Hakutulokset - Baralle, Diana

Splicing in the Diagnosis of Rare Disease: Advances and Challenges Tekijä Lord, Jenny, Baralle, Diana

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Missed threads. The impact of pre-mRNA splicing defects on clinical practice Tekijä Baralle, Diana, Lucassen, Anneke, Buratti, Emanuele

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RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases Tekijä Tosi, Mario, Stamm, Stefan, Baralle, Diana

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Role of Pseudoexons and Pseudointrons in Human Cancer Tekijä Romano, Maurizio, Buratti, Emanuele, Baralle, Diana

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Exploring the RNA Gap for Improving Diagnostic Yield in Primary Immunodeficiencies Tekijä Lye, Jed J., Williams, Anthony, Baralle, Diana

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Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing Tekijä Rowlands, Charlie F, Baralle, Diana, Ellingford, Jamie M

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Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy Tekijä Wheway, Gabrielle, Douglas, Andrew, Baralle, Diana, Guillot, Elsa

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CI-SpliceAI—Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites Tekijä Strauch, Yaron, Lord, Jenny, Niranjan, Mahesan, Baralle, Diana

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BRCA1 Exon 11, a CERES (Composite Regulatory Element of Splicing) Element Involved in Splice Regulation Tekijä Tammaro, Claudia, Raponi, Michela, Wilson, David I., Baralle, Diana

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Evolutionary Constraint Helps Unmask a Splicing Regulatory Region in BRCA1 Exon 11 Tekijä Raponi, Michela, Douglas, Andrew G. L., Tammaro, Claudia, Wilson, David I., Baralle, Diana

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BRCA1 exon 11 a model of long exon splicing regulation Tekijä Raponi, Michela, Smith, Lindsay D, Silipo, Marco, Stuani, Cristiana, Buratti, Emanuele, Baralle, Diana

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hnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHβ genes Tekijä Buratti, Emanuele, Baralle, Marco, De Conti, Laura, Baralle, Diana, Romano, Maurizio, Ayala, Youhna M., Baralle, Francisco E.

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Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cata... Tekijä Shalaby, Ahmed K., Emery-Billcliff, Peter, Baralle, Diana, Dabir, Tabib, Begum, Shahiba, Waller, Sarah, Tabernero, Lydia, Lowe, Martin, Self, James

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A study of splicing mutations in disorders of sex development Tekijä de Calais, Flavia Leme, Smith, Lindsay D., Raponi, Michela, Maciel-Guerra, Andréa Trevas, Guerra-Junior, Gil, de Mello, Maricilda Palandi, Baralle, Diana

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Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability Tekijä Hunt, David, Leventer, Richard J, Simons, Cas, Taft, Ryan, Swoboda, Kathryn J, Gawne-Cain, Mary, Magee, Alex C, Turnpenny, Peter D, Baralle, Diana

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Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia Tekijä Legebeke, Jelmer, Horton, Katie L., Jackson, Claire L., Coles, Janice, Harris, Amanda, Wai, Htoo A., Holloway, John W., Wheway, Gabrielle, Baralle, Diana, Lucas, Jane S.

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Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly Tekijä Pengelly, Reuben J, Greville-Heygate, Stephanie, Schmidt, Susanne, Seaby, Eleanor G, Jabalameli, M Reza, Mehta, Sarju G, Parker, Michael J, Goudie, David, Fagotto-Kaufmann, Christine, Mercer, Catherine, Debant, Anne, Ennis, Sarah, Baralle, Diana

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Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for cl... Tekijä Wai, Htoo A., Constable, Matthew, Drewes, Cosima, Davies, Ian C., Svobodova, Eliska, Dempsey, Esther, Saggar, Anand, Homfray, Tessa, Mansour, Sahar, Douzgou, Sofia, Barr, Kate, Mercer, Catherine, Hunt, David, Douglas, Andrew G. L., Baralle, Diana

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Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance Tekijä Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana

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Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance Tekijä Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana

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