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2012
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.
2011
Bettencourt, C., Raposo, M., Kazachkova, N., Cymbron, T., et al. (2011). The APOE ε 2 allele increases the risk of earlier age at onset in Machado-Joseph disease. Archives of Neurology, 68(12), 1580 - 1583.
Emmel, V. E., Alonso, I., Jardim, L. B., Saraiva-Pereira, M. L., & Sequeiros, J. (2011). Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?. Clinical Genetics, 79(1), 100 - 102.
Sequeiros, J., Martins, S., & Silveira, I. (2011). Epidemiology and population genetics of degenerative ataxias. Handbook of Clinical Neurology (Vol. 103, pp. 227 - 251).
Seixas, A. I., Vale, J., Jorge, P., Marques, I., et al. (2011). FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes. Behavioral and Brain Functions, 7.
Becker, F., Van El, C. G., Ibarreta, D., Zika, E., et al. (2011). Genetic testing and common disorders in a public health framework: How to assess relevance and possibilities. European Journal of Human Genetics, 19(SUPPL. 1), S6 - S44.
Temudo, T., Santos, M., Ramos, E., Dias, K., et al. (2011). Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes. Brain and Development, 33(1), 69 - 76.
Lemos, C., Neto, J. L., Pereira-Monteiro, J., Mendonça, D., et al. (2011). A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients. European Journal of Neurology, 18(4), 649 - 655.
Melo, M. M., Carvalho, M., Lopes, V., Anjos, M. J., et al. (2011). Y-STR haplotypes in three ethnic linguistic groups of Angola population. Forensic Science International: Genetics, 5(3), e83 - e88.
2010
Spears, M. D., Melton, S., Mao, Q., Payne, D., et al. (2010). Ataxia and progressive encephalopathy in a 4-year-old girl. Laboratory Medicine, 41(1), 5 - 9.
Vale, J., Bugalho, P., Silveira, I., Sequeiros, J., et al. (2010). Autosomal dominant cerebellar ataxia: Frequency analysis and clinical characterization of 45 families from Portugal. European Journal of Neurology, 17(1), 124 - 128.
Lemos, C., Mendonça, D., Pereira-Monteiro, J., Barros, J., et al. (2010). BDNF and CGRP interaction: Implications in migraine susceptibility. Cephalalgia, 30(11), 1375 - 1382.
Ramos, E. M., Martins, S., Alonso, I., Emmel, V. E., et al. (2010). Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2). American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 153(2), 524 - 531.
Sequeiros, J., Seneca, S., & Martindale, J. (2010). Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias. European Journal of Human Genetics, 18(11), 1188 - 1195.
Santos, P. I., Figueiredo, E., Gomes, I., & Sequeiros, J. (2010). Death anxiety and symbolic immortality in relatives at risk for familial amyloid polyneuropathy type I (FAP I, ATTR V30M). Journal of Genetic Counseling, 19(6), 585 - 592.
Lafrenière, R. G., Cader, M. Z., Poulin, J. - F., Andres-Enguix, I., et al. (2010). A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nature Medicine, 16(10), 1157 - 1160.
Sequeiros, J., Martindale, J., & Seneca, S. (2010). EMQN Best Practice Guidelines for molecular genetic testing of SCAs. European Journal of Human Genetics, 18(11), 1173 - 1176.
Lemos, C., Pereira-Monteiro, J., Mendonça, D., Ramos, E. M., et al. (2010). Evidence of syntaxin 1A involvement in migraine susceptibility: A Portuguese study. Archives of Neurology, 67(4), 422 - 427.
Javaher, P., Nyoungui, E., Kääriäinen, H., Kristoffersson, U., et al. (2010). Genetic screening in Europe. Public Health Genomics, 13(7-8), 524 - 537.
Melo, M. M., Carvalho, M., Lopes, V., Anjos, M. J., et al. (2010). Genetic study of 15 STRs loci of Identifiler system in Angola population. Forensic Science International: Genetics, 4(5), e153 - e157.
Sequeiros, J., Ramos, E. M., Cerqueira, J., Costa, M. C., et al. (2010). Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population. Clinical Genetics, 78(4), 381 - 387.
Prior, C., Nunes, A., Rios, M., Sequeiros, J., et al. (2010). Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention. Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención tempranaAnales de Pediatria, 72(3), 191 - 198.
2009
Almeida, T., Alonso, I., Martins, S., Ramos, E. M., et al. (2009). Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10). PLoS ONE, 4(2).
Anheim, M., Monga, B., Fleury, M., Charles, P., et al. (2009). Ataxia with oculomotor apraxia type 2: Clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain, 132(10), 2688 - 2698.
Patch, C., Sequeiros, J., & Cornel, M. C. (2009). Direct to consumer genetic tests. European Journal of Human Genetics, 17(9), 1111.

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