Similar articles

• RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases.

  Tosi M, Stamm S, Baralle D. Tosi M, et al. Eur J Hum Genet. 2010 Jun;18(6):737-8. doi: 10.1038/ejhg.2010.18. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179747 Free PMC article. No abstract available.
• RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy.

  Ribeiro M, Furtado M, Martins S, Carvalho T, Carmo-Fonseca M. Ribeiro M, et al. Int J Mol Sci. 2020 Feb 16;21(4):1329. doi: 10.3390/ijms21041329. Int J Mol Sci. 2020. PMID: 32079122 Free PMC article. Review.
• 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. 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.
• Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.

  Davy G, Rousselin A, Goardon N, Castéra L, Harter V, Legros A, Muller E, Fouillet R, Brault B, Smirnova AS, Lemoine F, de la Grange P, Guillaud-Bataille M, Caux-Moncoutier V, Houdayer C, Bonnet F, Blanc-Fournier C, Gaildrat P, Frebourg T, Martins A, Vaur D, Krieger S. Davy G, et al. Eur J Hum Genet. 2017 Oct;25(10):1147-1154. doi: 10.1038/ejhg.2017.116. Epub 2017 Jul 26. Eur J Hum Genet. 2017. PMID: 28905878 Free PMC article.
• Computational approaches for the discovery of splicing regulatory RNA structures.

  Andrews RJ, Moss WN. Andrews RJ, et al. Biochim Biophys Acta Gene Regul Mech. 2019 Nov-Dec;1862(11-12):194380. doi: 10.1016/j.bbagrm.2019.04.007. Epub 2019 Apr 29. Biochim Biophys Acta Gene Regul Mech. 2019. PMID: 31048028 Free PMC article. Review.