Published in Am J Hum Genet on July 19, 2002
ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res (2003) 12.81
Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res (2009) 10.08
Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes. Nucleic Acids Res (2005) 1.70
Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. Nat Med (2008) 1.47
Genomic features defining exonic variants that modulate splicing. Genome Biol (2010) 1.46
Alternative splicing and tumor progression. Curr Genomics (2008) 1.43
A guide for functional analysis of BRCA1 variants of uncertain significance. Hum Mutat (2012) 1.34
Synonymous SNPs provide evidence for selective constraint on human exonic splicing enhancers. J Mol Evol (2005) 1.26
Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study. Eur J Hum Genet (2009) 1.13
Hereditary breast cancer: the era of new susceptibility genes. Biomed Res Int (2013) 1.01
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. Hum Mol Genet (2008) 1.00
Missense mutations in hMLH1 and hMSH2 are associated with exonic splicing enhancers. Am J Hum Genet (2003) 0.98
Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts. BMC Med Genet (2010) 0.95
RNA splicing: a new player in the DNA damage response. Int J Cell Biol (2013) 0.92
Novel germline variants identified in the inner mitochondrial membrane transporter TIMM44 and their role in predisposition to oncocytic thyroid carcinomas. Br J Cancer (2006) 0.89
BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. Br J Cancer (2004) 0.87
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant. Hum Mutat (2009) 0.86
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. Hum Mol Genet (2015) 0.85
BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma. Fam Cancer (2007) 0.84
Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers. Oncol Lett (2013) 0.81
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. Hum Mutat (2016) 0.78
Mutation analysis in primary immunodeficiency diseases: case studies. Curr Opin Allergy Clin Immunol (2009) 0.76
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification. Int J Mol Sci (2017) 0.75
An ovarian mass after breast cancer: Metachronous carcinoma or metastasis? A case report. Int J Surg Case Rep (2016) 0.75
Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet (2002) 16.29
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet (1998) 15.09
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res (1987) 14.53
Splicing of messenger RNA precursors. Annu Rev Biochem (1986) 14.41
The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med (1997) 13.96
Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet (1994) 9.60
Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst (1999) 6.48
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet (1996) 6.43
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
Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins. Genes Dev (1998) 5.79
When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA (1995) 5.76
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet (2001) 5.02
Distinct functions of SR proteins in alternative pre-mRNA splicing. Science (1993) 4.79
BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med (1997) 4.33
Regulated tissue-specific expression of antagonistic pre-mRNA splicing factors. RNA (1998) 4.05
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet (1997) 3.68
Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet (1998) 3.61
Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. Cancer Epidemiol Biomarkers Prev (1999) 3.29
Exonic splicing enhancer motif recognized by human SC35 under splicing conditions. Mol Cell Biol (2000) 3.01
The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev (2001) 2.87
At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation. Mol Cell Biol (1998) 2.79
Risk models for familial ovarian and breast cancer. Genet Epidemiol (2000) 2.75
Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol (1998) 2.55
Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer. N Engl J Med (1997) 1.97
The RNA binding protein YB-1 binds A/C-rich exon enhancers and stimulates splicing of the CD44 alternative exon v4. EMBO J (2001) 1.92
The association of nonsense codons with exon skipping. Mutat Res (1998) 1.85
Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells. EMBO J (1997) 1.79
A BRCA1 nonsense mutation causes exon skipping. Am J Hum Genet (1998) 1.77
A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res (1997) 1.49
Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. Hum Mol Genet (1997) 1.44
Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res (1999) 1.36
Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet (2000) 1.34
Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. J Clin Invest (1997) 1.27
Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. Hum Mol Genet (1999) 1.24
Nonsense-mediated decay of mRNA for the selenoprotein phospholipid hydroperoxide glutathione peroxidase is detectable in cultured cells but masked or inhibited in rat tissues. Mol Biol Cell (2001) 1.18
Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families. Oncogene (1999) 1.14
An exon splice enhancer mutation causes autosomal dominant GH deficiency. J Clin Endocrinol Metab (2002) 1.11
BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. J Clin Oncol (2002) 1.06
BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1. Br J Cancer (1998) 0.86
Genetic testing for breast cancer susceptibility: frequency of BRCA1 and BRCA2 mutations. Genet Test (1997) 0.81
Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet (2002) 16.29
ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res (2003) 12.81
The molecular portraits of breast tumors are conserved across microarray platforms. BMC Genomics (2006) 12.45
Identification of conserved gene expression features between murine mammary carcinoma models and human breast tumors. Genome Biol (2007) 10.49
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA (2010) 8.93
Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med (2002) 8.09
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet (2008) 7.65
Phenotypic evaluation of the basal-like subtype of invasive breast carcinoma. Mod Pathol (2006) 6.86
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
Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol (2004) 5.38
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
Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. JAMA (2006) 4.09
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature (2011) 4.04
Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol (2004) 3.86
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
RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet (2007) 3.63
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet (2008) 3.41
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
Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer (2007) 3.02
Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol (2006) 3.02
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev (2010) 3.02
Classification and risk stratification of invasive breast carcinomas using a real-time quantitative RT-PCR assay. Breast Cancer Res (2006) 2.95
Population differences in breast cancer: survey in indigenous African women reveals over-representation of triple-negative breast cancer. J Clin Oncol (2009) 2.88
Pathologic complete response predicts recurrence-free survival more effectively by cancer subset: results from the I-SPY 1 TRIAL--CALGB 150007/150012, ACRIN 6657. J Clin Oncol (2012) 2.85
Chemotherapy response and recurrence-free survival in neoadjuvant breast cancer depends on biomarker profiles: results from the I-SPY 1 TRIAL (CALGB 150007/150012; ACRIN 6657). Breast Cancer Res Treat (2011) 2.73
Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol (2005) 2.70
Transforming epidemiology for 21st century medicine and public health. Cancer Epidemiol Biomarkers Prev (2013) 2.56
Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Sci Transl Med (2011) 2.56
Estrogen receptor status in BRCA1- and BRCA2-related breast cancer: the influence of age, grade, and histological type. Clin Cancer Res (2004) 2.51
Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage I/II breast cancer. J Clin Oncol (2006) 2.49
Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO. J Natl Cancer Inst (2002) 2.45
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet (2013) 2.39
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
Molecular-cytogenetic analysis of HER-2/neu gene in BRCA1-associated breast cancers. Cancer Res (2002) 2.25
Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis. Mol Cell Proteomics (2008) 2.24
Basal-like Breast cancer DNA copy number losses identify genes involved in genomic instability, response to therapy, and patient survival. Breast Cancer Res Treat (2011) 2.23
Hormone replacement therapy and breast cancer: heterogeneous risks by race, weight, and breast density. J Natl Cancer Inst (2013) 2.21
Wnt/beta-catenin pathway activation is enriched in basal-like breast cancers and predicts poor outcome. Am J Pathol (2010) 2.20
A genome-wide screen for promoter methylation in lung cancer identifies novel methylation markers for multiple malignancies. PLoS Med (2006) 2.16
Fractal analysis of mammographic parenchymal patterns in breast cancer risk assessment. Acad Radiol (2007) 2.16
Treatment of cancer in sub-Saharan Africa. Lancet Oncol (2013) 2.07
Nuclear export and retention signals in the RS domain of SR proteins. Mol Cell Biol (2002) 2.04
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99
Colorectal cancer model of health disparities: understanding mortality differences in minority populations. J Clin Oncol (2006) 1.93
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res (2010) 1.90
Epidermal growth factor receptor inhibitor gefitinib added to chemoradiotherapy in locally advanced head and neck cancer. J Clin Oncol (2010) 1.90
Genomic analysis of estrogen cascade reveals histone variant H2A.Z associated with breast cancer progression. Mol Syst Biol (2008) 1.89
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
A compact VEGF signature associated with distant metastases and poor outcomes. BMC Med (2009) 1.84
A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nat Genet (2013) 1.82
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
Colorectal cancer and race: understanding the differences in outcomes between African Americans and whites. Med Clin North Am (2005) 1.76
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study. Cancer Epidemiol Biomarkers Prev (2007) 1.75
Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. PLoS Genet (2010) 1.74
Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15. Hum Mutat (2010) 1.73
BRCA1 promoter methylation in sporadic breast cancer is associated with reduced BRCA1 copy number and chromosome 17 aneusomy. Cancer Res (2005) 1.71
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res (2007) 1.71
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
MYC and Breast Cancer. Genes Cancer (2010) 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
Disparities in genetic testing: thinking outside the BRCA box. J Clin Oncol (2006) 1.60
Computerized analysis of digitized mammograms of BRCA1 and BRCA2 gene mutation carriers. Radiology (2002) 1.58
Computerized analysis of mammographic parenchymal patterns for assessing breast cancer risk: effect of ROI size and location. Med Phys (2004) 1.57
X-ray fluorescence microscopy reveals large-scale relocalization and extracellular translocation of cellular copper during angiogenesis. Proc Natl Acad Sci U S A (2007) 1.55
A splicing-independent function of SF2/ASF in microRNA processing. Mol Cell (2010) 1.55
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
Non-contrast enhanced MRI for evaluation of breast lesions: comparison of non-contrast enhanced high spectral and spatial resolution (HiSS) images versus contrast enhanced fat-suppressed images. Acad Radiol (2011) 1.49
Splicing factor hnRNPH drives an oncogenic splicing switch in gliomas. EMBO J (2011) 1.49
MYC in breast tumor progression. Expert Rev Anticancer Ther (2008) 1.49
Computerized texture analysis of mammographic parenchymal patterns of digitized mammograms. Acad Radiol (2005) 1.49
Antitumorigenic potential of STAT3 alternative splicing modulation. Proc Natl Acad Sci U S A (2011) 1.48
RNA landscape of evolution for optimal exon and intron discrimination. Proc Natl Acad Sci U S A (2008) 1.45
MicroRNA-30c inhibits human breast tumour chemotherapy resistance by regulating TWF1 and IL-11. Nat Commun (2013) 1.43
Molecular analysis of colorectal tumors within a diverse patient cohort at a single institution. Clin Cancer Res (2011) 1.43
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
Variants at 6q21 implicate PRDM1 in the etiology of therapy-induced second malignancies after Hodgkin's lymphoma. Nat Med (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
Power spectral analysis of mammographic parenchymal patterns for breast cancer risk assessment. J Digit Imaging (2008) 1.41
Pick one, but be quick: 5' splice sites and the problems of too many choices. Genes Dev (2013) 1.39