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Author Title Type [ Year(Desc)]
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2012
Lee, J. - M., Ramos, E. M., Lee, J. - H., Gillis, T., et al. (2012). CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology, 78(10), 690 - 695.
Melo, D. G., & Sequeiros, J. (2012). The challenges of incorporating genetic testing in the Unified National Health System in Brazil. Genetic Testing and Molecular Biomarkers, 16(7), 651 - 655.
Lee, J. - M., Gillis, T., Mysore, J. S., Ramos, E. M., et al. (2012). Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region. American Journal of Human Genetics, 90(3), 434 - 444.
García-Murias, M., Quintáns, B., Arias, M., Seixas, A. I., et al. (2012). 'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization. Brain, 135(5), 1423 - 1435.
Varga, O., Soini, S., Kääriäinen, H., Cassiman, J. - J., et al. (2012). Definitions of genetic testing in European legal documents. Journal of Community Genetics, 3(2), 125 - 141.
Ramos, E. M., Cerqueira, J., Lemos, C., Pinto-Basto, J., et al. (2012). Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions. Movement Disorders, 27(4), 583 - 585.
Couto, A. R., Zhang, Y., Timms, A., Bruges-Armas, J., et al. (2012). Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis. Rheumatology International, 32(9), 2745 - 2751.
Paneque, M., Sequeiros, J., & Skirton, H. (2012). Quality assessment of genetic counseling process in the context of presymptomatic testing for late-onset disorders: A thematic analysis of three review articles. Genetic Testing and Molecular Biomarkers, 16(1), 36 - 45.
Bettencourt, C., Raposo, M., Kazachkova, N., Santos, C., et al. (2012). Sequence analysis of 5′ regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum, 11(4), 1045 - 1050.
Martindale, J. E., Seneca, S., Wieczorek, S., & Sequeiros, J. (2012). Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations. Human Mutation, 33(9), 1359 - 1365.
Lee, J. - H., Lee, J. - M., Ramos, E. M., Gillis, T., et al. (2012). TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease. Biochemical and Biophysical Research Communications, 424(3), 404 - 408.
Sequeiros, J., Paneque, M., Guimarães, B., Rantanen, E., et al. (2012). The wide variation of definitions of genetic testing in international recommendations, guidelines and reports. Journal of Community Genetics, 3(2), 113 - 124.
2013
Loureiro, J. L., Brandão, E., Ruano, L., Brandão, A. F., et al. (2013). Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey. JAMA Neurology, 70(4), 481 - 487.
Ramos, E. M., Latourelle, J. C., Gillis, T., Mysore, J. S., et al. (2013). Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset. Neurogenetics, 14(3-4), 173 - 179.
Barros, J., Damásio, J., Tuna, A., Alves, I., et al. (2013). Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large portuguese family. JAMA Neurology, 70(2), 235 - 240.
Castilhos, R., Souza, A., Furtado, G., Gheno, T., et al. (2013). Huntington disease and Huntington disease-like in a case series from Brazil. Clinical Genetics.
Quintas, M., Neto, J. L., Pereira-Monteiro, J., Barros, J., et al. (2013). Interaction between γ-Aminobutyric Acid A Receptor Genes: New Evidence in Migraine Susceptibility. PLoS ONE, 8(9).
Rodrigues, F., Paneque, M., Reis, C., Venâncio, M., et al. (2013). Non-syndromic sensorineural prelingual deafness: The importance of genetic counseling in demystifying parents' beliefs about the cause of their children's deafness. Journal of Genetic Counseling, 22(4), 448 - 454.
Barros, J., Ruano, L., Domingos, J., Tuna, A., et al. (2013). The Prevalence of Familial Hemiplegic Migraine With Cerebellar Ataxia and Spinocerebellar Ataxia Type 6 in Portugal. Headache.
Guimarães, L., Sequeiros, J., Skirton, H., & Paneque, M. (2013). What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late-Onset Disorders? A Study of the Consultand's Perspective. Journal of Genetic Counseling.
2015
Ramos, E. M., Kovalenko, M., Guide, J. R., St. Claire, J., et al. (2015). Chromosome substitution strain assessment of a Huntington’s disease modifier locus. Mammalian Genome, 26(3-4), 119 - 130.
Paneque, M., Mendes, Á., Saraiva, J., & Sequeiros, J. (2015). Genetic Counseling in Portugal: Education, Practice and a Developing Profession. Journal of Genetic Counseling, 24(4), 548 - 552.
Sequeiros, J., Gibbon, S., & Clarke, A. (2015). Genetics and ethics in Latin America. Journal of Community Genetics, 6(3), 185 - 187.
Ramos, E. M., Gillis, T., Mysore, J. S., Lee, J. - M., et al. (2015). Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 168(2), 135 - 143.
Mendes,, Paneque, M., Sousa, L., Clarke, A., & Sequeiros, J. (2015). How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence. European Journal of Human Genetics.

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