induction of exon skipping of the human DMD gene. Mol Ther (2009) 0.98
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. Am J Hum Genet (2007) 0.98
Exon creation and establishment in human genes. Genome Biol (2008) 0.98
Unexpected selection to retain high GC content and splicing enhancers within exons of multiexonic lncRNA loci. RNA (2015) 0.97
Regions of extreme synonymous codon selection in mammalian genes. Nucleic Acids Res (2006) 0.97
Identification of splicing silencers and enhancers in sense Alus: a role for pseudoacceptors in splice site repression. Mol Cell Biol (2005) 0.97
Mechanistic control of carcinoembryonic antigen-related cell adhesion molecule-1 (CEACAM1) splice isoforms by the heterogeneous nuclear ribonuclear proteins hnRNP L, hnRNP A1, and hnRNP M. J Biol Chem (2011) 0.97
Far upstream element-binding protein 1 and RNA secondary structure both mediate second-step splicing repression. Proc Natl Acad Sci U S A (2013) 0.96
RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events. Nucleic Acids Res (2007) 0.96
RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts. Genome Res (2015) 0.95
Candidate gene association studies: a comprehensive guide to useful in silico tools. BMC Genet (2013) 0.95
Perturbation of chromatin structure globally affects localization and recruitment of splicing factors. PLoS One (2012) 0.94
Allele-specific recognition of the 3' splice site of INS intron 1. Hum Genet (2010) 0.94
Intronic motif pairs cooperate across exons to promote pre-mRNA splicing. Genome Biol (2010) 0.94
Strategies for identifying RNA splicing regulatory motifs and predicting alternative splicing events. PLoS Comput Biol (2008) 0.94
Differentiated evolutionary rates in alternative exons and the implications for splicing regulation. BMC Evol Biol (2006) 0.93
Computational analysis of splicing errors and mutations in human transcripts. BMC Genomics (2008) 0.93
Statistical significance for genomewide studies. Proc Natl Acad Sci U S A (2003) 88.64
Prediction of complete gene structures in human genomic DNA. J Mol Biol (1997) 58.76
Mechanisms of alternative pre-messenger RNA splicing. Annu Rev Biochem (2003) 21.11
Predictive identification of exonic splicing enhancers in human genes. Science (2002) 16.86
Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet (2002) 16.29
ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res (2003) 12.81
Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol (2004) 11.39
Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem Sci (2000) 10.77
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Exon definition may facilitate splice site selection in RNAs with multiple exons. Mol Cell Biol (1990) 8.17
Computational identification of promoters and first exons in the human genome. Nat Genet (2001) 5.88
Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins. Genes Dev (1998) 5.79
Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. Methods Enzymol (1990) 5.35
Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Mol Cell Biol (1989) 5.19
Finding signals that regulate alternative splicing in the post-genomic era. Genome Biol (2002) 4.73
The human splicing factors ASF/SF2 and SC35 possess distinct, functionally significant RNA binding specificities. EMBO J (1995) 4.66
Polypyrimidine tract binding protein antagonizes exon definition. Mol Cell Biol (2001) 4.10
Statistical features of human exons and their flanking regions. Hum Mol Genet (1998) 3.98
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet (2003) 3.84
Selection and characterization of pre-mRNA splicing enhancers: identification of novel SR protein-specific enhancer sequences. Mol Cell Biol (1999) 3.36
Identification of a new class of exonic splicing enhancers by in vivo selection. Mol Cell Biol (1997) 3.36
HnRNP L stimulates splicing of the eNOS gene by binding to variable-length CA repeats. Nat Struct Biol (2003) 3.22
Exonic splicing enhancer motif recognized by human SC35 under splicing conditions. Mol Cell Biol (2000) 3.01
Multiple splicing defects in an intronic false exon. Mol Cell Biol (2000) 2.97
hnRNP A1 recruited to an exon in vivo can function as an exon splicing silencer. Mol Cell Biol (1999) 2.93
Multiple distinct splicing enhancers in the protein-coding sequences of a constitutively spliced pre-mRNA. Mol Cell Biol (1999) 2.72
Sequence information for the splicing of human pre-mRNA identified by support vector machine classification. Genome Res (2003) 2.42
Selection of novel exon recognition elements from a pool of random sequences. Mol Cell Biol (1995) 2.27
Substrate specificities of SR proteins in constitutive splicing are determined by their RNA recognition motifs and composite pre-mRNA exonic elements. Mol Cell Biol (1999) 2.05
Human genomic sequences that inhibit splicing. Mol Cell Biol (2000) 1.73
Silencer elements as possible inhibitors of pseudoexon splicing. Nucleic Acids Res (2004) 1.65
Nonsense-mediated mRNA decay: from vacuum cleaner to Swiss army knife. Genome Biol (2004) 1.59
Direct selection for mutations affecting specific splice sites in a hamster dihydrofolate reductase minigene. Mol Cell Biol (1993) 1.57
Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay. Blood (2002) 1.43
Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum. Mutat Res (1998) 1.42
Determination of mRNA fate by different RNA polymerase II promoters. Proc Natl Acad Sci U S A (1993) 1.39
Comparison of intron-containing and intron-lacking human genes elucidates putative exonic splicing enhancers. Nucleic Acids Res (2001) 1.18
Large exon size does not limit splicing in vivo. Mol Cell Biol (1994) 1.11
Predicted changes in pre-mRNA secondary structure vary in their association with exon skipping for mutations in exons 2, 4, and 8 of the Hprt gene and exon 51 of the fibrillin gene. Mutat Res (2000) 0.98
CHUK, a conserved helix-loop-helix ubiquitous kinase, maps to human chromosome 10 and mouse chromosome 19. Genomics (1995) 0.87
Sequence information for the splicing of human pre-mRNA identified by support vector machine classification. Genome Res (2003) 2.42
Exon inclusion is dependent on predictable exonic splicing enhancers. Mol Cell Biol (2005) 2.02
Comparison of multiple vertebrate genomes reveals the birth and evolution of human exons. Proc Natl Acad Sci U S A (2006) 1.97
Dynamic regulation of alternative splicing by silencers that modulate 5' splice site competition. Cell (2008) 1.91
Dichotomous splicing signals in exon flanks. Genome Res (2005) 1.42
Gene amplification and vector engineering to achieve rapid and high-level therapeutic protein production using the Dhfr-based CHO cell selection system. Biotechnol Adv (2010) 1.36
Quantitative evaluation of all hexamers as exonic splicing elements. Genome Res (2011) 1.32
Positive selection acting on splicing motifs reflects compensatory evolution. Genome Res (2008) 1.18
Computational searches for splicing signals. Methods (2005) 1.15
The effect of nonsense codons on splicing: a genomic analysis. RNA (2003) 1.15
Splicing of designer exons reveals unexpected complexity in pre-mRNA splicing. RNA (2009) 1.04
Intronic motif pairs cooperate across exons to promote pre-mRNA splicing. Genome Biol (2010) 0.94
Transcription-coupled and transcription-independent repair of cyclobutane pyrimidine dimers in the dihydrofolate reductase gene. J Biol Chem (2002) 0.87
Context-dependent splicing regulation: exon definition, co-occurring motif pairs and tissue specificity. RNA Biol (2011) 0.85
The isolation of CHO cells with a site conferring a high and reproducible transgene amplification rate. J Biotechnol (2013) 0.81
Latent splice sites and stop codons revisited. RNA (2004) 0.78
Effects of genomic context and chromatin structure on transcription-coupled and global genomic repair in mammalian cells. Nucleic Acids Res (2003) 0.78
Splicing by cell type. Nat Biotechnol (2010) 0.75