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Developing a national certification pathway for genetic counselors in Sweden-a short report. Pestoff R, Svensson K, Paneque M, Malmgren CI. J Community Genet.;11(1):113-117. Jan 2020
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European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. Fellmann F, …, Mendes Á, et al.; on behalf of European Society of Human Genetics, European Council of Legal Medicine, European Society of Cardiology working group on myocardial and pericardial diseases, European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Association for European Cardiovascular Pathology. Eur J Hum Genet. 27(12):1763-1773. Dec 2019
PMID: 31235869
Psychiatric genetic counseling: A mapping exercise. Moldovan R, …, Paneque M, et al., Am J Med Genet B Neuropsychiatr Genet.;180(8):523-532. Dec 2019
PMID: 31222934
Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism. Santos-Silva R, Rosário M, Grangeia A, Costa C, Castro-Correia C, Alonso I, Leão M, Fontoura M. J Pediatr Endocrinol Metab. 32(11):1265-1273. Nov 2019
PMID: 31430255
Parkin truncating variants result in a loss-of-function phenotype. Santos M, Morais S, Pereira C, Sequeiros J, Alonso I. Sci Rep. 9(1):16150. Nov 2019
PMID: 31695088
GNAO1 mutation presenting as dyskinetic cerebral palsy. Malaquias MJ, Fineza I, Loureiro L, Cardoso L, Alonso I, Magalhães M. Neurol Sci. 40(10):2213-2216. Oct 2019
PMID: 31190250
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Cheng H, …, Oliveira J, et al., Hum Mutat. 23:10.1002/humu.23936. Oct 2019
PMID: 31646703
Diagnostic yield of next-generation sequencing applied to neurological disorders. Marques Matos C, Alonso I, Leão M. J Clin Neurosci. 67:14-18. Sep 2019
PMID: 31272831
Genomic imbalances defining novel intellectual disability associated loci.Lopes F, …, Silva J, …, Sousa S, et al., Orphanet J Rare Dis. 14(1):164. Jul 2019
PMID: 31277718
Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal. Paneque M, Félix J, Mendes Á, Lemos C, Lêdo S, Silva J, Sequeiros J. Acta Med Port. 32(4):295-304. Apr 2019
PMID: 31067424
Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease. Mendes Á, Paneque M, Clarke A, Sequeiros J. Eur J Hum Genet.; 27(3):353-359. Mar 2019
PMID: 30573801
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages. Jackson L, O’Connor A, Paneque M, et al. Genet Med. 21(3):718-726. Mar 2019
PMID: 30050101
Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. Carrieri D, …, Mendes Á, et al.; European Society of Human Genetics. Eur J Hum Genet. 27(2):169-182. Feb 2019
PMID: 30310124
Abacan M, …, Paneque M, et al. The Global State of the Genetic Counseling Profession. Eur J Hum Genet. 27(2):183-197. Feb 2019
PMID: 30291341
When Decrease Aβ1-42 in CSF May Not Mean Alzheimer’s Disease: Insights From Two Case Reports With Early Onset Dementia. Ladeira F, Cação G, Correia AP, Pinto PS, Cavaco S, Melo-Pires M, Alonso I, Taipa R. Alzheimer Dis Assoc Disord. 32(4):359-363. Oct-Dec 2018
PMID: 29528856
Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge. Salgado P, Carvalho R, Brandão AF, Jorge P, Ramos C, Dias D, Alonso I, Magalhães M. eNeurologicalSci. 14:9-12. Nov 2018
PMID: 30555943
Late-onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations. Calejo M, Vilarinho L, Neiva R, Botelho L, Ramalheira J, Taipa R, Melo-Pires M, Lima AB, Damásio J. Mov Disord Clin Pract. 5(6):645-648. Oct 2018
PMID: 30637288
A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37. Loureiro JR, Oliveira CL, Sequeiros J, Silveira I. J Hum Genet. 63(9):981-987. Sep 2018
PMID: 29891931
Communication of Information about Genetic Risks: Putting Families at the Center. Mendes Á, Metcalfe A, Paneque M, Sousa L, Clarke AJ, Sequeiros J. Fam Process. 57(3):836-846. Sep 2018
PMID: 28714147
The Contribution of the Reciprocal-Engagement Model as a Theoretical Framework of a Portuguese Scale for Quality Assessment of Genetic Counseling. Costa C, Lemos MS, Paneque M. J Genet Couns. 27(4):1005-1007. Aug 2018
PMID: 29943314
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe. Sirchia F, …, Mendes Á, et al. Eur J Hum Genet. 26(7):946-954. Jul 2018
PMID: 29681620
Proposta de Uma Escala Portuguesa para a Avaliação da Qualidade do Aconselhamento Genético: Uma Nova Ferramenta para os Profissionais da Saúde. Paneque M, Costa C, Lemos C, Alves-Ferreira M, Sequeiros J, Lemos MS. Acta Med Port. 31(6):321-328. Jun 2018
PMID: 30020877
Clinical spectrum of C9orf72 expansion in a cohort of Huntington’s disease phenocopies. Martins J, Damásio J, Mendes A, Vila-Chã N, Alves JE, Ramos C, Cavaco S, Silva J, Alonso I, Magalhães M. Neurol Sci. 39(4):741-744. Apr 2018
PMID: 29441485
The challenges of the expanded availability of genomic information: an agenda-setting paper. Borry P, …, Mendes Á, et al. J Community Genet. 9(2):103-116. Apr 2018
PMID: 28952070
Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant. Pereira S, Adrião M, Sampaio M, Basto MA, Rodrigues E, Vilarinho L, Teles EL, Alonso I, Leão M. JIMD Rep. 2018;42:113-119.
PMID: 29478218
mtDNA copy number associated with age of onset in familial amyloid polyneuropathy. Santos D, Santos MJ, Alves-Ferreira M, Coelho T, Sequeiros J, Alonso I, Oliveira P, Sousa A, Lemos C, Grazina M. J Neurol Neurosurg Psychiatry. 89(3):300-304. Mar 2018
PMID: 29018163
A Portuguese rapid-onset dystonia-parkinsonism case with atypical features. Sousa AL, Alonso I, Magalhães M. Neurol Sci. 38(9):1713-1714. Sep 2017
PMID: 28500446
The perceived impact of the European registration system for genetic counsellors and nurses. Paneque M, Moldovan R, Cordier C, Serra-Juhé C, Feroce I, Pasalodos S, Haquet E, Lambert D, Bjørnevoll I, Skirton H. Eur J Hum Genet. 25(9):1075-1077. Sep 2017
PMID: 28513617
Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe. Paneque M, Serra-Juhé C, Pestoff R, Cordier C, Silva J, Moldovan R, Ingvoldstad C. Eur J Hum Genet. 25(8):918-923. Aug 2017
PMID: 28513616
From older to younger: intergenerational promotion of health behaviours in Portuguese families affected by familial amyloid polyneuropathy. Oliveira CR, Mendes A, Sousa L. Eur J Hum Genet. 25(6):687-693. Jun 2017
PMID: 28327574
Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal. Mendes Á, Sousa L, Sequeiros J, Clarke A. Soc Sci Med. 182:73-80. Jun 2017
PMID: 28433926
Direct-to-consumer genetic testing: where and how does genetic counseling fit? Middleton A, Mendes Á, Benjamin CM, Howard HC. Per Med. 14(3):249-257. May 2017
PMID: 29767582
Autosomal recessive spastic ataxia of Charlevoix-Saguenay in a Portuguese child caused by a novel SACS mutation. Pimenta J, Costa C, Alonso I, Brandão AF, Sequeiros J, et al. Pediatric Dimensions, Volume 2(1): 1-4, 2017
Article
Implementing genetic education in primary care: the Gen-Equip programme. Paneque M, et al. J Community Genet. 8(2):147-150. Apr 2017
PMID: 28289980
Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases. Leite Â, Dinis MA, Sequeiros J, Paúl C. Psychol Health Med. 22(2):244-249. Feb 2017
PMID: 26947204
A Genética nos Cuidados de Saúde Primários: Uma Perspetiva Multidisciplinar. Magalhães S, Paneque M, Silva J. Acta Med Port. 29(10):581-582. Oct 2016
PMID: 28103452
CADASIL: MRI may be normal in the fourth decade of life – a case report. Samões R, Alves JE, Taipa R, Silva J, Melo Pires M, Pereira-Monteiro JM. Cephalalgia. 36(11):1082-1085. Oct 2016
PMID: 26646783
A systematic review of interventions to provide genetics education for primary care. Paneque M, Turchetti D, Jackson L, Lunt P, Houwink E, Skirton H. BMC Fam Pract. 17:89. Jul 2016
PMID: 27445117
Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD. Morais S, Bastos-Ferreira R, Sequeiros J, Alonso I. Neurol Genet. 2(3):e73. May 2016
PMID: 27182553
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). Porto G, Brissot P, Swinkels DW, Zoller H, Kamarainen O, Patton S, Alonso I, Morris M, Keeney S. Eur J Hum Genet. 24(4):479-95. Apr 2016
PMID: 26153218
Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A. Pereira Mda C, Morais S, Sequeiros J, Alonso I. ASN Neuro. 8(2):1759091416637025. Mar 2016
PMID: 27005779
Development of a registration system for genetic counsellors and nurses in health-care services in Europe. Paneque M, Moldovan R, Cordier C, Serra-Juhé C, Feroce I, Lambert D, Bjørnevoll I, Skirton H. Eur J Hum Genet. 24(3):312-4. Mar 2016
PMID: 26531169
How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence. Mendes Á, Paneque M, Sousa L, Clarke A, Sequeiros J. Eur J Hum Genet. 24(3):315-25. Mar 2016
PMID: 26264439
Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington’s disease, Machado-Joseph disease, and familial amyloid polyneuropathy. Lêdo S, Leite Â, Souto T, Dinis MA, Sequeiros J. Braz J Psychiatry. 38(2):113-20. Feb 2016
PMID: 26870910
Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations. Leite Â, Dinis MA, Sequeiros J, Paúl C. J Genet Couns. 25(1):79-89. Feb 2016
PMID: 25986962
Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study. Paneque M, Sequeiros J, Skirton H. Eur J Hum Genet.23(11):1468-72. doi: 10.1038/ejhg.2015.23. Nov 2015
PMID: 25689925
Genetic Counseling in Portugal: Education, Practice and a Developing Profession. Paneque M, Mendes Á, Saraiva J, Sequeiros J. J Genet Couns. 24(4):548-52. Aug 2015
PMID: 25727922
Genetics Health Professionals’ Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools. Paneque M, Mendes Á, Guimarães L, Sequeiros J, Skirton H. J Genet Couns. 24(4):616-25. Aug 2015
PMID: 25363284
Prevalence of Huntington’s disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder. Ramos EM, Gillis T, Mysore JS, Lee JM, Alonso I, Gusella JF, Smoller JW, Sklar P, MacDonald ME, Perlis RH. Bipolar Disord. 17(4):403-8. Jun 2015
PMID: 25726852
Chromosome substitution strain assessment of a Huntington’s disease modifier locus. Ramos EM, Kovalenko M, Guide JR, St Claire J, Gillis T, Mysore JS, Sequeiros J, Wheeler VC, Alonso I, MacDonald ME. Mamm Genome. 26(3-4):119-30. Apr 2015
PMID: 25645993
Shifting the CARASIL paradigm: report of a non-Asian family and literature review. Menezes Cordeiro I, Nzwalo H, Sá F, Ferreira RB, Alonso I, Afonso L, Basílio C. Stroke. 46(4):1110-2. Apr 2015
PMID: 25712943
Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington’s disease. Ramos EM, …, Sequeiros J, …, Alonso I. Am J Med Genet B Neuropsychiatr Genet. 168B(2):135-43. Mar 2015
PMID: 25656686
Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature. Ogun SA, Martins S, Adebayo PB, Dawodu CO, Sequeiros J, Finkel MF. Eur J Hum Genet. 23(2):271-3. Feb 2015
PMID: 24781759
Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism. Moreira I, Bastos-Ferreira R, Silva J, Ribeiro C, Alonso I, Chaves J. Seizure. 25:62-4. Feb 2015
PMID: 25645638
Novel APTX Mutation in a Hispanic Subject Affected by Ataxia with Oculomotor Apraxia Type 1. Paucar M, Alonso I, Eriksson M, Beniaminov S, Coutinho P, Svenningsson P. Mov Disord Clin Pract. 2(1):90-92. Dec 2014
PMID: 30363926
Insufficient referral for genetic counseling in the management of hereditary haemochromatosis in portugal: a study of perceptions of health professionals requesting HFE genotyping. Leandro B, Paneque M, Sequeiros J, Porto G. J Genet Couns. 23(5):770-7. Oct 2014
PMID: 24399095
Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley. Barros J, Ferreira A, Brandão AF, Lemos C, Correia F, Damásio J, Tuna A, Sequeiros J, Coutinho P, Alonso I, Pereira-Monteiro J. Cephalalgia. 34(12):1015-20. Oct 2014
PMID: 24646837
Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes. Martins S, Pearson CE, Coutinho P, Provost S, Amorim A, Dubé MP, Sequeiros J, Rouleau GA. Hum Genet. 133(10):1311-8. Oct 2014
PMID: 25026993
Castilhos RM, …, Sequeiros J, Alonso I, et al.. Huntington disease and Huntington disease-like in a case series from Brazil. Clin Genet. 86(4):373-7. Oct 2014
PMID: 24102565
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. Harper J, …, Sequeiros J, et al.; ESHG, ESHRE and EuroGentest2. Hum Reprod. 29(8):1603-9. Aug 2014
PMID: 25006203
Identification of genetic risk factors for maxillary lateral incisor agenesis. Alves-Ferreira M, Pinho T, Sousa A, Sequeiros J, Lemos C, Alonso I J Dent Res. 93(5):452-8. May 2014
PMID: 24554542
The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal. Barros J, Ruano L, Domingos J, Tuna A, Damásio J, Alonso I, Silveira I, Sequeiros J, Coutinho P. Headache. 54(5):911-5. May 2014
PMID: 24898624
Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal. Schuler-Faccini L, Osorio CM, Romariz F, Paneque M, Sequeiros J, Jardim LB. Genet Mol Biol. 37(1 Suppl):263-70. Mar 2014
PMID: 24764760
Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M. Lemos C, Coelho T, Alves-Ferreira M, Martins-da-Silva A, Sequeiros J, Mendonça D, Sousa A. J Neurol Neurosurg Psychiatry. 85(3):326-30. Mar 2014
PMID: 24046394
Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset. Ramos EM, …, Alonso I, Sequeiros J, et al. Neurogenetics. 14(3-4):173-9. Nov 2013
PMID: 23644918
Interaction between γ-aminobutyric acid A receptor genes: new evidence in migraine susceptibility. Quintas M, Neto JL, Pereira-Monteiro J, Barros J, Sequeiros J, Sousa A, Alonso I, Lemos C. PLoS One. 8(9):e74087. Sep 2013
PMID: 24040174
Monozygotic twin sisters discordant for familial hemiplegic migraine. Barros J, Barreto R, Brandão AF, Domingos J, Damásio J, Ramos C, Lemos C, Sequeiros J, Alonso I, Pereira-Monteiro J. J Headache Pain. 14(1):77. Sep 2013
PMID: 24041236
Non-syndromic sensorineural prelingual deafness: the importance of genetic counseling in demystifying parents’ beliefs about the cause of their children’s deafness. Rodrigues F, Paneque M, Reis C, Venâncio M, Sequeiros J, Saraiva J. J Genet Couns. 22(4):448-54. Aug 2013
PMID: 23355074
What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand’s perspective. Guimarães L, Sequeiros J, Skirton H, Paneque M. J Genet Couns. 22(4):437-47. Aug 2013
PMID: 23292684
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. Coutinho P, Ruano L, Loureiro JL, Cruz VT, Barros J, Tuna A, Barbot C, Guimarães J, Alonso I, Silveira I, Sequeiros J, Marques Neves J, Serrano P, Silva MC. JAMA Neurol. 70(6):746-55. Jun 2013
PMID: 23609960
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey. Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P. JAMA Neurol. 70(4):481-7. Apr 2013
PMID: 23400676
Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family. Barros J, Damásio J, Tuna A, Alves I, Silveira I, Pereira-Monteiro J, Sequeiros J, Alonso I, Sousa A, Coutinho P. JAMA Neurol. 70(2):235-40. Feb 2013
PMID: 23407676
