ESEfinder: A web resource to identify exonic splicing enhancers.
paper
Cited
Public
Unavailable
- Authors
- Cartegni, Luca; Wang, Jinhua; Zhu, Zhengwei; Zhang, Michael Q; Krainer, Adrian R
- Year
- 2003
- Journal
- Nucleic acids research
- PMID
- 12824367
- DOI
- 10.1093/nar/gkg616
- PMCID
- PMC169022
Point mutations frequently cause genetic diseases by disrupting the correct pattern of pre-mRNA splicing. The effect of a point mutation within a coding sequence is traditionally attributed to the deduced change in the corresponding amino acid. However, some point mutations can have much more severe effects on the structure of the encoded protein, for example when they inactivate an exonic splicing enhancer (ESE), thereby resulting in exon skipping. ESEs also appear to be especially important in exons that normally undergo alternative splicing. Different classes of ESE consensus motifs have been described, but they are not always easily identified. ESEfinder (http://exon.cshl.edu/ESE/) is a web-based resource that facilitates rapid analysis of exon sequences to identify putative ESEs responsive to the human SR proteins SF2/ASF, SC35, SRp40 and SRp55, and to predict whether exonic mutations disrupt such elements.
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| IntSplice2: Prediction of the Splicing Effects of Intronic Single-Nucleotide Variants Using LightGBM Modeling. | Takeda JI et al. | β | 2021 | β |
| <i>PDE4B</i> Proposed as a High Myopia Susceptibility Gene in Chinese Population. | Zhao F et al. | β | 2021 | β |
| Mutations in cis that affect mRNA synthesis, processing and translation. | Roos D et al. | β | 2021 | β |
| Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel. | SudriΓ©-Arnaud B et al. | β | 2021 | β |
| Next-generation sequencing for inborn errors of immunity. | Lee K et al. | β | 2021 | β |
| Rapidly Growing Protein-Centric Technologies to Extensively Identify Protein-RNA Interactions: Application to the Analysis of Co-Transcriptional RNA Processing. | Masuda A et al. | β | 2021 | β |
| Relative strength of 5' splice-site strength defines functions of SRSF2 and SRSF6 in alternative splicing of Bcl-x pre-mRNA. | Choi N et al. | β | 2021 | β |
| Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes. | Hong X et al. | β | 2021 | β |
| SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families. | Firasat S et al. | β | 2021 | β |
| Splicing in the Diagnosis of Rare Disease: Advances and Challenges. | Lord J et al. | β | 2021 | β |
| SRSF1 promotes the inclusion of exon 3 of SRA1 and the invasion of hepatocellular carcinoma cells by interacting with exon 3 of SRA1pre-mRNA. | Lei S et al. | β | 2021 | β |
| Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia. | Ajiro M et al. | β | 2021 | β |
| The RNA-binding profile of the splicing factor SRSF6 in immortalized human pancreatic Ξ²-cells. | Alvelos MI et al. | β | 2021 | β |
| What's Wrong in a Jump? Prediction and Validation of Splice Site Variants. | Riolo G et al. | β | 2021 | β |
| Widespread Alternative Splicing Changes in Metastatic Breast Cancer Cells. | Oh J et al. | β | 2021 | β |
| A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the <i>ATP7B</i> Gene. | Zhou X et al. | β | 2020 | β |
| A Functional Synonymous Variant in <i>PDGFRA</i> Is Associated with Better Survival in Acral Melanoma. | Dai J et al. | β | 2020 | β |
| AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1. | Stepniak-Konieczna E et al. | β | 2020 | β |
| A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient. | Fioretti T et al. | β | 2020 | β |
| A SNP involved in alternative splicing of <i>ABCB1</i> is associated with clopidogrel resistance in coronary heart disease in Chinese population. | Zhang S et al. | β | 2020 | β |
| Association Between Lifelong Premature Ejaculation and Polymorphism of Tryptophan Hydroxylase 2 Gene in the Han Population. | Fu X et al. | β | 2020 | β |
| Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. | Schrauwen I et al. | β | 2020 | β |
| Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures. | Tan TY et al. | β | 2020 | β |
| Clinical and genetic characteristics of patients with Doose syndrome. | Hinokuma N et al. | β | 2020 | β |
| Cryptic exon activation causes dystrophinopathy in two Chinese families. | Jin M et al. | β | 2020 | β |
| Cylindrical spirals in two families: Clinical and genetic investigations. | Beecroft SJ et al. | β | 2020 | β |
| DeepCLIP: predicting the effect of mutations on protein-RNA binding with deep learning. | GrΓΈnning AGB et al. | β | 2020 | β |
| Deep intronic F8 c.5999-27A>G variant causes exon 19 skipping and leads to moderate hemophilia A. | Wang X et al. | β | 2020 | β |
| Developmental Expression of SULT1C4 Transcript Variants in Human Liver: Implications for Discordance Between SULT1C4 mRNA and Protein Levels. | Dubaisi S et al. | β | 2020 | β |
| Development of an Antisense Oligonucleotide-Mediated Exon Skipping Therapeutic Strategy for Mucolipidosis II: Validation at RNA Level. | Matos L et al. | β | 2020 | β |
| Effects of cytochrome P450 oxidoreductase genotypes on the pharmacokinetics of amlodipine in healthy Korean subjects. | Han JM et al. | β | 2020 | β |
| Enhancing Diagnosis Through RNA Sequencing. | Murdock DR | β | 2020 | β |
| Extending the Phenotypic Spectrum Associated with <i>STUB1</i> Mutations: A Case of Dystonia. | Olszewska DA et al. | β | 2020 | β |
| Genomic analysis of inherited hearing loss in the Palestinian population. | Abu Rayyan A et al. | β | 2020 | β |
| IL-37 Gene and Cholesterol Metabolism: Association of Polymorphisms with the Presence of Hypercholesterolemia and Cardiovascular Risk Factors. The GEA Mexican Study. | LΓ³pez-Bautista F et al. | β | 2020 | β |
| Impact of a <i>Gap Junction Protein Alpha 4</i> Variant on Clinical Disease Phenotype in <i>F508del</i> Homozygous Patients With Cystic Fibrosis. | Horn T et al. | β | 2020 | β |
| Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence. | Cerasuolo A et al. | β | 2020 | β |
| Influence of GRK5 gene polymorphisms on ritodrine efficacy and adverse drug events in preterm labor treatment. | Chung JE et al. | β | 2020 | β |
| Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants. | MorΓn M et al. | β | 2020 | β |
| In silico features of ADAMTS13 contributing to plasmatic ADAMTS13 levels in neonates with congenital heart disease. | Katneni UK et al. | β | 2020 | β |
| Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements. | Tubeuf H et al. | β | 2020 | β |
| MLH1 intronic variants mapping toβ+β5 position of splice donor sites lead to deleterious effects on RNA splicing. | PiΓ±ero TA et al. | β | 2020 | β |
| Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity. | Coutinho MF et al. | β | 2020 | β |
| Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome in <i>COL7A1</i>. | Ham KA et al. | β | 2020 | β |
| Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models. | AΓsa-MarΓn I et al. | β | 2020 | β |
| Pharmacogenomics, How to Deal with Different Types of Variants in Next Generation Sequencing Data in the Personalized Medicine Area. | Tafazoli A et al. | β | 2020 | β |
| Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect. | Huang D et al. | β | 2020 | β |
| Poison Exon Splicing Regulates a Coordinated Network of SR Protein Expression during Differentiation and Tumorigenesis. | Leclair NK et al. | β | 2020 | β |
| Pseudoxanthoma elasticum and retinitis pigmentosa: dual diagnosis of recessive conditions with ophthalmological consequences. | Katiyar D et al. | β | 2020 | β |
| Reticular dysgenesis caused by an intronic pathogenic variant in <i>AK2</i>. | Ichikawa S et al. | β | 2020 | β |
| Sensitive and reliable evaluation of single-cut sgRNAs to restore dystrophin by a GFP-reporter assay. | Lyu P et al. | β | 2020 | β |
| shani mutation in mouse affects splicing of Spata22 and leads to impaired meiotic recombination. | Petrillo C et al. | β | 2020 | β |
| Simultaneous Detection of <i>NF1</i>, <i>SPRED1</i>, <i>LZTR1</i>, and <i>NF2</i> Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients. | Bianchessi D et al. | β | 2020 | β |
| Single Exon Skipping Can Address a Multi-Exon Duplication in the Dystrophin Gene. | Greer K et al. | β | 2020 | β |
| Splicing of exon 9a in FMR1 transcripts results in a truncated FMRP with altered subcellular distribution. | Fu XG et al. | β | 2020 | β |
| SRSF2 Regulation of <i>MDM2</i> Reveals Splicing as a Therapeutic Vulnerability of the p53 Pathway. | Comiskey DF et al. | β | 2020 | β |
| Strategies for whole-exome sequencing analysis in a case series study of familial male infertility. | Askari M et al. | β | 2020 | β |
| Telomere Maintenance Genes are associated with Type 2 Diabetes Susceptibility in Northwest Indian Population Group. | Sethi I et al. | β | 2020 | β |
| TIMP1 intron 3 retention is a marker of colon cancer progression controlled by hnRNPA1. | Flodrops M et al. | β | 2020 | β |
| Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. | Canson D et al. | β | 2020 | β |
| Aberrant alternative splicing in breast cancer. | Yang Q et al. | β | 2019 | β |
| Activation of butterfly eyespots by Distal-less is consistent with a reaction-diffusion process. | Connahs H et al. | β | 2019 | β |
| Activation of cryptic splice sites in three patients with chronic granulomatous disease. | de Boer M et al. | β | 2019 | β |
| A deep intronic splice mutation of <i>STAT3</i> underlies hyper IgE syndrome by negative dominance. | Khourieh J et al. | β | 2019 | β |
| AGT haplotype in ITGA4 gene is related to antibody-mediated rejection in heart transplant patients. | NΓΊΓ±ez L et al. | β | 2019 | β |
| Alternative splicing regulates stochastic NLRP3 activity. | Hoss F et al. | β | 2019 | β |
| Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer. | Karam R et al. | β | 2019 | β |
| Association between HNF4A mutations and bleeding complications in patients with stable international normalized ratio. | Kim W et al. | β | 2019 | β |
| Biallelic disruption of <i>PKDCC</i> is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features. | Sajan SA et al. | β | 2019 | β |
| Characterization of splice-altering mutations in inherited predisposition to cancer. | Casadei S et al. | β | 2019 | β |
| Characterization of the IVS-II-821 (A>C) (<i>HBB</i>: c.316-30A>C) Mutation in a Ξ²-Thalassemia Phenotype in Iran. | Azimi A et al. | β | 2019 | β |
| Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. | Winckler PB et al. | β | 2019 | β |
| Context matters: Regulation of splice donor usage. | Ptok J et al. | β | 2019 | β |
| Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease. | Khan M et al. | β | 2019 | β |
| DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene. | Bailey M et al. | β | 2019 | β |
| Genetic variants of VWF gene in type 2 von Willebrand disease. | Freitas SDS et al. | β | 2019 | β |
| Hereditary hearing loss; about the known and the unknown. | Kremer H | β | 2019 | β |
| Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. | Fadaie Z et al. | β | 2019 | β |
| Incorporating user feedback in the design of a genetics analysis tool: A two-part approach. | Swaminathan A et al. | β | 2019 | β |
| Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing. | Rowlands CF et al. | β | 2019 | β |
| Massive computational identification of somatic variants in exonic splicing enhancers using The Cancer Genome Atlas. | Tanimoto K et al. | β | 2019 | β |
| Minigene Splicing Assays Identify 12 Spliceogenic Variants of <i>BRCA2</i> Exons 14 and 15. | Fraile-Bethencourt E et al. | β | 2019 | β |
| Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays. | Fraile-Bethencourt E et al. | β | 2019 | β |
| Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. | Abdelkreem E et al. | β | 2019 | β |
| Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1. | Ocklenburg S et al. | β | 2019 | β |
| Predicting the impact of single nucleotide variants on splicing via sequence-based deep neural networks and genomic features. | Naito T | β | 2019 | β |
| Prevalence of <i>ABCA4</i> Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease. | Nassisi M et al. | β | 2019 | β |
| Programmable mutually exclusive alternative splicing for generating RNA and protein diversity. | Mathur M et al. | β | 2019 | β |
| Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. | Boisson B et al. | β | 2019 | β |
| Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort. | Melloni G et al. | β | 2019 | β |
| Single-Nucleotide Polymorphisms (SNP) Mining and Their Effect on the Tridimensional Protein Structure Prediction in a Set of Immunity-Related Expressed Sequence Tags (EST) in Atlantic Salmon (<i>Salmo salar</i>). | Vallejos-Vidal E et al. | β | 2019 | β |
| SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renalΒ phenotypes. | Kim JH et al. | β | 2019 | β |
| Specific inhibition of splicing factor activity by decoy RNA oligonucleotides. | Denichenko P et al. | β | 2019 | β |
| SpliceV: analysis and publication quality printing of linear and circular RNA splicing, expression and regulation. | Ungerleider N et al. | β | 2019 | β |
| SRSF1 and PTBP1 Are <i>trans</i>-Acting Factors That Suppress the Formation of a CD33 Splicing Isoform Linked to Alzheimer's Disease Risk. | van Bergeijk P et al. | β | 2019 | β |
| Suppression of prostate tumor cell survival by antisense oligonucleotide-mediated inhibition of AR-V7 mRNA synthesis. | Luna Velez MV et al. | β | 2019 | β |
| Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families. | Tayebi N et al. | β | 2019 | β |
| TILLING in Barley. | Jost M et al. | β | 2019 | β |
| Understanding human DNA variants affecting pre-mRNA splicing in the NGS era. | Dufner-Almeida LG et al. | β | 2019 | β |
| ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. | Carapito R et al. | β | 2019 | β |
| A Comprehensive <i>in Silico</i> Analysis of Regulatory SNPs of Human CLEC7A Gene and Its Validation as Genotypic and Phenotypic Disease Marker in Recurrent Vulvovaginal Infections. | Kalia N et al. | β | 2018 | β |
| Age-dependent methylation in epigenetic clock CpGs is associated with G-quadruplex, co-transcriptionally formed RNA structures and tentative splice sites. | Malousi A et al. | β | 2018 | β |
| Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options. | Bergsma AJ et al. | β | 2018 | β |
| Antisense-Mediated Splice Modulation to Reframe Transcripts. | Titeux M et al. | β | 2018 | β |
| Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency. | Tsai CR et al. | β | 2018 | β |
| A SRSF1 self-binding mechanism restrains Mir505-3p from inhibiting proliferation of neural tumor cell lines. | Yang K et al. | β | 2018 | β |
| Association of the common SNPs in RNF212, STAG3 and RFX2 gene with male infertility with azoospermia in Chinese population. | Yu CH et al. | β | 2018 | β |
| Blocking the 5' splice site of exon 4 by a morpholino oligomer triggers APOL1 protein isoform switch. | Cheatham AM et al. | β | 2018 | β |
| Claudin-14 Gene Polymorphisms and Urine Calcium Excretion. | Arcidiacono T et al. | β | 2018 | β |
| Clustered <i>F8</i> missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity. | Donadon I et al. | β | 2018 | β |
| Common functional variants of the glutamatergic system in Autism spectrum disorder with high and low intellectual abilities. | Chiocchetti AG et al. | β | 2018 | β |
| Construction of a tri-chromatic reporter cell line for the rapid and simple screening of splice-switching oligonucleotides targeting DMD exon 51 using high content screening. | Shimo T et al. | β | 2018 | β |
| Coordinated expression and genetic polymorphisms in Grainyhead-like genes in human non-melanoma skin cancers. | Kikulska A et al. | β | 2018 | β |
| CRISPR/Cas9 deletions in a conserved exon of Distal-less generates gains and losses in a recently acquired morphological novelty in flies. | Rajaratnam G et al. | β | 2018 | β |
| Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations. | Rungroj N et al. | β | 2018 | β |
| Exon Skipping Using Antisense Oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy. | Hara Y et al. | β | 2018 | β |
| Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. | Amoasii L et al. | β | 2018 | β |
| Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy. | Celestino-Soper PBS et al. | β | 2018 | β |
| Genetic spectrum of low density lipoprotein receptor gene variations in South Indian population. | ArulJothi KN et al. | β | 2018 | β |
| Germline Variants in DNA Repair Genes, Diagnostic Radiation, and Risk of Thyroid Cancer. | Sandler JE et al. | β | 2018 | β |
| hnRNP G prevents inclusion on the HPV16 L1 mRNAs of the central exon between splice sites SA3358 and SD3632. | Yu H et al. | β | 2018 | β |
| <i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. | Sangermano R et al. | β | 2018 | β |
| Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy. | Meldau S et al. | β | 2018 | β |
| Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays. | Fraile-Bethencourt E et al. | β | 2018 | β |
| Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site. | MartΓnez-Pizarro A et al. | β | 2018 | β |
| In Vivo Evaluation of Multiple Exon Skipping with Peptide-PMOs in Cardiac and Skeletal Muscles in Dystrophic Dogs. | Maruyama R et al. | β | 2018 | β |
| Linc-9432 is a novel pterygium lincRNA which regulates differentiation of fibroblasts. | Lan W et al. | β | 2018 | β |
| Loss-of-function mutations of SCN10A encoding Na<sub>V</sub>1.8 Ξ± subunit of voltage-gated sodium channel in patients with human kidney stone disease. | Nettuwakul C et al. | β | 2018 | β |
| Polymorphism of the DNA methyltransferase 1 gene is associated with the susceptibility to essential hypertension in male. | Chen HL et al. | β | 2018 | β |
| Potential dysfunctional effects of synonymous variants: Insights from an exhaustive in silico analysis of the ABCB4 gene. | Khabou B et al. | β | 2018 | β |
| Regulation of Mcl-1 alternative splicing by hnRNP F, H1 and K in breast cancer cells. | Tyson-Capper A et al. | β | 2018 | β |
| Rules and tools to predict the splicing effects of exonic and intronic mutations. | Ohno K et al. | β | 2018 | β |
| Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease. | Suarez-Artiles L et al. | β | 2018 | β |
| Splicing mutations in human genetic disorders: examples, detection, and confirmation. | Anna A et al. | β | 2018 | β |
| SRSF1 modulates PTPMT1 alternative splicing to regulate lung cancer cell radioresistance. | Sheng J et al. | β | 2018 | β |
| Synonymous mutation adenomatous polyposis coliΞ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutationβnegative familial adenomatous polyposis. | Liu WQ et al. | β | 2018 | β |
| The serotonin transporter and the activity regulated cytoskeleton-associated protein genes in antidepressant response and resistance: 5-HTTLPR and other variants. | CalabrΓ² M et al. | β | 2018 | β |
| The splicing code. | Baralle M et al. | β | 2018 | β |
| Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11. | Baert A et al. | β | 2018 | β |
| Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion. | Maruyama R et al. | β | 2018 | β |
| Unique CD44 intronic SNP is associated with tumor grade in breast cancer: a case control study and in silico analysis. | Esmaeili R et al. | β | 2018 | β |
| A common polymorphism decreases LRP1 mRNA stability and is associated with increased plasma factor VIII levels. | Lee JD et al. | β | 2017 | β |
| A computational integrative approach based on alternative splicing analysis to compare immortalized and primary cancer cells. | Tripathi KP et al. | β | 2017 | β |
| A haplotype at intron 8 of PTPRT gene is associated with resistance to Brucella infection in Argentinian creole goats. | Rossi UA et al. | β | 2017 | β |
| Alternative splicing of U2AF1 reveals a shared repression mechanism for duplicated exons. | Kralovicova J et al. | β | 2017 | β |
| A mechanism underlying position-specific regulation of alternative splicing. | Hamid FM et al. | β | 2017 | β |
| AMPA GluA1-flip targeted oligonucleotide therapy reduces neonatal seizures and hyperexcitability. | Lykens NM et al. | β | 2017 | β |
| A Multilayered Control of the Human <i>Survival Motor Neuron</i> Gene Expression by Alu Elements. | Ottesen EW et al. | β | 2017 | β |
| A New AAV10-U7-Mediated Gene Therapy Prolongs Survival and Restores Function in an ALS Mouse Model. | Biferi MG et al. | β | 2017 | β |
| Annotating pathogenic non-coding variants in genic regions. | Gelfman S et al. | β | 2017 | β |
| An NS-segment exonic splicing enhancer regulates influenza A virus replication in mammalian cells. | Huang X et al. | β | 2017 | β |
| A novel 'splice site' HCN4 Gene mutation, c.1737+1 G>T, causes familial bradycardia, reduced heart rate response, impaired chronotropic competence and increased short-term heart rate variability. | Hategan L et al. | β | 2017 | β |
| A rapid and effective method for screening, sequencing and reporter verification of engineered frameshift mutations in zebrafish. | Prykhozhij SV et al. | β | 2017 | β |
| Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). | Usluer S et al. | β | 2017 | β |
| Association of two synonymous splicing-associated CpG single nucleotide polymorphisms in calpain 10 and solute carrier family 2 member 2 with type 2 diabetes. | Karambataki M et al. | β | 2017 | β |
| CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. | Butcher DT et al. | β | 2017 | β |
| Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach. | Burguez D et al. | β | 2017 | β |
| CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion. | Mou H et al. | β | 2017 | β |
| Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders. | Nagata K et al. | β | 2017 | β |
| DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD. | Zhou J et al. | β | 2017 | β |
| Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. | Fraile-Bethencourt E et al. | β | 2017 | β |
| Genetic Polymorphism of GABRR2 Modulates Individuals' General Cognitive Ability in Healthy Chinese Han People. | Ma Z et al. | β | 2017 | β |
| Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder. | Garcia-MartΓnez I et al. | β | 2017 | β |
| Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. | de Boer M et al. | β | 2017 | β |
| Hybrid splicing minigene and antisense oligonucleotides as efficient tools to determine functional protein/RNA interactions. | Cywoniuk P et al. | β | 2017 | β |
| Identification of a 35S U4/U6.U5 tri-small nuclear ribonucleoprotein (tri-snRNP) complex intermediate in spliceosome assembly. | Chen Z et al. | β | 2017 | β |
| In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases. | Cornelis SS et al. | β | 2017 | β |
| In Vitro Modulation of Endogenous Alternative Splicing Using Splice-Switching Antisense Oligonucleotides. | Park JE et al. | β | 2017 | β |
| ISVASE: identification of sequence variant associated with splicing event using RNA-seq data. | Aljohi HA et al. | β | 2017 | β |
| KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1. | Kapplinger JD et al. | β | 2017 | β |
| Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. | Chang WH et al. | β | 2017 | β |
| mRNA processing in mutant zebrafish lines generated by chemical and CRISPR-mediated mutagenesis produces unexpected transcripts that escape nonsense-mediated decay. | Anderson JL et al. | β | 2017 | β |
| Mutation in an exonic splicing enhancer site causing chronic granulomatous disease. | de Boer M et al. | β | 2017 | β |
| Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis. | Macia MS et al. | β | 2017 | β |
| Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics? | GrodeckΓ‘ L et al. | β | 2017 | β |
| Plasma Triglyceride Levels May Be Modulated by Gene Expression of IQCJ, NXPH1, PHF17 and MYB in Humans. | VallΓ©e Marcotte B et al. | β | 2017 | β |
| Polymorphisms in Inflammatory Mediator Genes and Risk of Preeclampsia in Taiyuan, China. | Wu W et al. | β | 2017 | β |
| Protein Sam68 regulates the alternative splicing of survivin DEx3. | Gaytan-Cervantes J et al. | β | 2017 | β |
| Resequencing three candidate genes discovers seven potentially deleterious variants susceptibility to major depressive disorder and suicide attempts in Chinese. | Rao S et al. | β | 2017 | β |
| RNA splicing in human disease and in the clinic. | Baralle D et al. | β | 2017 | β |
| Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy. | Amoasii L et al. | β | 2017 | β |
| Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction. | Ohno K et al. | β | 2017 | β |
| Splicing-related single nucleotide polymorphism of RAB, member of RAS oncogene family like 2B (RABL2B) jeopardises semen quality in Chinese Holstein bulls. | Wang X et al. | β | 2017 | β |
| SR Proteins: Binders, Regulators, and Connectors of RNA. | Jeong S | β | 2017 | β |
| SRSF1 suppresses selection of intron-distal 5' splice site of DOK7 intron 4 to generate functional full-length Dok-7 protein. | Ahsan KB et al. | β | 2017 | β |
| SRSF2 directly inhibits intron splicing to suppresses cassette exon inclusion. | Moon H et al. | β | 2017 | β |
| Succession of splicing regulatory elements determines cryptic 5Ξss functionality. | Brillen AL et al. | β | 2017 | β |
| Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes. | GrodeckΓ‘ L et al. | β | 2017 | β |
| Tandem hnRNP A1 RNA recognition motifs act in concert to repress the splicing of survival motor neuron exon 7. | Beusch I et al. | β | 2017 | β |
| The suppression of premature termination codons and the repair of splicing mutations in CFTR. | Oren YS et al. | β | 2017 | β |
| Unexpected consequences: exon skipping caused by CRISPR-generated mutations. | Sharpe JJ et al. | β | 2017 | β |
| Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population. | Zhou W et al. | β | 2017 | β |
| Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. | Mendes de Almeida R et al. | β | 2017 | β |
| A comprehensive in silico analysis of non-synonymous and regulatory SNPs of human MBL2 gene. | Kalia N et al. | β | 2016 | β |
| Allelic variation of the COMT gene in a despotic primate society: A haplotype is related to cortisol excretion in Macaca fuscata. | PflΓΌger LS et al. | β | 2016 | β |
| A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-DubΓ© syndrome in patients with primary spontaneous pneumothorax. | Zhang X et al. | β | 2016 | β |
| Association Between RET (rs1800860) and GFRA1 (rs45568534, rs8192663, rs181595401, rs7090693, and rs2694770) Variants and Kidney Size in Healthy Newborns. | Kaczmarczyk M et al. | β | 2016 | β |
| A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. | Prasad MK et al. | β | 2016 | β |
| Cbfb2 Isoform Dominates More Potent Cbfb1 and Is Required for Skeletal Development. | Jiang Q et al. | β | 2016 | β |
| Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application. | Salewsky B et al. | β | 2016 | β |
| Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. | Soukarieh O et al. | β | 2016 | β |
| Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita. | Ekhilevitch N et al. | β | 2016 | β |
| Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate. | Mitra AK et al. | β | 2016 | β |
| First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene. | Siala-Sahnoun O et al. | β | 2016 | β |
| GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females. | MarcΓ©-Grau A et al. | β | 2016 | β |
| GREM1 and POLE variants in hereditary colorectal cancer syndromes. | Rohlin A et al. | β | 2016 | β |
| In silico analysis of regulatory and structural motifs of the ovine HSP90AA1 gene. | GonzΓ‘lez C et al. | β | 2016 | β |
| In silico characterization of functional SNP within the oestrogen receptor gene. | RebaΓ― M et al. | β | 2016 | β |
| IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome. | Shibata A et al. | β | 2016 | β |
| Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients. | Yang J et al. | β | 2016 | β |
| Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function. | Tajnik M et al. | β | 2016 | β |
| Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. | HytΓΆnen MK et al. | β | 2016 | β |
| Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy. | Miskew Nichols B et al. | β | 2016 | β |
| Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. | Dubourg C et al. | β | 2016 | β |
| Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients. | MarkovΓ‘ S et al. | β | 2016 | β |
| Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing. | Klein P et al. | β | 2016 | β |
| Polymorphisms in complement genes and risk of preeclampsia in Taiyuan, China. | Wu W et al. | β | 2016 | β |
| Purifying Selection on Exonic Splice Enhancers in Intronless Genes. | Savisaar R et al. | β | 2016 | β |
| ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia. | Mitsioni AG et al. | β | 2016 | β |
| Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome. | Kallabi F et al. | β | 2016 | β |
| The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype. | Martone J et al. | β | 2016 | β |
| The Mouse-Specific Splice Variant mRAGE_v4 Encodes a Membrane-Bound RAGE That Is Resistant to Shedding and Does Not Contribute to the Production of Soluble RAGE. | Di Maggio S et al. | β | 2016 | β |
| Therapeutic correction of ApoER2 splicing in Alzheimer's disease mice using antisenseΒ oligonucleotides. | Hinrich AJ et al. | β | 2016 | β |
| The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer. | Hartung AM et al. | β | 2016 | β |
| Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system. | Gonzalez-Paredes FJ et al. | β | 2016 | β |
| Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement. | Azmanov DN et al. | β | 2016 | β |
| Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. | Ivansson EL et al. | β | 2016 | β |
| Whole-exome sequencing of Finnish hereditary breast cancer families. | MÀÀttΓ€ K et al. | β | 2016 | β |
| Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations. | Liquori A et al. | β | 2016 | β |
| 126 novel mutations in Italian patients with neurofibromatosis type 1. | Bianchessi D et al. | β | 2015 | β |
| A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD). | Grassmann F et al. | β | 2015 | β |
| A cautionary tale: the non-causal association between type 2 diabetes risk SNP, rs7756992, and levels of non-coding RNA, CDKAL1-v1. | Locke JM et al. | β | 2015 | β |
| Analysis of a FANCE Splice Isoform in Regard to DNA Repair. | Bouffard F et al. | β | 2015 | β |
| An AXIN2 Mutant Allele Associated With Predisposition to Colorectal Neoplasia Has Context-Dependent Effects on AXIN2 Protein Function. | Mazzoni SM et al. | β | 2015 | β |
| An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues. | Saraco N et al. | β | 2015 | β |
| A novel BRD4-NUT fusion in an undifferentiated sinonasal tumor highlights alternative splicing as a contributing oncogenic factor in NUT midline carcinoma. | Stirnweiss A et al. | β | 2015 | β |
| Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia. | Cocanougher B et al. | β | 2015 | β |
| Bioinformatics tools for discovery and functional analysis of single nucleotide polymorphisms. | Li L et al. | β | 2015 | β |
| Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder. | SΓ‘nchez-Mora C et al. | β | 2015 | β |
| Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency. | Nuzzo F et al. | β | 2015 | β |
| Characterization of variegate porphyria mutations using a minigene approach. | Granata BX et al. | β | 2015 | β |
| Chromatin and Genomic determinants of alternative splicing. | Wang K et al. | β | 2015 | β |
| Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets. | Capelli S et al. | β | 2015 | β |
| Convergence of Acquired Mutations and Alternative Splicing of CD19 Enables Resistance to CART-19 Immunotherapy. | Sotillo E et al. | β | 2015 | β |
| CoSREM: a graph mining algorithm for the discovery of combinatorial splicing regulatory elements. | Badr E et al. | β | 2015 | β |
| Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II. | Matos L et al. | β | 2015 | β |
| De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. | Burrage LC et al. | β | 2015 | β |
| Dissecting alternative splicing in the formation of Miltenberger glycophorin subtype III (GYP.Mur). | Hsu K et al. | β | 2015 | β |
| Distribution of cholecystokinin-B receptor genotype between patients with pancreatic cancer and controls and its impact on survival. | Smith JP et al. | β | 2015 | β |
| Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3' splice sites. | Philippi S et al. | β | 2015 | β |
| Epigenetic regulation of CDH1 exon 8 alternative splicing in gastric cancer. | Li XW et al. | β | 2015 | β |
| Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells. | BarthΓ©lΓ©my F et al. | β | 2015 | β |
| Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element. | Dal Mas A et al. | β | 2015 | β |
| Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh. | Fichou Y et al. | β | 2015 | β |
| Fine Mapping of a GWAS-Derived Obesity Candidate Region on Chromosome 16p11.2. | Volckmar AL et al. | β | 2015 | β |
| Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing. | HernΓ‘ndez-Imaz E et al. | β | 2015 | β |
| Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II. | Matos L et al. | β | 2015 | β |
| Genetics of Plasminogen Activator Inhibitor-1 (PAI-1) in a Ghanaian Population. | White MJ et al. | β | 2015 | β |
| HIV-1 splicing is controlled by local RNA structure and binding of splicing regulatory proteins at the major 5' splice site. | Mueller N et al. | β | 2015 | β |
| Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. | Altmann HM et al. | β | 2015 | β |
| Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle. | Pausch H et al. | β | 2015 | β |
| Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene. | Bach JE et al. | β | 2015 | β |
| Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients. | Maia S et al. | β | 2015 | β |
| Inhibition of vemurafenib-resistant melanoma by interference with pre-mRNA splicing. | Salton M et al. | β | 2015 | β |
| Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells. | GΓ©rard X et al. | β | 2015 | β |
| JAK2 exon 14 skipping in patients with primary myelofibrosis: a minor splice variant modulated by the JAK2-V617F allele burden. | Catarsi P et al. | β | 2015 | β |
| LPHN3 and attention-deficit/hyperactivity disorder: a susceptibility and pharmacogenetic study. | Bruxel EM et al. | β | 2015 | β |
| Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking. | Coutinho MF et al. | β | 2015 | β |
| Personal exposure to PM2.5, genetic variants and DNA damage: a multi-center population-based study in Chinese. | Chu M et al. | β | 2015 | β |
| Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure. | Lima AC et al. | β | 2015 | β |
| Recursive splicing in long vertebrate genes. | Sibley CR et al. | β | 2015 | β |
| Risk given by AGT polymorphisms in inducing susceptibility to essential hypertension among isolated populations from a remote region of China: A case-control study among the isolated populations. | Li Q et al. | β | 2015 | β |
| RNA therapeutics inactivate PCSK9 by inducing a unique intracellular retention form. | Rocha CS et al. | β | 2015 | β |
| Role of Acinus in regulating retinoic acid-responsive gene pre-mRNA splicing. | Wang F et al. | β | 2015 | β |
| Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells. | Palhais B et al. | β | 2015 | β |
| Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease. | Claverie-Martin F et al. | β | 2015 | β |
| Splicing factor SRSF1 negatively regulates alternative splicing of MDM2 under damage. | Comiskey DF et al. | β | 2015 | β |
| Splicing predictions reliably classify different types of alternative splicing. | Busch A et al. | β | 2015 | β |
| SRSF1-Regulated Alternative Splicing in Breast Cancer. | AnczukΓ³w O et al. | β | 2015 | β |
| SRSF1 RNA Recognition Motifs Are Strong Inhibitors of HIV-1 Replication. | Paz S et al. | β | 2015 | β |
| Statistical and Computational Methods for Genetic Diseases: An Overview. | Camastra F et al. | β | 2015 | β |
| Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients. | Fan ZC et al. | β | 2015 | β |
| Vemurafenib-resistant BRAF selects alternative branch points different from its wild-type BRAF in intron 8 for RNA splicing. | Ajiro M et al. | β | 2015 | β |
| Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders. | Moreno-Ramos OA et al. | β | 2015 | β |
| A bioinformatic and computational study of myosin phosphatase subunit diversity. | Dippold RP et al. | β | 2014 | β |
| Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2. | Doktor TK et al. | β | 2014 | β |
| A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal. | Coelho AI et al. | β | 2014 | β |
| A heroin addiction severity-associated intronic single nucleotide polymorphism modulates alternative pre-mRNA splicing of the ΞΌ opioid receptor gene OPRM1 via hnRNPH interactions. | Xu J et al. | β | 2014 | β |
| Alternative splicing of TAF6: downstream transcriptome impacts and upstream RNA splice control elements. | Kamtchueng C et al. | β | 2014 | β |
| Alternative splicing of type II procollagen: IIB or not IIB? | McAlinden A | β | 2014 | β |
| A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. | Vemula SR et al. | β | 2014 | β |
| A SNP in intron 8 of CD46 causes a novel transcript associated with mastitis in Holsteins. | Wang X et al. | β | 2014 | β |
| BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT. | Piras IS et al. | β | 2014 | β |
| BRCA1/2 germline mutations and their clinical importance in Turkish breast cancer patients. | Cecener G et al. | β | 2014 | β |
| Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders. | Waltes R et al. | β | 2014 | β |
| Conserved RNA cis-elements regulate alternative splicing of Lepidopteran doublesex. | Wang XY et al. | β | 2014 | β |
| Cytokine gene polymorphism among Indigenous Australians. | Cox AJ et al. | β | 2014 | β |
| Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family. | GonzΓ‘lez-Del Pozo M et al. | β | 2014 | β |
| Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease. | Gonzalez-Paredes FJ et al. | β | 2014 | β |
| Design and evaluation of locked nucleic acid-based splice-switching oligonucleotides in vitro. | Shimo T et al. | β | 2014 | β |
| Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene. | Degrolard-Courcet E et al. | β | 2014 | β |
| Endoglin deficiency impairs stroke recovery. | Shen F et al. | β | 2014 | β |
| Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools. | GrodeckΓ‘ L et al. | β | 2014 | β |
| Exonic splicing signals impose constraints upon the evolution of enzymatic activity. | Falanga A et al. | β | 2014 | β |
| Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. | Almoguera B et al. | β | 2014 | β |
| Exposing synonymous mutations. | Hunt RC et al. | β | 2014 | β |
| FTO-dependent demethylation of N6-methyladenosine regulates mRNA splicing and is required for adipogenesis. | Zhao X et al. | β | 2014 | β |
| Functional annotation of putative regulatory elements at cancer susceptibility Loci. | Rosse SA et al. | β | 2014 | β |
| Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology. | Falk J et al. | β | 2014 | β |
| Gene structure and spatio-temporal expression of chicken LPIN2. | Zhang C et al. | β | 2014 | β |
| Genetic variation and RNA binding proteins: tools and techniques to detect functional polymorphisms. | Soemedi R et al. | β | 2014 | β |
| Genomic HEXploring allows landscaping of novel potential splicing regulatory elements. | Erkelenz S et al. | β | 2014 | β |
| Genomics of alternative splicing: evolution, development and pathophysiology. | Gamazon ER et al. | β | 2014 | β |
| Genotype-phenotype associations in WT1 glomerulopathy. | Lipska BS et al. | β | 2014 | β |
| GFP-based fluorescence assay for CAG repeat instability in cultured human cells. | Santillan BA et al. | β | 2014 | β |
| HIV-1 transcription is regulated by splicing factor SRSF1. | Paz S et al. | β | 2014 | β |
| Human embryonic poly(A)-binding protein (EPAB) alternative splicing is differentially regulated in human oocytes and embryos. | Guzeloglu-Kayisli O et al. | β | 2014 | β |
| Identification of novel GRM1 mutations and single nucleotide polymorphisms in prostate cancer cell lines and tissues. | Ali S et al. | β | 2014 | β |
| In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle. | Venhoranta H et al. | β | 2014 | β |
| In silico prediction of splice-altering single nucleotide variants in the human genome. | Jian X et al. | β | 2014 | β |
| In silico to in vivo splicing analysis using splicing code models. | Gazzara MR et al. | β | 2014 | β |
| In silico tools for splicing defect prediction: a survey from the viewpoint of end users. | Jian X et al. | β | 2014 | β |
| Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1. | Boddu R et al. | β | 2014 | β |
| Mechanisms of the androgen receptor splicing in prostate cancer cells. | Liu LL et al. | β | 2014 | β |
| Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. | Whiley PJ et al. | β | 2014 | β |
| Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proΞ±1(I) collagen gene in Chinese osteogenesis imperfecta patients. | Lu Y et al. | β | 2014 | β |
| Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. | DeStefano GM et al. | β | 2014 | β |
| MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing. | Mort M et al. | β | 2014 | β |
| MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction. | Behrens-Gawlik V et al. | β | 2014 | β |
| Nonsense-mediated decay as a terminating mechanism for antisense oligonucleotides. | Ward AJ et al. | β | 2014 | β |
| Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype. | Colombo EA et al. | β | 2014 | β |
| NPAS3 variants in schizophrenia: a neuroimaging study. | Bernier D et al. | β | 2014 | β |
| PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing. | Taube JR et al. | β | 2014 | β |
| Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy loss. | Vatin M et al. | β | 2014 | β |
| PTB binds to the 3' untranslated region of the human astrovirus type 8: a possible role in viral replication. | Espinosa-HernΓ‘ndez W et al. | β | 2014 | β |
| RBPmap: a web server for mapping binding sites of RNA-binding proteins. | Paz I et al. | β | 2014 | β |
| Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. | Correia CT et al. | β | 2014 | β |
| Regulation of gene expression programmes by serine-arginine rich splicing factors. | ΓnkΓΆ ML | β | 2014 | β |
| SC35 promotes splicing of the C5-V6-C6 isoform of CD44 pre-mRNA. | Loh TJ et al. | β | 2014 | β |
| SeeSite: Characterizing Relationships between Splice Junctions and Splicing Enhancers. | Lo C et al. | β | 2014 | β |
| Slight variations in the SC35 ESE sequence motif among human chromosomes: a computational approach. | Siala O et al. | β | 2014 | β |
| Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model. | Bestas B et al. | β | 2014 | β |
| Splicing code modeling. | Barash Y et al. | β | 2014 | β |
| SRSF2 promotes splicing and transcription of exon 11 included isoform in Ron proto-oncogene. | Moon H et al. | β | 2014 | β |
| Targeted exon skipping to correct exon duplications in the dystrophin gene. | Greer KL et al. | β | 2014 | β |
| Targeting SR proteins improves SMN expression in spinal muscular atrophy cells. | Wee CD et al. | β | 2014 | β |
| The effect of the common c.2299delG mutation in USH2A on RNA splicing. | Lenassi E et al. | β | 2014 | β |
| The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency. | Olsen RK et al. | β | 2014 | β |
| The KIT gene is associated with the english spotting coat color locus and congenital megacolon in Checkered Giant rabbits (Oryctolagus cuniculus). | Fontanesi L et al. | β | 2014 | β |
| The roles of Ca2+/NFAT signaling genes in Kawasaki disease: single- and multiple-risk genetic variants. | Wang W et al. | β | 2014 | β |
| When a mid-intronic variation of DMD gene creates an ESE site. | Trabelsi M et al. | β | 2014 | β |
| Aberrantly spliced HTT, a new player in Huntington's disease pathogenesis. | Gipson TA et al. | β | 2013 | β |
| A deep intronic mutation in the ankyrin-1 gene causes diminished protein expression resulting in hemolytic anemia in mice. | Huang H et al. | β | 2013 | β |
| A family with Wagner syndrome with uveitis and a new versican mutation. | Rothschild PR et al. | β | 2013 | β |
| A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. | Zhang J et al. | β | 2013 | β |
| Alternative splicing of tumor suppressors and oncogenes. | Ghigna C et al. | β | 2013 | β |
| A mutation in the nuclear pore complex gene Tmem48 causes gametogenesis defects in skeletal fusions with sterility (sks) mice. | Akiyama K et al. | β | 2013 | β |
| Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals. | Piton A et al. | β | 2013 | β |
| A novel splice variant of FcΞ³RIIa: a risk factor for anaphylaxis in patients with hypogammaglobulinemia. | van der Heijden J et al. | β | 2013 | β |
| Antisense therapy in neurology. | Lee JJ et al. | β | 2013 | β |
| Association of potentially functional genetic variants of PLCE1 with gallbladder cancer susceptibility in north Indian population. | Sharma KL et al. | β | 2013 | β |
| Association of variants of ABCB11 with transient neonatal cholestasis. | Liu LY et al. | β | 2013 | β |
| A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exonΒ 26 skipping in four patients with von Willebrand disease (2A/IIE). | Pagliari MT et al. | β | 2013 | β |
| A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation. | Bruun GH et al. | β | 2013 | β |
| A variant in the LRRFIP1 gene is associated with adiposity and inflammation. | Plourde M et al. | β | 2013 | β |
| AVISPA: a web tool for the prediction and analysis of alternative splicing. | Barash Y et al. | β | 2013 | β |
| Candidate gene association studies: a comprehensive guide to useful in silico tools. | Patnala R et al. | β | 2013 | β |
| Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo. | Borges AS et al. | β | 2013 | β |
| Computational study of ADD1 gene polymorphism associated with hypertension. | Kundu A et al. | β | 2013 | β |
| DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients. | Sironi F et al. | β | 2013 | β |
| Do polymorphisms in the TAS1R1 gene contribute to broader differences in human taste intensity? | Rawal S et al. | β | 2013 | β |
| Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript. | Rimoldi V et al. | β | 2013 | β |
| Dystrophin rescue by trans-splicing: a strategy for DMD genotypes not eligible for exon skipping approaches. | Lorain S et al. | β | 2013 | β |
| Eight nucleotide substitutions inhibit splicing to HPV-16 3'-splice site SA3358 and reduce the efficiency by which HPV-16 increases the life span of primary human keratinocytes. | Li X et al. | β | 2013 | β |
| Estrogen alters the splicing of type 1 corticotropin-releasing hormone receptor in breast cancer cells. | Lal S et al. | β | 2013 | β |
| Exonal elements and factors involved in the depolarization-induced alternative splicing of neurexin 2. | Rozic G et al. | β | 2013 | β |
| Factor VIII genotype characterization of haemophilia A affected patients with transient and permanent inhibitors: a comprehensive Argentine study of inhibitor risks. | Rossetti LC et al. | β | 2013 | β |
| First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome. | Ben Mahmoud A et al. | β | 2013 | β |
| Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements. | Di Giacomo D et al. | β | 2013 | β |
| Genetic screening in adolescents with steroid-resistant nephrotic syndrome. | Lipska BS et al. | β | 2013 | β |
| Genome-wide analysis reveals SR protein cooperation and competition in regulated splicing. | Pandit S et al. | β | 2013 | β |
| GREMET: an integrative tool for the prediction of mutation effects on gene regulation. | Athanasiadis P et al. | β | 2013 | β |
| Hereditary breast cancer: the era of new susceptibility genes. | Apostolou P et al. | β | 2013 | β |
| Highly efficient in vivo delivery of PMO into regenerating myotubes and rescue in laminin-Ξ±2 chain-null congenital muscular dystrophy mice. | Aoki Y et al. | β | 2013 | β |
| Human PPP1R26P1 functions as cis-repressive element in mouse Rb1. | Steenpass L et al. | β | 2013 | β |
| Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. | Eisenberger T et al. | β | 2013 | β |
| Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients. | Rusmini M et al. | β | 2013 | β |
| Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. | Juan-Mateu J et al. | β | 2013 | β |
| In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs. | BlΓ‘zquez L et al. | β | 2013 | β |
| Lack of association of the HMGA1 IVS5-13insC variant with type 2 diabetes in an ethnically diverse hypertensive case control cohort. | Karnes JH et al. | β | 2013 | β |
| Leucine to proline substitution by SNP at position 197 in Caspase-9 gene expression leads to neuroblastoma: a bioinformatics analysis. | Kundu A et al. | β | 2013 | β |
| Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot. | Palomino Doza J et al. | β | 2013 | β |
| Medullary thyroid carcinoma (MTC) and RET proto-oncogene: mutation spectrum in the familial cases and a meta-analysis of studies on the sporadic form. | Figlioli G et al. | β | 2013 | β |
| Missense mutations of <i>MLH1</i> and <i>MSH2</i> genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers. | Zhu M et al. | β | 2013 | β |
| Molecular genetic testing and the future of clinical genomics. | Katsanis SH et al. | β | 2013 | β |
| Multiple tandem splicing silencer elements suppress aberrant splicing within the long exon 26 of the human Apolipoprotein B gene. | Srirangalingam U et al. | β | 2013 | β |
| Mutation screen and RNA analysis disclose the changed splicing of the E-cadherin transcription in gastric cancer. | Li X et al. | β | 2013 | β |
| Mutations in ANTXR1 cause GAPO syndrome. | StrΓ‘neckΓ½ V et al. | β | 2013 | β |
| Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy. | Rani AQ et al. | β | 2013 | β |
| Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. | Kamenarova K et al. | β | 2013 | β |
| Oligonucleotide therapeutics in cancer. | Wan J et al. | β | 2013 | β |
| Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. | Litim N et al. | β | 2013 | β |
| Polymorphisms in Fatty Acid Desaturase (FADS) Gene Cluster: Effects on Glycemic Controls Following an Omega-3 Polyunsaturated Fatty Acids (PUFA) Supplementation. | Cormier H et al. | β | 2013 | β |
| Polymorphisms in genes involved in the triglyceride synthesis pathway and marine omega-3 polyunsaturated fatty acid supplementation modulate plasma triglyceride levels. | Ouellette C et al. | β | 2013 | β |
| Polymorphisms in SELE gene and risk of coal workers' pneumoconiosis in Chinese: a case-control study. | Wang T et al. | β | 2013 | β |
| Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. | BorrΓ s E et al. | β | 2013 | β |
| Regulation of human papillomavirus gene expression by splicing and polyadenylation. | Johansson C et al. | β | 2013 | β |
| Regulation of splicing by SR proteins and SR protein-specific kinases. | Zhou Z et al. | β | 2013 | β |
| Rescue of cardiomyopathy through U7snRNA-mediated exon skipping in Mybpc3-targeted knock-in mice. | Gedicke-Hornung C et al. | β | 2013 | β |
| Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation. | Regis S et al. | β | 2013 | β |
| Screening of SLC26A4 gene in autoimmune thyroid diseases. | Kallel R et al. | β | 2013 | β |
| SpliceAid-F: a database of human splicing factors and their RNA-binding sites. | Giulietti M et al. | β | 2013 | β |
| Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients. | Shao J et al. | β | 2013 | β |
| The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures. | Reddy K et al. | β | 2013 | β |
| The evolution, impact and properties of exonic splice enhancers. | CΓ‘ceres EF et al. | β | 2013 | β |
| The involvement of the RET variant G691S in medullary thyroid carcinoma enlightened by a meta-analysis study. | Lantieri F et al. | β | 2013 | β |
| The missing puzzle piece: splicing mutations. | Lewandowska MA | β | 2013 | β |
| The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts. | Morrison FS et al. | β | 2013 | β |
| The ubiquitin ligase Praja1 reduces NRAGE expression and inhibits neuronal differentiation of PC12 cells. | Teuber J et al. | β | 2013 | β |
| The UDP-glucuronosyltransferase (UGT) 1A polymorphism c.2042C>G (rs8330) is associated with increased human liver acetaminophen glucuronidation, increased UGT1A exon 5a/5b splice variant mRNA ratio, and decreased risk of unintentional acetaminophen-induced acute liver failure. | Court MH et al. | β | 2013 | β |
| Transcript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regions. | Bettencourt C et al. | β | 2013 | β |
| Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. | Nuytemans K et al. | β | 2013 | β |
| Zinc-induced modulation of SRSF6 activity alters Bim splicing to promote generation of the most potent apoptotic isoform BimS. | Hara H et al. | β | 2013 | β |
| A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective. | Wooderchak-Donahue WL et al. | β | 2012 | β |
| A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. | Levesque S et al. | β | 2012 | β |
| An abundant, truncated human sulfonylurea receptor 1 splice variant has prodiabetic properties and impairs sulfonylurea action. | Schmid D et al. | β | 2012 | β |
| Antisense-mediated exon skipping to reframe transcripts. | Turczynski S et al. | β | 2012 | β |
| Antisense-mediated exon skipping to shift alternative splicing to treat cancer. | Wan J | β | 2012 | β |
| A prospective study in the rational design of efficient antisense oligonucleotides for exon skipping in the DMD gene. | Pramono ZA et al. | β | 2012 | β |
| A retroelement modifies pre-mRNA splicing: the murine Glrb(spa) allele is a splicing signal polymorphism amplified by long interspersed nuclear element insertion. | Becker K et al. | β | 2012 | β |
| Association between single-nucleotide polymorphisms of DNMT3L and infertility with azoospermia in Chinese men. | Huang JX et al. | β | 2012 | β |
| Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients. | GuΓ©nard F et al. | β | 2012 | β |
| Association of the intronic polymorphism rs891512 (G24943A) of the endothelial nitric oxide synthase gene with hypertension in Chilean type 2 diabetes patients. | Seelenfreund D et al. | β | 2012 | β |
| A syn-anti conformational difference allows SRSF2 to recognize guanines and cytosines equally well. | Daubner GM et al. | β | 2012 | β |
| A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements. | Fortugno P et al. | β | 2012 | β |
| Bioinformatics and mutations leading to exon skipping. | Desmet FO et al. | β | 2012 | β |
| Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery. | Aoki Y et al. | β | 2012 | β |
| Cancer predisposing BARD1 mutations in breast-ovarian cancer families. | Ratajska M et al. | β | 2012 | β |
| CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements. | Salem IH et al. | β | 2012 | β |
| Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers. | Malueka RG et al. | β | 2012 | β |
| Changes in exon-intron structure during vertebrate evolution affect the splicing pattern of exons. | Gelfman S et al. | β | 2012 | β |
| Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. | Thomassen M et al. | β | 2012 | β |
| Chemical approaches for structure and function of RNA in postgenomic era. | Ro-Choi TS et al. | β | 2012 | β |
| Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. | Vatanavicharn N et al. | β | 2012 | β |
| Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations. | Lacroix M et al. | β | 2012 | β |
| Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. | Arnoldi A et al. | β | 2012 | β |
| Comprehensive functional assessment of MLH1 variants of unknown significance. | BorrΓ s E et al. | β | 2012 | β |
| Deleterious GRM1 mutations in schizophrenia. | Ayoub MA et al. | β | 2012 | β |
| Determination of the clinical significance of an unclassified variant. | Zhang VW et al. | β | 2012 | β |
| Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma. | Taylor C et al. | β | 2012 | β |
| Differential GC content between exons and introns establishes distinct strategies of splice-site recognition. | Amit M et al. | β | 2012 | β |
| Discovery of functional gene variants associated with human longevity: opportunities and challenges. | Tazearslan C et al. | β | 2012 | β |
| DNA diagnostics and exon skipping. | Srirangalingam U et al. | β | 2012 | β |
| Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts. | Cazzella V et al. | β | 2012 | β |
| Extensive and prolonged restoration of dystrophin expression with vivo-morpholino-mediated multiple exon skipping in dystrophic dogs. | Yokota T et al. | β | 2012 | β |
| Features of missense/nonsense mutations in exonic splicing enhancer sequences from cancer-related human genes. | Jin P et al. | β | 2012 | β |
| Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. | Nakamura K et al. | β | 2012 | β |
| Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay. | Biswas K et al. | β | 2012 | β |
| Genetic polymorphisms in bovine transferrin receptor 2 (TFR2) and solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1) genes and their association with beef iron content. | Duan Q et al. | β | 2012 | β |
| Genetic variants at chromosome 9p21, 10p15 and 10q22 and breast cancer susceptibility in a Chinese population. | Chen J et al. | β | 2012 | β |
| Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease. | Pernet C et al. | β | 2012 | β |
| Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. | Houdayer C et al. | β | 2012 | β |
| HBV-related hepatocellular carcinoma susceptibility gene KIF1B is not associated with development of chronic hepatitis B. | Zhong R et al. | β | 2012 | β |
| Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy. | Dubey D et al. | β | 2012 | β |
| Identification and confirmation of an exonic splicing enhancer variation in exon 5 of the Alzheimer disease associated PICALM gene. | Schnetz-Boutaud NC et al. | β | 2012 | β |
| Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A. | Ravanbod S et al. | β | 2012 | β |
| Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations. | Riise Stensland HM et al. | β | 2012 | β |
| Identification of allele-specific alternative mRNA processing via transcriptome sequencing. | Li G et al. | β | 2012 | β |
| Identification of splice variants, targeted microRNAs and functional single nucleotide polymorphisms of the BOLA-DQA2 gene in dairy cattle. | Hou Q et al. | β | 2012 | β |
| Inefficient splicing of segment 7 and 8 mRNAs is an inherent property of influenza virus A/Brevig Mission/1918/1 (H1N1) that causes elevated expression of NS1 protein. | BackstrΓΆm Winquist E et al. | β | 2012 | β |
| Intron definition and a branch site adenosine at nt 385 control RNA splicing of HPV16 E6*I and E7 expression. | Ajiro M et al. | β | 2012 | β |
| Lentiviral vector integration in the human genome induces alternative splicing and generates aberrant transcripts. | Moiani A et al. | β | 2012 | β |
| Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer. | Tang W et al. | β | 2012 | β |
| Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. | Pierson CR et al. | β | 2012 | β |
| Multiple exon skipping strategies to by-pass dystrophin mutations. | Adkin CF et al. | β | 2012 | β |
| Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients. | Liu MY et al. | β | 2012 | β |
| Mutations in CIZ1 cause adult onset primary cervical dystonia. | Xiao J et al. | β | 2012 | β |
| Mutations in the NRG1 gene are associated with Hirschsprung disease. | Tang CS et al. | β | 2012 | β |
| Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. | Chiu YH et al. | β | 2012 | β |
| Mutually exclusive splicing regulates the Nav 1.6 sodium channel function through a combinatorial mechanism that involves three distinct splicing regulatory elements and their ligands. | ZuboviΔ L et al. | β | 2012 | β |
| Novel mutations in calcium/calmodulin-dependent protein kinase IV (CAMK4) gene in infertile men. | Khattri A et al. | β | 2012 | β |
| Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts. | Camacho-Vanegas O et al. | β | 2012 | β |
| Regulation of alternative splicing of tau exon 10 by 9G8 and Dyrk1A. | Ding S et al. | β | 2012 | β |
| RHOA is a modulator of the cholesterol-lowering effects of statin. | Medina MW et al. | β | 2012 | β |
| Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance. | Cogan J et al. | β | 2012 | β |
| Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. | Zhou J et al. | β | 2012 | β |
| Srp20 regulates TrkB pre-mRNA splicing to generate TrkB-Shc transcripts with implications for Alzheimer's disease. | Wong J et al. | β | 2012 | β |
| Targeted exon skipping to address "leaky" mutations in the dystrophin gene. | Fletcher S et al. | β | 2012 | β |
| The cardiotonic steroid digitoxin regulates alternative splicing through depletion of the splicing factors SRSF3 and TRA2B. | Anderson ES et al. | β | 2012 | β |
| The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization. | Kozyrev SV et al. | β | 2012 | β |
| The exon 29 c.3535A>T in the alpha-2-macroglobulin gene causing aberrant splice variants is associated with mastitis in dairy cattle. | Wang X et al. | β | 2012 | β |
| The HIV-1 major splice donor D1 is activated by splicing enhancer elements within the leader region and the p17-inhibitory sequence. | Asang C et al. | β | 2012 | β |
| The Ξ±(1)AT and TIMP-1 Gene Polymorphism in the Development of Asthma. | Kumar M et al. | β | 2012 | β |
| VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. | Bourassa CV et al. | β | 2012 | β |
| Variants in ASB10 are associated with open-angle glaucoma. | Pasutto F et al. | β | 2012 | β |
| Variants of the lamin A/C (LMNA) gene in non-valvular atrial fibrillation patients: a possible pathogenic role of the Thr528Met mutation. | Saj M et al. | β | 2012 | β |
| A A386G biallelic GPIbΞ± gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis. | Vettore S et al. | β | 2011 | β |
| Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease. | Tan YC et al. | β | 2011 | β |
| A comprehensive gene mutation screen in men with asthenozoospermia. | Visser L et al. | β | 2011 | β |
| A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing. | Covaciu C et al. | β | 2011 | β |
| A functional alternative splicing mutation in human tryptophan hydroxylase-2. | Zhang X et al. | β | 2011 | β |
| AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon. | Fu Y et al. | β | 2011 | β |
| Altered mRNA splicing in lipoprotein disorders. | Calandra S et al. | β | 2011 | β |
| Alternative splicing factor or splicing factor-2 plays a key role in intron retention of the endoglin gene during endothelial senescence. | Blanco FJ et al. | β | 2011 | β |
| AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases. | Safranow K et al. | β | 2011 | β |
| ANGPT2 genetic variant is associated with trauma-associated acute lung injury and altered plasma angiopoietin-2 isoform ratio. | Meyer NJ et al. | β | 2011 | β |
| An intronic mutation in MLH1 associated with familial colon and breast cancer. | Bianchi F et al. | β | 2011 | β |
| Antisense-induced myostatin exon skipping leads to muscle hypertrophy in mice following octa-guanidine morpholino oligomer treatment. | Kang JK et al. | β | 2011 | β |
| A polymorphism that delays fibrosis in hepatitis C promotes alternative splicing of AZIN1, reducing fibrogenesis. | Paris AJ et al. | β | 2011 | β |
| Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs. | Tan YC et al. | β | 2011 | β |
| A variant OSR1 allele which disturbs OSR1 mRNA expression in renal progenitor cells is associated with reduction of newborn kidney size and function. | Zhang Z et al. | β | 2011 | β |
| Bioinformatic analyses identifies novel protein-coding pharmacogenomic markers associated with paclitaxel sensitivity in NCI60 cancer cell lines. | Eng L et al. | β | 2011 | β |
| Cancer-associated splicing variant of tumor suppressor AIMP2/p38: pathological implication in tumorigenesis. | Choi JW et al. | β | 2011 | β |
| Cataloguing functionally relevant polymorphisms in gene DNA ligase I: a computational approach. | Singh AA et al. | β | 2011 | β |
| Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing. | BrandΓ£o RD et al. | β | 2011 | β |
| Compensatory signals associated with the activation of human GC 5' splice sites. | Kralovicova J et al. | β | 2011 | β |
| Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. | Mucaki EJ et al. | β | 2011 | β |
| Computational detection and functional analysis of human tissue-specific A-to-I RNA editing. | He T et al. | β | 2011 | β |
| DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. | Hildebrand MS et al. | β | 2011 | β |
| Exon 11 skipping of E-cadherin RNA downregulates its expression in head and neck cancer cells. | Sharma S et al. | β | 2011 | β |
| Exon-skipping events in candidates for clinical trials of morpholino. | Nakano S et al. | β | 2011 | β |
| Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. | DeJesus-Hernandez M et al. | β | 2011 | β |
| Functional expression of angiotensinogen depends on splicing enhancers in exon 2. | Cardoso CC et al. | β | 2011 | β |
| Genes involved in vasoconstriction and vasodilation system affect salt-sensitive hypertension. | Citterio L et al. | β | 2011 | β |
| Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites. | Faber K et al. | β | 2011 | β |
| Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. | Pfarr N et al. | β | 2011 | β |
| HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. | Thomas R et al. | β | 2011 | β |
| Homozygous carriers of the G allele of rs4664447 of the glucagon gene (GCG) are characterised by decreased fasting and stimulated levels of insulin, glucagon and glucagon-like peptide (GLP)-1. | Torekov SS et al. | β | 2011 | β |
| Human epigenome data reveal increased CpG methylation in alternatively spliced sites and putative exonic splicing enhancers. | Anastasiadou C et al. | β | 2011 | β |
| Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8. | Kaneko H et al. | β | 2011 | β |
| Identification of an alternative splicing isoform of chicken Lmbr1. | Huang Y et al. | β | 2011 | β |
| Inclusion of the central exon of parvovirus B19 precursor mRNA is determined by multiple splicing enhancers in both the exon and the downstream intron. | Guan W et al. | β | 2011 | β |
| In silico prediction of splice-affecting nucleotide variants. | Houdayer C | β | 2011 | β |
| Loss of exon identity is a common mechanism of human inherited disease. | Sterne-Weiler T et al. | β | 2011 | β |
| 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. | Dery KJ et al. | β | 2011 | β |
| Mismatched single stranded antisense oligonucleotides can induce efficient dystrophin splice switching. | Fragall CT et al. | β | 2011 | β |
| Molecular design of a splicing switch responsive to the RNA binding protein Tra2Ξ². | Grellscheid SN et al. | β | 2011 | β |
| Molecular study of the perforin gene in familial hematological malignancies. | El Abed R et al. | β | 2011 | β |
| Mutations in disguise. | Duga S et al. | β | 2011 | β |
| Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents. | Wilton SD et al. | β | 2011 | β |
| Novel Ξ±1 and Ξ³2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. | Lachance-Touchette P et al. | β | 2011 | β |
| Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. | Rohrbach M et al. | β | 2011 | β |
| Point mutations regarded as missense mutations cause splicing defects in the factor XI gene. | Zucker M et al. | β | 2011 | β |
| Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6. | Raponi M et al. | β | 2011 | β |
| Preliminary evidence for involvement of the tumour suppressor gene CHD5 in a family with cutaneous melanoma. | Lang J et al. | β | 2011 | β |
| p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study. | RenΓ© C et al. | β | 2011 | β |
| Rare homozygous status of P43 Ξ²1-tubulin polymorphism causes alterations in platelet ultrastructure. | Navarro-NΓΊΓ±ez L et al. | β | 2011 | β |
| RB1 gene mutations in Iranian patients with retinoblastoma: report of four novel mutations. | Ahani A et al. | β | 2011 | β |
| RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. | Lalonde E et al. | β | 2011 | β |
| Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility. | DomenΓ© S et al. | β | 2011 | β |
| SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site. | Doktor TK et al. | β | 2011 | β |
| SON controls cell-cycle progression by coordinated regulation of RNA splicing. | Ahn EY et al. | β | 2011 | β |
| Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6. | Tsou WL et al. | β | 2011 | β |
| Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. | Zampieri S et al. | β | 2011 | β |
| SRSF1 regulates the alternative splicing of caspase 9 via a novel intronic splicing enhancer affecting the chemotherapeutic sensitivity of non-small cell lung cancer cells. | Shultz JC et al. | β | 2011 | β |
| The evolution of alternative splicing exons in vascular endothelial growth factor A. | Xu J et al. | β | 2011 | β |
| The MLH1 2101C>A (Q701K) variant increases the risk of gastric cancer in Chinese males. | Zhi W et al. | β | 2011 | β |
| The SRSF1 linker induces semi-conservative ESE binding by cooperating with the RRMs. | Cho S et al. | β | 2011 | β |
| Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. | Wang X et al. | β | 2011 | β |
| 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls. | Medlej-Hashim M et al. | β | 2010 | β |
| Advances in translational bioinformatics: computational approaches for the hunting of disease genes. | Kann MG | β | 2010 | β |
| A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. | Sanz DJ et al. | β | 2010 | β |
| A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype. | Gladman JT et al. | β | 2010 | β |
| A long nuclear-retained non-coding RNA regulates synaptogenesis by modulating gene expression. | Bernard D et al. | β | 2010 | β |
| AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. | Jallu V et al. | β | 2010 | β |
| Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. | Zuercher J et al. | β | 2010 | β |
| Alternative RNA splicing in expression of the glutathione synthetase gene in human cells. | Uchida M et al. | β | 2010 | β |
| Alternative splicing of CD200 is regulated by an exonic splicing enhancer and SF2/ASF. | Chen Z et al. | β | 2010 | β |
| Analysis of mismatch repair gene mutations in Turkish HNPCC patients. | Tunca B et al. | β | 2010 | β |
| An exonic splicing enhancer within a bidirectional coding sequence regulates alternative splicing of an antisense mRNA. | Salato VK et al. | β | 2010 | β |
| An improved in silico selection of phenotype affecting polymorphisms in SLC6A4, HTR1A and HTR2A genes. | Piva F et al. | β | 2010 | β |
| A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients. | Costantino L et al. | β | 2010 | β |
| A novel functional rabbit IL-7 isoform. | Siewe BT et al. | β | 2010 | β |
| A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene. | Fukao T et al. | β | 2010 | β |
| A novel SR protein binding site in a cis-regulatory element of HIV-1. | Suptawiwat O et al. | β | 2010 | β |
| Antagonistic factors control the unproductive splicing of SC35 terminal intron. | Dreumont N et al. | β | 2010 | β |
| Antagonistic roles of four SR proteins in the biosynthesis of alternatively spliced tissue factor transcripts in monocytic cells. | Chandradas S et al. | β | 2010 | β |
| Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy. | Rimessi P et al. | β | 2010 | β |
| A splicing-independent function of SF2/ASF in microRNA processing. | Wu H et al. | β | 2010 | β |
| A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. | Davidson AE et al. | β | 2010 | β |
| CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. | Romanelli V et al. | β | 2010 | β |
| Common variation in the MOG gene influences transcript splicing in humans. | Jensen CJ et al. | β | 2010 | β |
| Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. | Betz B et al. | β | 2010 | β |
| Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. | Bishop DF et al. | β | 2010 | β |
| Constitutive overexpression of muscarinic receptors leads to vagal hyperreactivity. | Livolsi A et al. | β | 2010 | β |
| Context-dependent regulatory mechanism of the splicing factor hnRNP L. | Motta-Mena LB et al. | β | 2010 | β |
| Coronary heart disease risk prediction in the era of genome-wide association studies: current status and what the future holds. | Humphries SE et al. | β | 2010 | β |
| Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. | Walker LC et al. | β | 2010 | β |
| Development of a sensitive and specific quantitative reverse transcription-polymerase chain reaction assay for blood thyroglobulin messenger ribonucleic acid in the follow-up of patients with differentiated thyroid carcinoma. | Boldarine VT et al. | β | 2010 | β |
| Disturbed expression of splicing factors in renal cancer affects alternative splicing of apoptosis regulators, oncogenes, and tumor suppressors. | Piekielko-Witkowska A et al. | β | 2010 | β |
| Doublesex: a conserved downstream gene controlled by diverse upstream regulators. | Shukla JN et al. | β | 2010 | β |
| Exon skipping and duchenne muscular dystrophy therapy: selection of the most active U1 snRNA antisense able to induce dystrophin exon 51 skipping. | Incitti T et al. | β | 2010 | β |
| Experimentally increased codon bias in the Drosophila Adh gene leads to an increase in larval, but not adult, alcohol dehydrogenase activity. | Hense W et al. | β | 2010 | β |
| Expression and function of variants of human catecholamine transporters lacking the fifth transmembrane region encoded by exon 6. | Sogawa C et al. | β | 2010 | β |
| Expression and regulation of a low-density lipoprotein receptor exon 12 splice variant. | Ling IF et al. | β | 2010 | β |
| Frame-disrupting mutations elicit pre-mRNA accumulation independently of frame disruption. | Imam JS et al. | β | 2010 | β |
| GATA4 mutations in 357 unrelated patients with congenital heart malformation. | Butler TL et al. | β | 2010 | β |
| Genome-wide pharmacogenetics of antidepressant response in the GENDEP project. | Uher R et al. | β | 2010 | β |
| Genomic features defining exonic variants that modulate splicing. | Woolfe A et al. | β | 2010 | β |
| High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer. | Aceto GM et al. | β | 2010 | β |
| hnRNP L regulates the tumorigenic capacity of lung cancer xenografts in mice via caspase-9 pre-mRNA processing. | Goehe RW et al. | β | 2010 | β |
| Homozygosity for the EPHX2 K55R polymorphism increases the long-term risk of ischemic stroke in men: a study in Swedes. | Fava C et al. | β | 2010 | β |
| Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. | Schraders M et al. | β | 2010 | β |
| Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis. | Tao H et al. | β | 2010 | β |
| Identification of ASF/SF2 as a critical, allele-specific effector of the cyclin D1b oncogene. | Olshavsky NA et al. | β | 2010 | β |
| Identification of novel SNPs by next-generation sequencing of the genomic region containing the APC gene in colorectal cancer patients in China. | Cheng Y et al. | β | 2010 | β |
| Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. | BΓ€umer D et al. | β | 2010 | β |
| Large intron 14 rearrangement in APC results in splice defect and attenuated FAP. | Tuohy TM et al. | β | 2010 | β |
| Lost in the space of bioinformatic tools: a constantly updated survival guide for genetic epidemiology. The GenEpi Toolbox. | Coassin S et al. | β | 2010 | β |
| Missense mutations in the AFG3L2 proteolytic domain account for βΌ1.5% of European autosomal dominant cerebellar ataxias. | Cagnoli C et al. | β | 2010 | β |
| MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. | BorrΓ s E et al. | β | 2010 | β |
| Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7. | Machiavelli GA et al. | β | 2010 | β |
| Multiple ASF/SF2 sites in the human papillomavirus type 16 (HPV-16) E4-coding region promote splicing to the most commonly used 3'-splice site on the HPV-16 genome. | Somberg M et al. | β | 2010 | β |
| Mutational screening of VSX1 in keratoconus patients from the European population. | Dash DP et al. | β | 2010 | β |
| Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. | Littink KW et al. | β | 2010 | β |
| Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis. | Mello MP et al. | β | 2010 | β |
| Novel sequence variations in LAMA2 andSGCG genes modulating cis-acting regulatory elements and RNA secondary structure. | Siala O et al. | β | 2010 | β |
| Overlapping splicing regulatory motifs--combinatorial effects on splicing. | Goren A et al. | β | 2010 | β |
| Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations. | Forrest S et al. | β | 2010 | β |
| Regulation of splicing enhancer activities by RNA secondary structures. | Liu W et al. | β | 2010 | β |
| Role of SFRS13A in low-density lipoprotein receptor splicing. | Ling IF et al. | β | 2010 | β |
| Serine- and arginine-rich proteins 55 and 75 (SRp55 and SRp75) induce production of HIV-1 vpr mRNA by inhibiting the 5'-splice site of exon 3. | Tranell A et al. | β | 2010 | β |
| SFmap: a web server for motif analysis and prediction of splicing factor binding sites. | Paz I et al. | β | 2010 | β |
| Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations. | Riccardi F et al. | β | 2010 | β |
| SPOT: a web-based tool for using biological databases to prioritize SNPs after a genome-wide association study. | Saccone SF et al. | β | 2010 | β |
| Statistical analysis strategies for association studies involving rare variants. | Bansal V et al. | β | 2010 | β |
| Subtle discrepancies of SF2/ASF ESE sequence motif among human tissues: A computational approach. | Siala O et al. | β | 2010 | β |
| Support for a bipolar affective disorder susceptibility locus on chromosome 12q24.3. | ButtenschΓΈn HN et al. | β | 2010 | β |
| Synonymous polymorphisms at splicing regulatory sites are associated with CpGs in neurodegenerative disease-related genes. | Karambataki M et al. | β | 2010 | β |
| The A-repeat links ASF/SF2-dependent Xist RNA processing with random choice during X inactivation. | Royce-Tolland ME et al. | β | 2010 | β |
| The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria. | Homolova K et al. | β | 2010 | β |
| The intronic splicing code: multiple factors involved in ATM pseudoexon definition. | Dhir A et al. | β | 2010 | β |
| The waved with open eyelids (woe) locus is a hypomorphic mouse mutation in Adam17. | Hassemer EL et al. | β | 2010 | β |
| TNF receptor-associated periodic fever syndrome caused by sequence alterations in exonic splicing enhancers: comment on the article by TrΓΌbenbach et al. | Martorana D et al. | β | 2010 | β |
| Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. | Richards-Yutz J et al. | β | 2010 | β |
| Vitamin A metabolite, all-trans-retinoic acid, mediates alternative splicing of protein kinase C deltaVIII (PKCdeltaVIII) isoform via splicing factor SC35. | Apostolatos H et al. | β | 2010 | β |
| Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping. | Divina P et al. | β | 2009 | β |
| A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology. | Kazakov DV et al. | β | 2009 | β |
| A computational approach for genome-wide mapping of splicing factor binding sites. | Akerman M et al. | β | 2009 | β |
| A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. | Davis RL et al. | β | 2009 | β |
| Adenovirus E4orf4 induces HPV-16 late L1 mRNA production. | Somberg M et al. | β | 2009 | β |
| ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. | Burgess R et al. | β | 2009 | β |
| A family of splice variants of CstF-64 expressed in vertebrate nervous systems. | Shankarling GS et al. | β | 2009 | β |
| Alu exonization events reveal features required for precise recognition of exons by the splicing machinery. | Schwartz S et al. | β | 2009 | β |
| A mechanism for low penetrance in an ALS family with a novel SOD1 deletion. | Zinman L et al. | β | 2009 | β |
| A missense mutation in CASK causes FG syndrome in an Italian family. | Piluso G et al. | β | 2009 | β |
| A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14. | GonΓ§alves V et al. | β | 2009 | β |
| Analysis of 17beta-hydroxysteroid dehydrogenase types 5, 7, and 12 genetic sequence variants in breast cancer cases from French Canadian Families with high risk of breast and ovarian cancer. | Plourde M et al. | β | 2009 | β |
| Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort. | Ticozzi N et al. | β | 2009 | β |
| Analytical methods for inferring functional effects of single base pair substitutions in human cancers. | Lee W et al. | β | 2009 | β |
| An integrative scoring system for ranking SNPs by their potential deleterious effects. | Lee PH et al. | β | 2009 | β |
| A novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity. | Dittmar M et al. | β | 2009 | β |
| Antagonistic SR proteins regulate alternative splicing of tumor-related Rac1b downstream of the PI3-kinase and Wnt pathways. | GonΓ§alves V et al. | β | 2009 | β |
| Antisense-mediated exon skipping to correct IL-12Rbeta1 deficiency in T cells. | van de Vosse E et al. | β | 2009 | β |
| A partial form of recessive STAT1 deficiency in humans. | Chapgier A et al. | β | 2009 | β |
| A positive modifier of spinal muscular atrophy in the SMN2 gene. | Prior TW et al. | β | 2009 | β |
| Arsenic metabolism is influenced by polymorphisms in genes involved in one-carbon metabolism and reduction reactions. | SchlΓ€wicke EngstrΓΆm K et al. | β | 2009 | β |
| Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer. | Raitila A et al. | β | 2009 | β |
| A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. | Macaya D et al. | β | 2009 | β |
| Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis. | Callahan N et al. | β | 2009 | β |
| By-passing the nonsense mutation in the 4 CV mouse model of muscular dystrophy by induced exon skipping. | Mitrpant C et al. | β | 2009 | β |
| Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping. | Madden HR et al. | β | 2009 | β |
| Characterization of a novel splicing variant in the RAPTOR gene. | Sun C et al. | β | 2009 | β |
| Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. | Choi M et al. | β | 2009 | β |
| Comparative component analysis of exons with different splicing frequencies. | Song S et al. | β | 2009 | β |
| Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. | Stucki M et al. | β | 2009 | β |
| Design of phosphorodiamidate morpholino oligomers (PMOs) for the induction of exon skipping of the human DMD gene. | Popplewell LJ et al. | β | 2009 | β |
| Effects of a synonymous variant in exon 9 of the CD44 gene on pre-mRNA splicing in a family with osteoporosis. | Vidal C et al. | β | 2009 | β |
| Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation. | Tamanaha R et al. | β | 2009 | β |
| Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease. | Wang K et al. | β | 2009 | β |
| Exon skipping-mediated dystrophin reading frame restoration for small mutations. | Spitali P et al. | β | 2009 | β |
| Fine mapping of an epilepsy modifier gene on mouse Chromosome 19. | Bergren SK et al. | β | 2009 | β |
| Fine-scale variation and genetic determinants of alternative splicing across individuals. | Coulombe-Huntington J et al. | β | 2009 | β |
| Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. | Mitui M et al. | β | 2009 | β |
| Genome-wide prediction of cis-acting RNA elements regulating tissue-specific pre-mRNA alternative splicing. | Wang X et al. | β | 2009 | β |
| Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms. | Aartsma-Rus A et al. | β | 2009 | β |
| Heterogeneous nuclear ribonucleoprotein K represses the production of pro-apoptotic Bcl-xS splice isoform. | Revil T et al. | β | 2009 | β |
| Heterogeneous nuclear ribonucleoproteins H and F regulate the proteolipid protein/DM20 ratio by recruiting U1 small nuclear ribonucleoprotein through a complex array of G runs. | Wang E et al. | β | 2009 | β |
| High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease. | Duno M et al. | β | 2009 | β |
| Human Splicing Finder: an online bioinformatics tool to predict splicing signals. | Desmet FO et al. | β | 2009 | β |
| Identification, characterization and expression of novel Sex Hormone Binding Globulin alternative first exons in the human prostate. | PinΓ³s T et al. | β | 2009 | β |
| Identification of a cis-acting element involved in the regulation of BACE1 mRNA alternative splicing. | Mowrer KR et al. | β | 2009 | β |
| Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. | De Rosa M et al. | β | 2009 | β |
| Intron 7 conserved sequence elements regulate the splicing of the SMN genes. | Gladman JT et al. | β | 2009 | β |
| Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs. | Vreeswijk MP et al. | β | 2009 | β |
| In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene. | Habara Y et al. | β | 2009 | β |
| Li-Fraumeni and Li-Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements. | Kouidou S et al. | β | 2009 | β |
| Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations. | van den Akker PC et al. | β | 2009 | β |
| Low U1 snRNP dependence at the NF1 exon 29 donor splice site. | Raponi M et al. | β | 2009 | β |
| MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1. | Kino Y et al. | β | 2009 | β |
| Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. | Byrne JA et al. | β | 2009 | β |
| Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III. | Zarghooni M et al. | β | 2009 | β |
| Mutation analysis in primary immunodeficiency diseases: case studies. | Hsu AP et al. | β | 2009 | β |
| Mutations of the cyclin A1 gene are not a common cause of male infertility. | Zhoucun A et al. | β | 2009 | β |
| Next generation tools for the annotation of human SNPs. | Karchin R | β | 2009 | β |
| Nkcc1 (Slc12a2) is required for the regulation of endolymph volume in the otic vesicle and swim bladder volume in the zebrafish larva. | Abbas L et al. | β | 2009 | β |
| No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation. | Bernier-Latmani J et al. | β | 2009 | β |
| Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. | Tan YC et al. | β | 2009 | β |
| Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1. | Tosetto E et al. | β | 2009 | β |
| Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome. | Megremis S et al. | β | 2009 | β |
| PIN1 gene variants in Alzheimer's disease. | Maruszak A et al. | β | 2009 | β |
| Polymorphisms in p53 and the p53 pathway: roles in cancer susceptibility and response to treatment. | Hrstka R et al. | β | 2009 | β |
| Polypyrimidine tract binding protein prevents activity of an intronic regulatory element that promotes usage of a composite 3'-terminal exon. | Anquetil V et al. | β | 2009 | β |
| Predicting potentially functional SNPs in drug-response genes. | Pang GS et al. | β | 2009 | β |
| Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation. | Madej-Pilarczyk A et al. | β | 2009 | β |
| Rational design of antisense oligomers to induce dystrophin exon skipping. | Mitrpant C et al. | β | 2009 | β |
| Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. | Gestri G et al. | β | 2009 | β |
| Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. | Willer CJ et al. | β | 2009 | β |
| SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies. | Xu Z et al. | β | 2009 | β |
| SpliceAid: a database of experimental RNA target motifs bound by splicing proteins in humans. | Piva F et al. | β | 2009 | β |
| Splicing, cis genetic variation and disease. | Jensen CJ et al. | β | 2009 | β |
| Splicing factor ASF/SF2 and transcription factor PPAR-gamma cooperate to directly regulate transcription of uncoupling protein-3. | Kim DJ et al. | β | 2009 | β |
| Splicing of designer exons reveals unexpected complexity in pre-mRNA splicing. | Zhang XH et al. | β | 2009 | β |
| Splicing therapeutics in SMN2 and APOB. | Khoo B et al. | β | 2009 | β |
| Squalene synthase: a critical enzyme in the cholesterol biosynthesis pathway. | Do R et al. | β | 2009 | β |
| SROOGLE: webserver for integrative, user-friendly visualization of splicing signals. | Schwartz S et al. | β | 2009 | β |
| Support for tryptophan hydroxylase-2 as a susceptibility gene for bipolar affective disorder. | Roche S et al. | β | 2009 | β |
| Systematic evaluation of the effect of common SNPs on pre-mRNA splicing. | ElSharawy A et al. | β | 2009 | β |
| The pivotal roles of TIA proteins in 5' splice-site selection of alu exons and across evolution. | Gal-Mark N et al. | β | 2009 | β |
| The SR protein family of splicing factors: master regulators of gene expression. | Long JC et al. | β | 2009 | β |
| Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer. | Desjardins S et al. | β | 2009 | β |
| Vitamin D related genes, CYP24A1 and CYP27B1, and colon cancer risk. | Dong LM et al. | β | 2009 | β |
| A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. | Arnoldi A et al. | β | 2008 | β |
| A common RET variant is associated with reduced newborn kidney size and function. | Zhang Z et al. | β | 2008 | β |
| ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. | Lagier-Tourenne C et al. | β | 2008 | β |
| A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. | Tournier I et al. | β | 2008 | β |
| Alternative approach to a heavy weight problem. | Goren A et al. | β | 2008 | β |
| Alternative splicing and tumor progression. | Ghigna C et al. | β | 2008 | β |
| Alternative splicing of Alu exons--two arms are better than one. | Gal-Mark N et al. | β | 2008 | β |
| Alternative splicing of the mouse embryonic poly(A) binding protein (Epab) mRNA is regulated by an exonic splicing enhancer: a model for post-transcriptional control of gene expression in the oocyte. | Seli E et al. | β | 2008 | β |
| Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes. | Palomino-Doza J et al. | β | 2008 | β |
| An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II. | Tappino B et al. | β | 2008 | β |
| Analysis of GADD45A sequence variations in French Canadian families with high risk of breast cancer. | Desjardins S et al. | β | 2008 | β |
| An anomalous haplotype distribution of the arrestin domain-containing 4 gene (ARRDC4) haplotypes in Caucasians. | Knoll B et al. | β | 2008 | β |
| Association of single nucleotide polymorphisms in interferon signaling pathway genes and interferon-stimulated genes with the response to interferon therapy for chronic hepatitis C. | Su X et al. | β | 2008 | β |
| Association of TMPRSS2-ERG gene fusion with clinical characteristics and outcomes: results from a population-based study of prostate cancer. | FitzGerald LM et al. | β | 2008 | β |
| A TaqI PCR-RFLP detecting a novel SNP in exon 2 of the bovine POU1F1 gene. | Pan C et al. | β | 2008 | β |
| Automatic detection of exonic splicing enhancers (ESEs) using SVMs. | Mersch B et al. | β | 2008 | β |
| Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). | Schlang KJ et al. | β | 2008 | β |
| Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant. | Goina E et al. | β | 2008 | β |
| Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. | Orten DJ et al. | β | 2008 | β |
| Calculation of splicing potential from the Alternative Splicing Mutation Database. | Bechtel JM et al. | β | 2008 | β |
| Characterization of HSD17B1 sequence variants in breast cancer cases from French Canadian families with high risk of breast and ovarian cancer. | Plourde M et al. | β | 2008 | β |
| Characterization of regulatory intronic and exonic sequences involved in alternative splicing of scavenger receptor class B gene. | Zhang X et al. | β | 2008 | β |
| Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. | Spearman AD et al. | β | 2008 | β |
| CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype. | Bessa C et al. | β | 2008 | β |
| Computational analysis of splicing errors and mutations in human transcripts. | Kurmangaliyev YZ et al. | β | 2008 | β |
| Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. | Zhu Y et al. | β | 2008 | β |
| Differences in gonadotropin-regulated testicular helicase (GRTH/DDX25) single nucleotide polymorphism between Japanese and Chinese populations. | Tsai-Morris CH et al. | β | 2008 | β |
| DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy. | Gurvich OL et al. | β | 2008 | β |
| Dynamics of co-transcriptional pre-mRNA folding influences the induction of dystrophin exon skipping by antisense oligonucleotides. | Wee KB et al. | β | 2008 | β |
| Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes. | Nishiyama A et al. | β | 2008 | β |
| Epstein-Barr virus SM protein functions as an alternative splicing factor. | Verma D et al. | β | 2008 | β |
| Evaluation of in silico splice tools for decision-making in molecular diagnosis. | Houdayer C et al. | β | 2008 | β |
| Expression of a GRM3 splice variant is increased in the dorsolateral prefrontal cortex of individuals carrying a schizophrenia risk SNP. | Sartorius LJ et al. | β | 2008 | β |
| Fibroblast growth factor 4 and its novel splice isoform have opposing effects on the maintenance of human embryonic stem cell self-renewal. | Mayshar Y et al. | β | 2008 | β |
| F-SNP: computationally predicted functional SNPs for disease association studies. | Lee PH et al. | β | 2008 | β |
| Genetic diagnosis of primary immune deficiencies. | Morra M et al. | β | 2008 | β |
| Genetic variation in calcium-sensing receptor and risk for colon cancer. | Dong LM et al. | β | 2008 | β |
| Genome-wide survey of allele-specific splicing in humans. | Nembaware V et al. | β | 2008 | β |
| Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically. | Solis AS et al. | β | 2008 | β |
| hnRNP H and hnRNP F complex with Fox2 to silence fibroblast growth factor receptor 2 exon IIIc. | Mauger DM et al. | β | 2008 | β |
| Identification of ARHGEF17, DENND2D, FGFR3, and RB1 mutations in melanoma by inhibition of nonsense-mediated mRNA decay. | Bloethner S et al. | β | 2008 | β |
| Insights into the selective activation of alternatively used splice acceptors by the human immunodeficiency virus type-1 bidirectional splicing enhancer. | Asang C et al. | β | 2008 | β |
| Intrasplicing coordinates alternative first exons with alternative splicing in the protein 4.1R gene. | Parra MK et al. | β | 2008 | β |
| Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract. | Burdon KP et al. | β | 2008 | β |
| Leber congenital amaurosis: genes, proteins and disease mechanisms. | den Hollander AI et al. | β | 2008 | β |
| Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. | McAlinden A et al. | β | 2008 | β |
| Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. | Hadfield KD et al. | β | 2008 | β |
| Mutational analysis of SHH and GLI3 in anorectal malformations. | Garcia-BarcelΓ³ MM et al. | β | 2008 | β |
| Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families. | GuΓ©nard F et al. | β | 2008 | β |
| Mutation screening and association study of the TSSK4 Gene in Chinese infertile men with impaired spermatogenesis. | Su D et al. | β | 2008 | β |
| Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. | Skinningsrud B et al. | β | 2008 | β |
| Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. | Bakrania P et al. | β | 2008 | β |
| New sequence variants in BRCA1 and BRCA2 genes detected by high-resolution melting analysis in an elderly healthy female population in Croatia. | Cvok ML et al. | β | 2008 | β |
| Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. | Oliveira J et al. | β | 2008 | β |
| Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. | Skibola CF et al. | β | 2008 | β |
| Quantitative analysis of clinically relevant mutations occurring in lymphoid cells harboring gamma-retrovirus-encoded hsvtk suicide genes. | Wang X et al. | β | 2008 | β |
| Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. | Ramser J et al. | β | 2008 | β |
| Sequence variants of alpha-methylacyl-CoA racemase are associated with prostate cancer risk: a replication study in an ethnically homogeneous population. | FitzGerald LM et al. | β | 2008 | β |
| Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions. | Ho PY et al. | β | 2008 | β |
| Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene. | Innocenti F et al. | β | 2008 | β |
| Slc11a1 (formerly Nramp1) and susceptibility to canine visceral leishmaniasis. | Sanchez-Robert E et al. | β | 2008 | β |
| Some single nucleotide polymorphisms of MSY2 gene might contribute to susceptibility to spermatogenic impairment in idiopathic infertile men. | Deng Y et al. | β | 2008 | β |
| Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. | Watase K et al. | β | 2008 | β |
| Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. | Wang Z et al. | β | 2008 | β |
| Strategies for identifying RNA splicing regulatory motifs and predicting alternative splicing events. | Holste D et al. | β | 2008 | β |
| The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. | Pedersen CB et al. | β | 2008 | β |
| The Alternative Splicing Mutation Database: a hub for investigations of alternative splicing using mutational evidence. | Bechtel JM et al. | β | 2008 | β |
| TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. | Savage SA et al. | β | 2008 | β |
| TPH2 and TPH1: association of variants and interactions with heroin addiction. | Nielsen DA et al. | β | 2008 | β |
| Two novel Mesocestoides vogae fatty acid binding proteins--functional and evolutionary implications. | Alvite G et al. | β | 2008 | β |
| Two polymorphisms of presenilin-2 gene (PSEN2) 5' regulatory region are not associated with Alzheimer's disease (AD) in the Polish population. | Gacia M et al. | β | 2008 | β |
| Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency. | Svaasand EK et al. | β | 2007 | β |
| An intronic signal for alternative splicing in the human genome. | Havlioglu N et al. | β | 2007 | β |
| Features generated for computational splice-site prediction correspond to functional elements. | Dogan RI et al. | β | 2007 | β |
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