Published in Nat Rev Genet on April 01, 2002
ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res (2003) 12.81
Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans. Proc Natl Acad Sci U S A (2002) 10.28
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res (2009) 10.08
Expansion of the eukaryotic proteome by alternative splicing. Nature (2010) 8.84
RNA and disease. Cell (2009) 7.98
Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. RNA (2008) 6.29
Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet (2004) 6.15
Variation in alternative splicing across human tissues. Genome Biol (2004) 5.70
Tissue-specific genetic control of splicing: implications for the study of complex traits. PLoS Biol (2008) 5.08
Intronic sequences flanking alternatively spliced exons are conserved between human and mouse. Genome Res (2003) 5.01
A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer. Nat Med (2012) 4.90
Finding signals that regulate alternative splicing in the post-genomic era. Genome Biol (2002) 4.73
Computational definition of sequence motifs governing constitutive exon splicing. Genes Dev (2004) 4.59
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods (2010) 4.51
Alternative splicing and evolution: diversification, exon definition and function. Nat Rev Genet (2010) 4.30
Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2. Genes Dev (2008) 4.24
Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities. Nucleic Acids Res (2005) 4.06
Understanding the contribution of synonymous mutations to human disease. Nat Rev Genet (2011) 3.82
RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons. Nucleic Acids Res (2004) 3.70
Variation in sequence and organization of splicing regulatory elements in vertebrate genes. Proc Natl Acad Sci U S A (2004) 3.34
Distribution and characterization of regulatory elements in the human genome. Genome Res (2002) 3.34
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet (2008) 3.24
Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet (2004) 3.21
Quantitative microarray profiling provides evidence against widespread coupling of alternative splicing with nonsense-mediated mRNA decay to control gene expression. Genes Dev (2006) 3.18
Splicing in action: assessing disease causing sequence changes. J Med Genet (2005) 3.07
Influence of RNA secondary structure on the pre-mRNA splicing process. Mol Cell Biol (2004) 3.07
PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes. Nucleic Acids Res (2006) 3.04
Snap: an integrated SNP annotation platform. Nucleic Acids Res (2006) 2.99
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet (2005) 2.86
Single nucleotide polymorphism-based validation of exonic splicing enhancers. PLoS Biol (2004) 2.77
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet (2003) 2.72
Alternative splicing events identified in human embryonic stem cells and neural progenitors. PLoS Comput Biol (2007) 2.71
Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci U S A (2003) 2.65
A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs. Am J Hum Genet (2009) 2.62
Discovery and analysis of evolutionarily conserved intronic splicing regulatory elements. PLoS Genet (2007) 2.60
The genetic code is nearly optimal for allowing additional information within protein-coding sequences. Genome Res (2007) 2.56
A combinatorial code for splicing silencing: UAGG and GGGG motifs. PLoS Biol (2005) 2.48
Selection on human genes as revealed by comparisons to chimpanzee cDNA. Genome Res (2003) 2.48
RegRNA: an integrated web server for identifying regulatory RNA motifs and elements. Nucleic Acids Res (2006) 2.43
Conservation of human alternative splice events in mouse. Nucleic Acids Res (2003) 2.35
Intronic CA-repeat and CA-rich elements: a new class of regulators of mammalian alternative splicing. EMBO J (2005) 2.30
Antagonistic role of hnRNP A1 and KSRP in the regulation of let-7a biogenesis. Nat Struct Mol Biol (2010) 2.30
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet (2005) 2.29
Retracted A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet (2011) 2.25
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. Arch Neurol (2010) 2.19
Efficient in vivo gene expression by trans-splicing adeno-associated viral vectors. Nat Biotechnol (2005) 2.16
A non-EST-based method for exon-skipping prediction. Genome Res (2004) 2.15
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci U S A (2005) 2.12
Regulation of alternative RNA splicing by exon definition and exon sequences in viral and mammalian gene expression. J Biomed Sci (2004) 2.11
GATA4 sequence variants in patients with congenital heart disease. J Med Genet (2007) 2.08
Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. Am J Hum Genet (2007) 2.04
Exon inclusion is dependent on predictable exonic splicing enhancers. Mol Cell Biol (2005) 2.02
Global analysis of alternative splicing differences between humans and chimpanzees. Genes Dev (2007) 2.00
Nova autoregulation reveals dual functions in neuronal splicing. EMBO J (2005) 1.97
Investigating the genetic association between ERAP1 and ankylosing spondylitis. Hum Mol Genet (2009) 1.95
Sequence conservation, relative isoform frequencies, and nonsense-mediated decay in evolutionarily conserved alternative splicing. Proc Natl Acad Sci U S A (2005) 1.93
Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res (2006) 1.89
Evidence of functional selection pressure for alternative splicing events that accelerate evolution of protein subsequences. Proc Natl Acad Sci U S A (2005) 1.88
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet (2004) 1.88
Dilated cardiomyopathy caused by tissue-specific ablation of SC35 in the heart. EMBO J (2004) 1.88
The splicing factor SRSF1 regulates apoptosis and proliferation to promote mammary epithelial cell transformation. Nat Struct Mol Biol (2012) 1.88
Large-scale comparative analysis of splicing signals and their corresponding splicing factors in eukaryotes. Genome Res (2007) 1.86
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet (2008) 1.86
Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes. Nucleic Acids Res (2006) 1.84
Serine/arginine-rich protein-dependent suppression of exon skipping by exonic splicing enhancers. Proc Natl Acad Sci U S A (2005) 1.83
BRCA2 T2722R is a deleterious allele that causes exon skipping. Am J Hum Genet (2002) 1.80
SF2/ASF autoregulation involves multiple layers of post-transcriptional and translational control. Nat Struct Mol Biol (2010) 1.78
Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications. RNA (2007) 1.78
PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level. Nucleic Acids Res (2004) 1.74
The expanding transcriptome: the genome as the 'Book of Sand'. EMBO J (2006) 1.73
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res (2007) 1.71
Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes. Nucleic Acids Res (2005) 1.70
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Mol Psychiatry (2010) 1.69
Determinants of the inherent strength of human 5' splice sites. RNA (2005) 1.69
The PTB interacting protein raver1 regulates alpha-tropomyosin alternative splicing. EMBO J (2003) 1.68
Intrinsic differences between authentic and cryptic 5' splice sites. Nucleic Acids Res (2003) 1.66
HOLLYWOOD: a comparative relational database of alternative splicing. Nucleic Acids Res (2006) 1.66
CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet (2007) 1.65
In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes. RNA (2004) 1.60
Mechanisms and Regulation of Alternative Pre-mRNA Splicing. Annu Rev Biochem (2015) 1.59
A partial form of recessive STAT1 deficiency in humans. J Clin Invest (2009) 1.59
A comprehensive computational characterization of conserved mammalian intronic sequences reveals conserved motifs associated with constitutive and alternative splicing. Genome Res (2007) 1.58
A class of human exons with predicted distant branch points revealed by analysis of AG dinucleotide exclusion zones. Genome Biol (2006) 1.56
A novel tissue inhibitor of metalloproteinase-1 (TIMP-1) polymorphism associated with asthma in Australian women. Thorax (2005) 1.55
An intronic element contributes to splicing repression in spinal muscular atrophy. Proc Natl Acad Sci U S A (2007) 1.55
A common polymorphism decreases low-density lipoprotein receptor exon 12 splicing efficiency and associates with increased cholesterol. Hum Mol Genet (2007) 1.55
A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: general principles and overview. Hum Genet (2006) 1.55
RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon. Mol Cell Biol (2004) 1.54
Coevolutionary networks of splicing cis-regulatory elements. Proc Natl Acad Sci U S A (2007) 1.54
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. PLoS Genet (2016) 1.53
A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation. Genome Res (2005) 1.52
Genome-wide analysis of alternative pre-mRNA splicing and RNA-binding specificities of the Drosophila hnRNP A/B family members. Mol Cell (2009) 1.52
Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet (2003) 1.52
SON controls cell-cycle progression by coordinated regulation of RNA splicing. Mol Cell (2011) 1.52
A highly conserved program of neuronal microexons is misregulated in autistic brains. Cell (2014) 1.50
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am J Hum Genet (2007) 1.50
Using bioinformatics to predict the functional impact of SNVs. Bioinformatics (2010) 1.49
Splicing factor hnRNPH drives an oncogenic splicing switch in gliomas. EMBO J (2011) 1.49
Antitumorigenic potential of STAT3 alternative splicing modulation. Proc Natl Acad Sci U S A (2011) 1.48
Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms. Mol Ther (2008) 1.48
ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res (2003) 12.81
The gene encoding the splicing factor SF2/ASF is a proto-oncogene. Nat Struct Mol Biol (2007) 6.16
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet (2002) 5.80
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet (2006) 4.56
Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2. Genes Dev (2008) 4.24
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature (2011) 4.04
Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol (2003) 3.75
RNA therapeutics: beyond RNA interference and antisense oligonucleotides. Nat Rev Drug Discov (2012) 3.70
Comprehensive splice-site analysis using comparative genomics. Nucleic Acids Res (2006) 3.30
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet (2008) 3.24
The alternative splicing repressors hnRNP A1/A2 and PTB influence pyruvate kinase isoform expression and cell metabolism. Proc Natl Acad Sci U S A (2010) 3.08
SR proteins function in coupling RNAP II transcription to pre-mRNA splicing. Mol Cell (2007) 3.04
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev (2010) 3.02
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum Mutat (2010) 2.75
Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Sci Transl Med (2011) 2.56
Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol (2007) 2.29
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet (2005) 2.29
Manipulation of alternative splicing by a newly developed inhibitor of Clks. J Biol Chem (2004) 2.26
Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis. Mol Cell Proteomics (2008) 2.24
Nuclear export and retention signals in the RS domain of SR proteins. Mol Cell Biol (2002) 2.04
The splicing factor SRSF1 regulates apoptosis and proliferation to promote mammary epithelial cell transformation. Nat Struct Mol Biol (2012) 1.88
Involvement of SR proteins in mRNA surveillance. Mol Cell (2004) 1.84
BRCA2 T2722R is a deleterious allele that causes exon skipping. Am J Hum Genet (2002) 1.80
SF2/ASF autoregulation involves multiple layers of post-transcriptional and translational control. Nat Struct Mol Biol (2010) 1.78
A rational nomenclature for serine/arginine-rich protein splicing factors (SR proteins). Genes Dev (2010) 1.77
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res (2007) 1.71
A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet (2009) 1.70
Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes. Nucleic Acids Res (2005) 1.70
Determinants of the inherent strength of human 5' splice sites. RNA (2005) 1.69
Intrinsic differences between authentic and cryptic 5' splice sites. Nucleic Acids Res (2003) 1.66
Regulation of heterogenous nuclear ribonucleoprotein A1 transport by phosphorylation in cells stressed by osmotic shock. Proc Natl Acad Sci U S A (2005) 1.65
The value of the low-dose dexamethasone suppression test in the differential diagnosis of hyperandrogenism in women. J Clin Endocrinol Metab (2003) 1.61
Discriminatory value of the low-dose dexamethasone suppression test in establishing the diagnosis and differential diagnosis of Cushing's syndrome. J Clin Endocrinol Metab (2003) 1.60
A splicing-independent function of SF2/ASF in microRNA processing. Mol Cell (2010) 1.55
Unmasking of central hypothyroidism following growth hormone replacement in adult hypopituitary patients. Clin Endocrinol (Oxf) (2007) 1.50
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am J Hum Genet (2007) 1.50
hnRNP A1 associates with telomere ends and stimulates telomerase activity. RNA (2006) 1.50
Two proteins essential for apolipoprotein B mRNA editing are expressed from a single gene through alternative splicing. J Biol Chem (2002) 1.50
RNA landscape of evolution for optimal exon and intron discrimination. Proc Natl Acad Sci U S A (2008) 1.45
The splicing-factor oncoprotein SF2/ASF activates mTORC1. Proc Natl Acad Sci U S A (2008) 1.42
Interaction between the RNA binding domains of Ser-Arg splicing factor 1 and U1-70K snRNP protein determines early spliceosome assembly. Proc Natl Acad Sci U S A (2011) 1.42
An exonic splicing enhancer in human IGF-I pre-mRNA mediates recognition of alternative exon 5 by the serine-arginine protein splicing factor-2/alternative splicing factor. Endocrinology (2002) 1.42
SpliceTrap: a method to quantify alternative splicing under single cellular conditions. Bioinformatics (2011) 1.42
OLego: fast and sensitive mapping of spliced mRNA-Seq reads using small seeds. Nucleic Acids Res (2013) 1.41
Pick one, but be quick: 5' splice sites and the problems of too many choices. Genes Dev (2013) 1.39
Cooperative-binding and splicing-repressive properties of hnRNP A1. Mol Cell Biol (2009) 1.37
Oncogenic splicing factor SRSF1 is a critical transcriptional target of MYC. Cell Rep (2012) 1.36
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. Hum Mutat (2004) 1.35
A novel histone exchange factor, protein phosphatase 2Cgamma, mediates the exchange and dephosphorylation of H2A-H2B. J Cell Biol (2006) 1.34
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites. Nat Struct Mol Biol (2004) 1.33
Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers. Clin Endocrinol (Oxf) (2008) 1.32
Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med (2009) 1.30
CT and MR imaging of unusual locations of extra-adrenal paragangliomas (pheochromocytomas). Eur Radiol (2004) 1.29
Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65). PLoS One (2007) 1.28
Antisense-based therapy for the treatment of spinal muscular atrophy. J Cell Biol (2012) 1.25
Splicing remodels messenger ribonucleoprotein architecture via eIF4A3-dependent and -independent recruitment of exon junction complex components. Proc Natl Acad Sci U S A (2007) 1.24
Synthetic oligonucleotides recruit ILF2/3 to RNA transcripts to modulate splicing. Nat Chem Biol (2012) 1.22
Alternative splicing of SLC39A14 in colorectal cancer is regulated by the Wnt pathway. Mol Cell Proteomics (2010) 1.22
Alternative splicing regulation by interaction of phosphatase PP2Cgamma with nucleic acid-binding protein YB-1. Nat Struct Mol Biol (2007) 1.21
Decrease in hnRNP A/B expression during erythropoiesis mediates a pre-mRNA splicing switch. EMBO J (2002) 1.19
Recognition of atypical 5' splice sites by shifted base-pairing to U1 snRNA. Nat Struct Mol Biol (2009) 1.16
Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics. Genome Res (2007) 1.16
A generalizable pre-clinical research approach for orphan disease therapy. Orphanet J Rare Dis (2012) 1.16
Alternative splicing of the adenylyl cyclase stimulatory G-protein G alpha(s) is regulated by SF2/ASF and heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1) and involves the use of an unusual TG 3'-splice Site. J Biol Chem (2002) 1.14
Human immunodeficiency virus type 1 hnRNP A/B-dependent exonic splicing silencer ESSV antagonizes binding of U2AF65 to viral polypyrimidine tracts. Mol Cell Biol (2003) 1.14
Dual-specificity splice sites function alternatively as 5' and 3' splice sites. Proc Natl Acad Sci U S A (2007) 1.10
Splicing-factor oncoprotein SRSF1 stabilizes p53 via RPL5 and induces cellular senescence. Mol Cell (2013) 1.10
Identification of synaptic targets of Drosophila pumilio. PLoS Comput Biol (2008) 1.10
Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours. Endocr Relat Cancer (2009) 1.09
Mechanisms of activation and repression by the alternative splicing factors RBFOX1/2. RNA (2011) 1.08
Exon-centric regulation of pyruvate kinase M alternative splicing via mutually exclusive exons. J Mol Cell Biol (2011) 1.07
Where in the cell is the minor spliceosome? Proc Natl Acad Sci U S A (2008) 1.03
Arginine methylation controls the subcellular localization and functions of the oncoprotein splicing factor SF2/ASF. Mol Cell Biol (2010) 1.03
Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a. Hum Mutat (2005) 1.01
Nucleolar localization of an isoform of the IGF-I precursor. BMC Cell Biol (2002) 1.00
Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP. RNA (2009) 0.99
Antisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB. BMC Mol Biol (2007) 0.99
Isolated pseudo-RNA-recognition motifs of SR proteins can regulate splicing using a noncanonical mode of RNA recognition. Proc Natl Acad Sci U S A (2013) 0.98
Widespread recognition of 5' splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides. Genes Dev (2012) 0.98
HIV-1 transcription is regulated by splicing factor SRSF1. Nucleic Acids Res (2014) 0.96
The prevalence and characteristic features of cyclicity and variability in Cushing's disease. Eur J Endocrinol (2009) 0.95
The switch in alternative splicing of cyclic AMP-response element modulator protein CREM{tau}2{alpha} (activator) to CREM{alpha} (repressor) in human myometrial cells is mediated by SRp40. J Biol Chem (2005) 0.94
Evolutionary impact of limited splicing fidelity in mammalian genes. Trends Genet (2007) 0.94
Correlated alternative side chain conformations in the RNA-recognition motif of heterogeneous nuclear ribonucleoprotein A1. Nucleic Acids Res (2002) 0.93
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Hum Genet (2005) 0.92
Diagnosis and localisation of insulinoma: the value of modern magnetic resonance imaging in conjunction with calcium stimulation catheterisation. Eur J Endocrinol (2010) 0.92
Manipulation of PK-M mutually exclusive alternative splicing by antisense oligonucleotides. Open Biol (2012) 0.91
Deletion of the N-terminus of SF2/ASF permits RS-domain-independent pre-mRNA splicing. PLoS One (2007) 0.90
Splicing therapeutics in SMN2 and APOB. Curr Opin Mol Ther (2009) 0.89
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. Clin Endocrinol (Oxf) (2013) 0.89
Pathological impact of SMN2 mis-splicing in adult SMA mice. EMBO Mol Med (2013) 0.88
A prospective evaluation of postural stimulation testing, computed tomography and adrenal vein sampling in the differential diagnosis of primary aldosteronism. Clin Endocrinol (Oxf) (2012) 0.87
Long-term remission and recurrence rates in Cushing's disease: predictive factors in a single-centre study. Eur J Endocrinol (2013) 0.87
Diagnosing unilateral primary aldosteronism - comparison of a clinical prediction score, computed tomography and adrenal venous sampling. Clin Endocrinol (Oxf) (2013) 0.87
Pre-spliceosomal binding of U1 small nuclear ribonucleoprotein (RNP) and heterogenous nuclear RNP E1 is associated with suppression of a growth hormone receptor pseudoexon. Mol Endocrinol (2007) 0.86
A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia. Hum Mutat (2011) 0.86