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Page 1
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, Wong M, Tancredi M, Fachal L, Ding YC, Kruse T, Lattimore V, Kwong A, Chan TL, Colombo M, De Vecchi G, Caligo M, Baralle D, Lázaro C, Couch F, Radice P, Southey MC, Neuhausen S, Houdayer C, Fackenthal J, Hansen TV, Vega A, Diez O, Blok R, Claes K, Wappenschmidt B, Walker L, Spurdle AB, Brown MA; ENIGMA consortium. Whiley PJ, et al. Among authors: raponi m. Clin Chem. 2014 Feb;60(2):341-52. doi: 10.1373/clinchem.2013.210658. Epub 2013 Nov 8. Clin Chem. 2014. PMID: 24212087 Free PMC article.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB. de la Hoya M, et al. Among authors: raponi m. Hum Mol Genet. 2016 Jun 1;25(11):2256-2268. doi: 10.1093/hmg/ddw094. Epub 2016 Mar 23. Hum Mol Genet. 2016. PMID: 27008870 Free PMC article.
Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.
Raponi M, Buratti E, Llorian M, Stuani C, Smith CW, Baralle D. Raponi M, et al. FEBS J. 2008 Dec;275(24):6101-8. doi: 10.1111/j.1742-4658.2008.06734.x. Epub 2008 Nov 1. FEBS J. 2008. PMID: 19016857 Free article.
We previously reported that an NF1 intron 30 exonization event is triggered from a single correct nomenclature is 'c.293-279 A>G' mutation [Raponi M, Upadhyaya M & Baralle D (2006) Hum Mutat 27, 294-295]. In this paper, we investigate which characteris …
We previously reported that an NF1 intron 30 exonization event is triggered from a single correct nomenclature is 'c.293-279 A>G' mutatio …
A study of splicing mutations in disorders of sex development.
de Calais FL, Smith LD, Raponi M, Maciel-Guerra AT, Guerra-Junior G, de Mello MP, Baralle D. de Calais FL, et al. Among authors: raponi m. Sci Rep. 2017 Nov 24;7(1):16202. doi: 10.1038/s41598-017-16296-3. Sci Rep. 2017. PMID: 29176693 Free PMC article.
BRCA1 exon 11 a model of long exon splicing regulation.
Raponi M, Smith LD, Silipo M, Stuani C, Buratti E, Baralle D. Raponi M, et al. RNA Biol. 2014;11(4):351-9. doi: 10.4161/rna.28458. Epub 2014 Mar 18. RNA Biol. 2014. PMID: 24658338 Free PMC article.
263 results