Selected publications: Gonçalves A, Oliveira J, Coelho T, Taipa R, Melo-Pires M, Sousa M, Santos R. Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene. Genes(Basel). 2017 Oct 3;8(10).pii: E253. doi: 10.3390/genes8100253. Oliveira J, Gonçalves A, Taipa R, Melo-Pires M, Oliveira ME, Costa JL, Machado JC, Medeiros E, Coelho T, Santos M, Santos R, Sousa M. New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. J Hum Genet. 2016 Jun;61(6):497-505. doi: 10.1038/jhg.2016.2. Epub 2016 Feb 4. Oliveira J, Negrão L, Fineza I, Taipa R, Melo-Pires M, Fortuna AM, Gonçalves AR, Froufe H, Egas C, Santos R, Sousa M. New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing. J Hum Genet. 2015 Jun;60(6):305-12. doi: 10.1038/jhg.2015.20. Epub015 Mar 5. Santos R, Gonçalves A, Oliveira J, Vieira E, Vieira JP, Evangelista T, Moreno T, Santos M, Fineza I, Bronze-da-Rocha E. New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy. J Hum Genet. 2014 Aug;59(8):454-64. doi: 10.1038/jhg.2014.54. Epub 2014 Jul 10. Oliveira J, Gonçalves A, Oliveira ME, Fineza I, Pavanello RC, Vainzof M, Bronze-da-Rocha E, Santos R, Sousa M. Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients. J Neuromuscul Dis. 2014;1(2):169-179
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