Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools
暂无分享,去创建一个
T. Frebourg | S. Baert-Desurmont | Mohamad Hamieh | M. Tosi | P. Gaildrat | A. Martins | Omar Soukarieh | Aurélie Drouet | A. Drouet
[1] T. Frebourg,et al. Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools , 2016, PLoS genetics.
[2] A. Spurdle,et al. A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays , 2015, Clinical genetics.
[3] B. Frey,et al. The human splicing code reveals new insights into the genetic determinants of disease , 2015, Science.
[4] E. Eskin,et al. Integrating Functional Data to Prioritize Causal Variants in Statistical Fine-Mapping Studies , 2014, PLoS genetics.
[5] D. Pruss,et al. A comprehensive laboratory‐based program for classification of variants of uncertain significance in hereditary cancer genes , 2014, Clinical genetics.
[6] M. Widera,et al. Genomic HEXploring allows landscaping of novel potential splicing regulatory elements , 2014, Nucleic acids research.
[7] Thierry Frebourg,et al. The Challenge for the Next Generation of Medical Geneticists , 2014, Human mutation.
[8] Rui Jiang,et al. Integrating Multiple Genomic Data to Predict Disease-Causing Nonsynonymous Single Nucleotide Variants in Exome Sequencing Studies , 2014, PLoS genetics.
[9] Rodney J Scott,et al. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database , 2013, Nature Genetics.
[10] Michael R. Speicher,et al. A survey of tools for variant analysis of next-generation genome sequencing data , 2013, Briefings Bioinform..
[11] Mustafa Tekin,et al. The promise of whole-exome sequencing in medical genetics , 2013, Journal of Human Genetics.
[12] T. Frebourg,et al. 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 , 2013, Human mutation.
[13] Thomas Schlitt,et al. Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy. , 2013, Genomics.
[14] Qing Wang,et al. UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families , 2013, Database J. Biol. Databases Curation.
[15] Etienne Rouleau,et al. Multiple sequence variants of BRCA2 exon 7 alter splicing regulation , 2012, Journal of Medical Genetics.
[16] Jean-Philippe Vert,et al. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants , 2012, Human mutation.
[17] D. Cooper,et al. Loss of exon identity is a common mechanism of human inherited disease. , 2011, Genome research.
[18] Jingyue Ju,et al. Quantitative evaluation of all hexamers as exonic splicing elements. , 2011, Genome research.
[19] Benjamin J. Raphael,et al. Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes , 2011, Proceedings of the National Academy of Sciences.
[20] Dominique Vaur,et al. Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes , 2011, European Journal of Human Genetics.
[21] A. Gonzalez-Perez,et al. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. , 2011, American journal of human genetics.
[22] Peter Johnson,et al. Prediction of single‐nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6 , 2011, Human mutation.
[23] Melissa S. Cline,et al. Using bioinformatics to predict the functional impact of SNVs , 2011, Bioinform..
[24] R. Touraine,et al. A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy , 2010, Human mutation.
[25] T. Frebourg,et al. Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants. , 2010, Methods in molecular biology.
[26] Y. Hua,et al. A positive modifier of spinal muscular atrophy in the SMN2 gene. , 2009, American journal of human genetics.
[27] D. Baralle,et al. Missed threads , 2009, EMBO reports.
[28] C. Béroud,et al. Human Splicing Finder: an online bioinformatics tool to predict splicing signals , 2009, Nucleic acids research.
[29] J. Tazi,et al. A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects , 2008, Human mutation.
[30] F. Couch,et al. Prediction and assessment of splicing alterations: implications for clinical testing , 2008, Human mutation.
[31] Fei Liu,et al. Tau exon 10 alternative splicing and tauopathies , 2008, Molecular Neurodegeneration.
[32] G. Guanti,et al. In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects , 2006, BMC Genomics.
[33] Michael Q. Zhang,et al. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. , 2006, Human molecular genetics.
[34] D. Baralle,et al. NF1 mRNA biogenesis: Effect of the genomic milieu in splicing regulation of the NF1 exon 37 region , 2006, FEBS letters.
[35] Qing Wang,et al. Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing , 2006, Human mutation.
[36] M. Raponi,et al. Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[37] Jinhua Wang,et al. ESEfinder: a web resource to identify exonic splicing enhancers , 2003, Nucleic Acids Res..
[38] J. Trojan,et al. N‐terminus of hMLH1 confers interaction of hMutLα and hMutLβ with hMutSα , 2003 .
[39] Teresa Casals,et al. New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. , 2003, Human molecular genetics.
[40] J. Trojan,et al. N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha. , 2003, Nucleic acids research.
[41] A. Krainer,et al. Listening to silence and understanding nonsense: exonic mutations that affect splicing , 2002, Nature Reviews Genetics.
[42] A. Viel,et al. Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility , 1998, Human Genetics.
[43] T. Frebourg,et al. Alternative splicing of MLH1 messenger RNA in human normal cells. , 1995, Cancer research.
[44] P. Sharp,et al. Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[45] S. Ho,et al. Site-directed mutagenesis by overlap extension using the polymerase chain reaction. , 1989, Gene.