Produção Científica


Outras colaborações

Jorge Oliveira. Cap. 22 “Testes genéticos – Molecular- Sequenciação de nova geração”. In Neonatologia – Formação Avançada, edited by Alberto Caldas Afonso, Carmen Carvalho, Elisa Proença, 75-80. Lisbon, Portugal: LIDEL, 2024

Artigos científicos

Health-related roles of older generations in families with inherited genetic conditions: a scoping review. Carla Roma OliveiraCatarina SeidiJorge SequeirosLiliana SousaÁlvaro Mende. J Community Genet. 2024 May

Liminality between direct and family-mediated contact in the communication of genetic information to at-risk relatives. Álvaro Mendes & Ainsley J. Newson. Eur J Hum Genet. 2024 Apr

Disclosure of genetic risk to family members: A qualitative study on healthcare professionals’ perceived roles and responsibilities. Álvaro Mendes, Milena Paneque, Jorge Sequeiros. Eur J Med Genet, 2024 Apr

A collaborative model for Medical Genetics services delivery in Portugal: a multidisciplinary perspective. Catarina Costa João Silva, Luís Filipe Azevedo, Marina Serra de Lemos, Milena Paneque. J Community Genet, 2024 Mar.

The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists. Catarina Costa, Lídia Guimarães, Ruxanda Lungu Baião, Marina Serra de Lemos, Luís Filipe Azevedo, Milena Paneque. J Community Genet. 2024 Mar

Hereditary angioedema with normal C1-Inhibitor: Clinical and genetic characterization of 15 Portuguese unrelated families. Eunice Dias de Castro, Ana Luísa Pinhal, Mariana Bragança, João Parente Freixo, António Martinho.  Ann Allergy Asthma Immunol. 2024 Feb

Thirty-year of genetic counselling education in Europe: a growing professional area. Milena Paneque, R. O´Shea, A. Narravula, E. Siglen, A. Ciuca, A. Abulí, C. Serra-Juhé.  Eur J Hum Genet. 2024 Feb


Artigos científicos

Genetic counselling supervision: Luxury or necessity? A qualitative study with genetic healthcare professionals in Portugal. Lídia Guimarães, Ruxanda Baião, Catarina Costa, Marina Lemos, Margarida Rangel Henriques, Milena Paneque. Eur J Med Genet. 2023 Dec

Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation. Liliana Igreja, Catarina Menezes, Pedro S. Pinto, João Parente Freixo, Rui Chorão. Pediatr Neurol. 2023 Dec

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage. Sandra Martins, Ashraf Yahia, Inês P D Costa, Hassab E Siddig, Rayan Abubaker, Mahmoud Koko, Marc Corral-Juan, Antoni Matilla-Dueñas, Alexis Brice, Alexandra Durr, Eric Leguern, Laura P W Ranum, António Amorim, Liena E O Elsayed, Giovanni Stevanin, Jorge Sequeiros. Hum Genet. 2023 Nov

Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study. Aina Gayà-Barroso, Juan González-Moreno, Adrián Rodríguez, Tomás Ripoll-Vera, Inés Losada-López, Margarita Gili, Milena Paneque, Sara Pérez-Martínez, Eugenia Cisneros-Barroso. Orphanet J Rare Dis. 2023 Nov

Familial Occipital Lobe Epilepsy associated with GABAA receptor variants. Joana Fonte, Gonçalo Videira, Rui Chorão, Joel Freitas, Inês Carrilho, João Parente Freixo, Jorge Oliveira, João Chaves. Seizure. 2023 Oct

Acute onset of adult Alexander disease and the concept of GFAP toxicity. Filipe Godinho, Carolina Guerreiro, João Parente Freixo, Jorge Oliveira, José Lourenço Rosa. J Neurol Sci. 2023 Oct

Living with Transthyretin-Related Familial Amyloid Polyneuropathy—TTR-FAP: Generativity, Satisfaction with Life and Health Perception in Older Affected Individuals. Carla Roma Oliveira, Liliana Sousa, Pedro Sa-Couto, Jorge Sequeiros, Álvaro Mendes. J Adult Dev. 2023 Sep

Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome. Maria João Malaquias, Luis Braz, Cláudia Santos Silva, Joana Damásio, André Jorge, João M. Lemos, Catarina F. Campos, Daniela Garcez, Miguel Oliveira Santos, Ana G. Velon, André Caetano, Margarida Calejo, Preza Fernandes, Ângela Rego, Sandra Castro, Ana P. Sousa, Marcio Neves Cardoso, Marco Fernandes, Miguel M. Pinto, Ricardo Taipa, Ana M. Lopes, Jorge Oliveira, Marina Magalhães, for RFC1 Repeat Expansion National Study Group. Neurol Clin Pract. 2023 Sep

Hemophagocytic lymphohistiocytosis in an adolescent with NLRP12-related autoinflammatory disorder—A case report. Inês Hormigo, Marta Valente Pinto, Ana Isabel Cordeiro, Cristina Henriques, Catarina Martins, João Parente Freixo, Marta Conde, Catarina Gouveia, João Farela Neves. Pediatr Allergy Immunol. 2023 Sep

Imaging in FIG 4 – related Parkinsonism. Lénia Silva, João Parente Freixo, Ana Filipa Brandão, Márcio Cardoso, Joana Damásio. Movement Disorders Clinical Practice. 2023 Ago

TANGO2 Deficiency Disorder: two cases of developmental delay preceding metabolic crisis. Joana Valente Dias, Ana Araújo Carvalho, João Parente Freixo, Diana Antunes, Ana Antunes Martins, Teresa Painho, Sandra Jacinto. Pediatric Neurology 2023 Jul

Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study. Koido K, …, Paneque M, …, Tammimies K. Eur J Med Genet. 2023 Jul

Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility. Felício D, Dias A, Martins S, Carvalho E, Lopes AM, Pinto N, Lemos C, Santos M, Alves-Ferreira M. J Headache Pain. 2023 Jun

Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment. Diana Simão Raimundo, Ana Isabel Cordeiro, João Parente Freixo, Marta Valente Pinto, Conceição Neves and João Farela Neves. Front. Pediatr., 2023 Jun

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. Cunha P, …, Sequeiros J, Oliveira J, …, Durr A. Am J Hum Genet. 2023 Jun

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. 25. Damásio J, Barbot C, Felgueiras R, Brandão AF, Barros J, Oliveira J, Sequeiros J. Mov Disord. 2023 May

Integrating functional scoring and regulatory data to predict the effect of non-coding SNPs in a complex neurological disease. Felício D, Alves-Ferreira M, Santos M, Quintas M, Lopes AM, Lemos C, Pinto N, Martins S. Brief Funct Genomics. 2023 May

Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine. Dias A, Santos M, Carvalho E, Felício D, Silva P, Alves I, Pinho T, Sousa A, Alves-Ferreira M. Clin Genet. 2023 May

Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30. Santos M, Massano J, Lopes AM, Brandão AF, Freixo JP, Oliveira J. Neurogenetics. 2023 May

Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility. Pereira R, Carvalho V, Dias C, Barbosa T, Oliveira J, Alves Â, Oliveira E, Sá R, Sousa M. J Assist Reprod Genet. 2023 Apr

Diagnosis across a cohort of “atypical” atypical and complex parkinsonism. Malaquias MJ, Igreja L, Nogueira C, Pereira C, Vilarinho L, Quelhas D, Freixo JP, Oliveira J, Magalhães M. Parkinsonism Relat Disord. 2023 Apr

An European overview of genetic counselling supervision provision. Paneque M, Guimarães L, Bengoa J, Pasalodos S, Cordier C, Esteban I, Lemos C, Moldovan R, Serra-Juhé C. Eur J Med Genet. 2023 Apr

Gene Suppression Therapies in Hereditary Cerebellar Ataxias: A Systematic Review of Animal Studies. Santos C, Malheiro S, Correia M, Damásio J. Movement Disorders Clinical Practice 2023 Mar

Lower Facial Dystonia: An Unexpected Presentation Associated with Pathogenic RFC1 Repeat Expansions. Fonte J, Machado C, Oliveira J, Magalhães M. Movement Disorders Clinical Practice 2023 Mar

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative. Beijer D, Fogel BL, Beltran S, Danzi MC, Németh AH, Züchner A, Synofzik M, AGI Ataxia NGS genomics, platforms Working Group. Cerebellum 2023 Mar

Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case Description. Da Silva Cardoso J, Gomes R, Abreu M, Freixo JP, Reis CF, Garrido C. Cureus 2023 Feb

Pseudodominance in Friedreich Ataxia—Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation. Malaquias MJ, Oliveira J, Santos M, Brandão AF, Sardoeira A, Sequeiros J, Barros J, Damásio J. Movement Disorders Clinical Practice 2023 Feb




Artigos científicos

Multifamily interventions in the context of inherited genetic conditions: A scoping review. Guerra S, Oliveira C, Seidi C, Sousa L, Mendes Á. J Fam Ther. 2022 Dec

Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia. Guzmán-Jiménez A, …, Lopes AM, et al.. Front Cell Dev Biol. 2022 Dec

Service provision of genetics health care in Portugal. Costa C, Lemos MS, Azevedo LF, Paneque M. J Community Genet. 2022 Nov

Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal. Quelhas P, Jacinto J, Cerski C, Oliveira R, Oliveira J, Carvalho E, Dos Santos J. Healthcare (Basel). 2022 Oct

Establishing Occupational Therapy Needs: A Semi-Structured Interview with Hereditary Transthyretin Amyloidosis Patients. Gayà-Barroso A, González-Moreno J, Rodríguez A, Ripoll-Vera T, Losada-López I, Gili M, Paneque M, Cisneros-Barroso E. Int J Environ Res Public Health. 2022 Sep

Professor Paula Coutinho (1941-2022). Teive HAG, Coutinho L, Ferreira JJ, Sequeiros J. Arq Neuropsiquiatr. 2022 Aug

Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal. Couto D, Sousa L, Sequeiros J, Lima M, Mendes Á. J Community Genet. 2022 Jul

From older to younger generations: Intergenerational transmission of health-related roles in families with Huntington’s disease. Oliveira CR, Mendes Á, Sequeiros J, Sousa L. J Aging Stud. 2022 Jun

The need for recognition of core professional groups in genetics healthcare services in Europe. Paneque M, Liehr T, Serra Juhé C, Moog U, Melegh B, Carreira I. Eur J Hum Genet. 2022 Jun

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases. Castro ACE, Maia R, Batalha S, Freixo JP, Martins C, Neves C, Cordeiro AI, Neves JF. Front Immunol. 2022 May

A High Methylation Level of a Novel -284 bp CpG Island in the RAMP1 Gene Promoter Is Potentially Associated with Migraine in Women. Carvalho E, Dias A, Sousa A, Lopes AM, Martins S, Pinto N, Lemos C, Alves-Ferreira M. Brain Sci. 2022 Apr

Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries. Milne R, …, Mendes Á, et al.,. Genet Med. 2022 Feb

Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 Mutation. Jorge A, Melancia D, Figueiredo C, Galego O, Oliveira J, Martins AI, Lemos J. Mov Disord. 2022 Feb

Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing. Raposo M, Bettencourt C, Melo ARV, Ferreira AF, Alonso I, Silva P, Vasconcelos J, Kay T, Saraiva-Pereira ML, Costa MD, Vilasboas-Campos D, Bettencourt BF, Bruges-Armas J, Houlden H, Heutink P, Jardim LB, Sequeiros J, Maciel P, Lima M. Neurobiol Dis. 2022 Jan

Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome. Quental R, Gonçalves D, Rodrigues E, Serrano Gonçalves E, Oliveira J, Parente Freixo J, Leão M. Am J Med Genet A. 2022 Jan
PMID: 34997803



Impacto dos papéis dos mais velhos na promoção da saúde em famílias com paramiloidose. Oliveira CR, Mendes Á, Sousa L. PSICOLOGIA. Dec 2021

A experiência psicossocial de cuidadores informais de pessoas com paramiloidose: Um estudo qualitativo. Santos AV, Pereira JDR, Paneque M, Coelho V. PSICOLOGIA. Dec 2021

Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing. Raposo M, Bettencourt C, Melo ARV, Ferreira AF, Alonso I, Silva P, Vasconcelos J, Kay T, Saraiva-Pereira ML, Costa MD, Vilasboas-Campos D, Bettencourt BF, Bruges-Armas J, Houlden H, Heutink P, Jardim LB, Sequeiros J, Maciel P, Lima M.  Neurobiol Dis. Dec 2021
PMID: 34871736

A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation. Paneque M, Carvalho M, Rodrigues F, Saraiva J, Leonardo A, Sousa AB, Machado V, Gonçalves-Rocha M, Sequeiros J, Costa PS, Serra de Lemos M. Eur J Med Genet. Nov 2021
PMID: 34740860

A Case of YY1-Related Isolated Dystonia with Severe Oromandibular Involvement. Malaquias MJ, Damásio J, Mendes A, Freixo JP, Magalhães M. Mov Disord. Nov 2021
PMID: 34411328

Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 Mutation. Jorge A, Melancia D, Figueiredo C, Galego O, Oliveira J, Martins AI, Lemos J. Mov Disord. Oct 2021
PMID: 34719831

Calcifications in Complex Sexual Aneuploidy. Oliveira V, Pedro Rocha J, Candeias C, Oliva-Teles N, Damásio J. Brain Mov Disord Clin Pract. Oct 2021
PMID: 34765692

Alpha-Mannosidosis: A Novel Cause of Bilateral Thalami and Dentate Nuclei Hyperintensity. Malaquias MJ, Pinto E, Oliveira J, Freixo JP, Caseiro C, Magalhães M. Can J Neurol Sci. Sep 2021
PMID: 34486965

Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype. Damásio J, Santos M, Samões R, Araújo M, Macedo M, Sardoeira A, Cavaco S, Freitas J, Barros J, Oliveira J, Sequeiros J. Clin Genet. Sep 2021
PMID: 34477219

Association between cerebral folate deficiency and hereditary spastic paraplegia. Duarte S, Cruz Martins R, Rodrigues M, Lourenço E, Moreira I, Alonso I, Magalhães M. Neurologia (Engl Ed). Sep 2021
PMID: 34175258

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis. Nabais Sá MJ, Miller KA, McQuaid M, Koelling N, Wilkie AOM, Wurtele H, de Brouwer APM, Oliveira J. J Med Genet. Aug 2021
PMID: 34353863

Pons Calcifications and Striatal Necrosis in ADAR1 Aicardi-Goutières Syndrome. Mendes Pinto C, Freixo J, Brandão AF, Magalhães M. Mov Disord Clin Pract. Aug 2021
PMID: 34631961

Hereditary breast cancer and ancestry in the Madeira archipelago: an exploratory study. Miguel I, Rodrigues F, Fragoso S, Freixo J, Clara A, Luís A, Bento S, Fernandes M, Bacelar F, Câmara S, Parreira J, Duarte T, Rodrigues P, Santos S, Vaz F.  Ecancermedicalscience. Jul 2021
PMID: 34567246

Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report. Damásio J, Sardoeira A, Araújo M, Carvalho I, Sequeiros J, Barros J. Cerebellum Ataxias. 15;8(1):17. Jul 2021
PMID: 34266481

Congenital ataxia due to novel variant in ATP8A2. Damásio J, Santos D, Morais S, Brás J, Guerreiro R, Sardoeira A, Cavaco S, Carrilho I, Barbot C, Barros J, Sequeiros J. Clin Genet. 100(1):79-83. Jul 2021
PMID: 33682124

Role of older generations in the family’s adjustment to Huntington disease. Oliveira CR, Mendes Á, Sequeiros J, Sousa L. J Community Genet. 12(3):469-477. Jul 2021
PMID: 33768463

PHARC Syndrome, a Rare Genetic Disorder—Case Report. Bastos PAD, Mendonça M, Lampreia T, Magriço M, Oliveira J, Barbosa R. Jun 2021
PMID: 34405110

Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria. Malaquias MJ, Costa D, Pinto E, Videira G, Oliveira J, Freixo JP, Vilarinho L, Magalhães M. Parkinsonism Relat Disord. 86:45-47. May 2021
PMID: 33839641

Demonstrating trustworthiness when collecting and sharing genomic data: public views across 22 countries. Milne R, …, Mendes Á, et al., Genome Med. 13(1):92. doi: 10.1186/s13073-021-00903-0. May 2021
PMID: 34034801

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis. Marujo F, Pelham SJ, Freixo J, Cordeiro AI, Martins C, Casanova JL, Lei WT, Puel A, Neves JF. J Clin Immunol. Apr 2021
PMID: 33825088

Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome. Padeira GL, Araújo C, Cordeiro AI, Freixo J, Martins CG, Neves JF. Front Immunol. 12:654167. Apr 2021
PMID: 33995370

Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late-onset neurological diseases. Mendes Á, Sequeiros J, Clarke AJ. J Genet Couns. Apr 2021
PMID: 33893685

PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice. Messerschmidt C, …, Alonso I, et al., Sci Rep. 11(1):6072. Mar 2021
PMID: 33727568

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. de Wert G, Dondorp W, Clarke A, Dequeker EMC, Cordier C, Deans Z, van El CG, Fellmann F, Hastings R, Hentze S, Howard H, Macek M, Mendes A, Patch C, Rial-Sebbag E, Stefansdottir V, Cornel MC, Forzano F; European Society of Human Genetics. Eur J Hum Genet. Mar 2021
PMID: 33223530

Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1. Malaquias MJ, Mendes Pinto C, Sardoeira A, Oliveira J, Parente Freixo J, Aires Silva A, Abreu P, Rosado Coelho C, Damásio J, Vila-Chã N, Magalhães M. Neurol Sci. Feb 2021
PMID: 33188504

Past appendectomy may be related to early cognitive dysfunction in Parkinson’s disease. Gonçalves AR, Mendes A, Vila-Chã N, Damásio J, Fernandes J, Cavaco SM.  Neurol Sci. Jan 2021
PMID: 32529319



Opportunistic genomic screening. de Wert G, (…), Mendes Á, et al., Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 29(3):365-377. Mar 2021
PMID: 33223530

Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1. Malaquias MJ, Mendes Pinto C, Sardoeira A, Oliveira J, Parente Freixo J, Aires Silva A, Abreu P, Rosado Coelho C, Damásio J, Vila-Chã N, Magalhães M. Neurol Sci. 42(2):749-753. Feb 2021
PMID: 33188504

X-linked hypophosphatemic rickets: a new mutation. Maio P, Mano L, Rocha S, Baptista RB, Francisco T, Sousa H, Freixo JP, Abranches M. J Bras Nefrol. 2021 Apr-Jun;43(2):279-282.
PMID: 32897287

Web-based return of BRCA2 research results: one-year genetic counselling experience in Iceland. Stefansdottir V, Thorolfsdottir E, Hognason HB, Patch C, van El C, Hentze S, Cordier C, Mendes Á, Jonsson JJ. Eur J Hum Genet. 28(12):1656-1661. Dec 2020
PMID: 32523053

Letter to the Editor on “Copathology in Progressive Supranuclear Palsy: Does It Matter?”. Videira G, Damásio J, Pinto C, Melo-Pires M, Taipa R. Mov Disord. 35(11):2124-2126. Nov 2020
PMID: 33463761

MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes. Malaquias MJ, Martins RC, Oliveira J, Freixo JP, Magalhães M. Clin Genet. 98(5):517-519. Nov 2020
PMID: 32896900

Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data? Middleton A, …, Mendes Á, et al., Am J Hum Genet. 107(4):743-752. Oct 2020
PMID: 32946764

LAMA2 Muscular Dystrophy. Oliveira J, Parente Freixo J, Santos M, Coelho T. 2012 Jun 7 [updated 2020 Sep 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.
PMID: 22675738

Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together. Oliveira CR, Mendes Á, Sequeiros J, Sousa L. Eur J Hum Genet. 28(9):1210-1217. Sep 2020
PMID: 32341469

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype. Santos M, Damásio J, Kun-Rodrigues C, Barbot C, Sequeiros J, Brás J, Alonso I, Guerreiro R. J Clin Med. 9(4):1212. Apr 2020
PMID: 32340215

A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation. Bastos P, Barbosa R, Fernandes M, Alonso I. Neuromuscul Disord. 30(4):331-335. Apr 2020
PMID: 32360404

Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape. David D, Freixo JP, Fino J, Carvalho I, Marques M, Cardoso M, Piña-Aguilar RE, Morton CC. Hum Genet. 139(4):531-543. Apr 2020
PMID: 32030560

Patients’ perceptions of family engagement in health information practices: influences on the self-management of asthma. Abreu L, Correia M, Mendes Á, & Santos J. Journal of Communication in Healthcare. 13(1):17-26. Mar 2020

Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough. Pereira R, Barbosa T, Alves Â, Santos R, Oliveira J, Sousa M. Adv Med Sci. 65(1):1-11. Mar 2020
PMID: 31835165

Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics. Pereira R, Oliveira J, Sousa M. J Clin Med. 3;9(1):132. Jan 2020
PMID: 31947757

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



ESHG PPPC Comments on postmortem use of genetic data for research purposes. Fellmann F, …, Mendes Á, et al., Public and Professional Committee (PPPC) of the European Society of Human Genetics (ESHG). Eur J Hum Genet. 28(2):144-146. Feb 2020
PMID: 31595045

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
PMID: 31154609

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

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