???global.info.a_carregar???
Identificação

Identificação pessoal

Nome completo
Astrid Vicente
Género
Feminino

Nomes de citação

  • Vicente, Astrid
  • Astrid M Vicente

Identificadores de autor

Ciência ID
3812-4952-7043
ORCID iD
0000-0001-7134-8037

Endereços de correio eletrónico

  • astrid.vicente@insa.min-saude.pt (Profissional)
  • amvicente@fc.ul.pt (Profissional)

Telefones

Telefone
  • 217501529 (Profissional)

Moradas

  • Instituto Nacional de Saúde Doutor Ricardo Jorge. Av. Padre Cruz, 1649-016, Lisboa, Lisboa, Portugal (Profissional)

Domínios de atuação

  • Ciências Médicas e da Saúde - Medicina Básica - Genética Humana
Formação
Grau Classificação
1996
Concluído
Biologia Molecular (Doutoramento)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
"The Neurodevelopmental Hypothesis of Schizophrenia: Molecular Genetic Studies" (TESE/DISSERTAÇÃO)
1991
Concluído
Mestrado em Biotecnologia especialidade Biologia Molecular (Mestrado)
Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
"CYP2C7 - Estudos de Expressão e Regulação pelo Substrato Ácido Retinóico. " (TESE/DISSERTAÇÃO)
1988
Concluído
Bioquímica (Licenciatura)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
"Biologia Molecular do Virus HBV" (TESE/DISSERTAÇÃO)
Percurso profissional

Ciência

Categoria Profissional
Instituição de acolhimento
Empregador
2015 - Atual Investigador principal (carreira) (Investigação) Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal
2004/08/15 - Atual Investigador principal (carreira) (Investigação) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2007 - 2012 Investigador principal (carreira) (Investigação) Universidade de Lisboa Faculdade de Ciências, Portugal
Center for Biodiversity, Functional and Integrative Genomics - BioFIG, Portugal
2006/10/01 - 2010 Investigador visitante (Investigação) Instituto Gulbenkian de Ciência, Portugal
1999/06/01 - 2006/09/30 Investigador principal (carreira) (Investigação) Instituto Gulbenkian de Ciência, Portugal
1998/02/01 - 1999/05/31 Pós-doutorado (Investigação) Instituto Gulbenkian de Ciência, Portugal
1996/09/01 - 1998/01/31 Pós-doutorado (Investigação) Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal

Docência no Ensino Superior

Categoria Profissional
Instituição de acolhimento
Empregador
2015/08/15 - Atual Professor Associado Convidado (Docente Universitário) Universidade de Lisboa Faculdade de Ciências, Portugal
1997/10/01 - 1999/07/31 Professor Visitante (Docente Ensino Superior Politécnico) Instituto Piaget, Portugal
1990/10/01 - 1991/07/31 Professor Visitante (Docente Universitário) Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal

Cargos e Funções

Categoria Profissional
Instituição de acolhimento
Empregador
2012/12/01 - Atual Director de Unidade Orgânica Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Department of Health Promotion and Non-Communicable Disease Prevention, Portugal
2005 - 2012 Director de Unidade Orgânica Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Research and Development Unit, Department of Health Promotion and Non-Communicable Disease Prevention, Portugal
Projetos

Bolsa

Designação Financiadores
2016 - 2017 Use of an Early Life Exposure Assessment Tool (ELEAT) for Autism in Portugal
2016DPS1311
Investigador responsável
Autism Science Foundation
Concluído
2014 - 2015 Bem entender a Saúde (BEnS)
2013DPS914
Investigador responsável
Fundação Calouste Gulbenkian
Concluído
2010 - 2014 Enhancing the Scientific Study of Early Autism (ESSEA)
BM1004
Investigador
European Cooperation in Science and Technology
Concluído
2007 - 2010 Estudo de factores imunológicos e de neuroprotecção em pacientes com autismo
.
Investigador responsável
2007 - 2009 Biomarkers in Alzheimer´s Disease: the lipid homeostasis/oxydative stress connection
.
Outra
2005 - 2007 Autoantibody repertoires and regulatory T-cells in human and murine lupus
Investigador
Fundação para a Ciência e a Tecnologia
Concluído
1999 - 2002 Epidemiology of Autism in Portugal
cc
Investigador responsável
Instituto Gulbenkian de Ciência, Portugal
Fundação Calouste Gulbenkian
Concluído

Projeto

Designação Financiadores
2023/09/22 - 2027/09/21 A European consortium to determine how complex, real-world environments influence brain development (ENVIRO-DEV)
Collaborator, Management Committee Member for Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Em curso
2023/09/21 - 2027/09/20 A Personalized Prevention Roadmap for the future Healthcare (PROPHET)
Investigador
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
European Commission
Em curso
2022 - 2026 Genomic Data Infrastructure (GDI)
Digital Europe Program, ref 101081813
Investigador
European Commission
Em curso
2022 - 2024 Building the EU Cancer and Public Health Genomics platform (Can.Heal)
Ref 101080009
European Commission
2020/01/01 - 2023/12/31 Biosystems and Integrative Sciences Institute
UIDB/04046/2020
Investigador
FCiênciasID Associação para a Investigação e Desenvolvimento de Ciências, Portugal

Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Universidade do Minho, Portugal

Universidade de Trás-os-Montes e Alto Douro, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2020/06/01 - 2023/10/31 Beyond 1 Million Genomes
Project 951724 ( B1MG )
Investigador
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Concluído
2022/01/01 - 2023/06/30 Deep graph learning approaches to personalized medicine
EXPL/CCI-BIO/0126/2021
FCiênciasID Associação para a Investigação e Desenvolvimento de Ciências, Portugal

Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Fundação para a Ciência e a Tecnologia
Em curso
2019/10/01 - 2023/06/30 Gene-Environment Interaction in Autism Spectrum Disorder
PTDC/MED-OUT/28937/2017
Investigador responsável
FCiênciasID Associação para a Investigação e Desenvolvimento de Ciências, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2020 - 2021 Saúde Mental em Tempos de Pandemia COVID-19 (SM-COVID19)
279_596885124
Investigador
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
FCT
Concluído
2017/02 - 2020/01 Synaptic networks and personalized medicine approaches to understand neurobehavioral disease across the lifespan (MEDPERSYST)
POCI-01-0145-FEDER-016428
Portugal2020
Concluído
2015/02 - 2018/02 Autism Spectrum Disorder in Europe (ASDEU)
Service Contract NUMBER -DG-SANTÉ/2014/C2/035
Investigador
Directorate-General of Health and Consumers of the European Commission (DG-SANCO)
Concluído
2015 - 2018 BioISI - Instituto de Biosistemas & Ciências Integrativas Unidade de I&D
2013DPS928
Investigador
Fundação para a Ciência e a Tecnologia
Concluído
2014 - 2017 Joint Action on Chronic Disorders (CHRODIS-JA)
2013DPS858
Investigador
Concluído
2012/02 - 2015/07 Identifying the early signs of Autism Spectrum Disorder - integration of behavioral and genetic information for early autism detection in an at-risk population
Investigador responsável
Fundação para a Ciência e a Tecnologia, I.P.
Concluído
2011/01/01 - 2013/12/31 Strategic Project - UI 4046 - 2011-2012
PEst-OE/BIA/UI4046/2011
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Universidade do Minho, Portugal

Universidade do Algarve, Portugal

Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2010 - 2013 Gene-environment interactions in health and disease, a Portuguese survey
PTDC/SAU-ESA/101743/2008
Investigador
Fundação para a Ciência e a Tecnologia
Concluído
2009 - 2013 Inhibited and indiscriminate attachment disordered behaviours in institutionally-reared children: A multilevel comparison with autism spectrum disorders and Williams syndrome
PTDC/PSI-PCL/101506/2008
Investigador
Concluído
2007/09/01 - 2011/02/28 Epidemiologia genética dos acidentes vasculares cerebrais na era pós-genómica
PTDC/SAU-GMG/64426/2006
Co-Investigador Responsável (Co-IR)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Universidade de Lisboa Instituto de Medicina Molecular João Lobo Antunes, Portugal

Fundação Calouste Gulbenkian, Portugal

Instituto Gulbenkian de Ciência, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2007 - 2011 Molecular Genetics and Functional Genomics of Autism Spectrum Disorders
Investigador responsável
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2007/04 - 2010/04 Autism Genome Project
Investigador
Autism Speaks
Concluído
2007 - 2010 The Autism Simplex Collection (TASC)
cc
Investigador
Concluído
2003 - 2007 Pharmacogenetics of risperidone therapy in autism spectrum disorders.
POCTI/FCB/44706/2002
Investigador responsável
Universidade de Coimbra
Concluído
2002 - 2006 Genetic Epidemiology of Autism Spectrum Disorders
POCTI/ESP/39636/2001
Investigador responsável
Instituto Gulbenkian de Ciência, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
Produções

Publicações

Artigo em boletim informativo
  1. Rasga, Célia; Vicente, Astrid. "O que acontece quando as crianças com autismo crescem? Um estudo exploratório", Observações_ Boletim Epidemiológico, 2017
  2. Xavier Santos, João; Célia Rasga; Ana Rita Marques; Muhammad Asif; Astrid M Vicente. "Interações gene-ambiente na perturbação do espetro do autismo", Boletim Epidemiológico Observações, 2017, http://www.insa.min-saude.pt/category/informacao-e-cultura-cientifica/publicacoes/boletim-epidemiologico-observacoes-suplemento-9/.
Artigo em conferência
  1. Vilela, Joana; Martiniano, Hugo; Luzi, Sonija; Marques, Ana; Santos, João; Asif, Muhammad; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid. "Identification of molecular alterations in neurotransmission and synaptic genes in Autism Spectrum Disorder". 2018.
Artigo em revista
  1. Vilela, Joana; Martiniano, Hugo; Marques, Ana Rita; Santos, João Xavier; Asif, Muhammad; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid Moura. "Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis". Biomedicines 11 11 (2023): 2971. http://dx.doi.org/10.3390/biomedicines11112971.
    10.3390/biomedicines11112971
  2. De Carmo Campos, Ana; Cardoso, Maria Luís; Vicente, Astrid. "Are we PREPAREd? Concerning the “PREemptive Pharmacogenomics Testing for Preventing Adverse Drug Reactions (PREPARE) Study”". Acta Médica Portuguesa 36 10 (2023): 689-690. http://dx.doi.org/10.20344/amp.20170.
    10.20344/amp.20170
  3. Costa, Alexandra; Fialho, Mónica; Rasga, Célia; Martiniano, Hugo; dos Santos, Osvaldo; Virgolino, Ana; Vicente, Astrid; Heitor, Maria João. Autor correspondente: Costa, Alexandra. "Distress among healthcare professionals during the first two years of COVID-19 pandemic in Portugal". European Journal of Public Health 33 Supplement (2023): http://dx.doi.org/10.1093/eurpub/ckad160.132.
    10.1093/eurpub/ckad160.132
  4. Lopes, F; Costa, Alexandra; Cardoso, M L; Custers, I; Merchant, A; Konopko, M; Scollen, S; Vicente, Astrid. "Roadmap for implementation of genomics in healthcare: towards equity in access to genomics". European Journal of Public Health 33 Supplement (2023): http://dx.doi.org/10.1093/eurpub/ckad160.987.
    10.1093/eurpub/ckad160.987
  5. Rasga, Célia; Santos, João Xavier; Café, Cátia; Oliveira, Alexandra; Duque, Frederico; Posada, Manuel; Nunes, Ana; Oliveira, Guiomar; Vicente, Astrid Moura. "Prevalence of Autism Spectrum Disorder in the Centro region of Portugal: a population based study of school age children within the ASDEU project". Frontiers in Psychiatry 14 (2023): http://dx.doi.org/10.3389/fpsyt.2023.1148184.
    10.3389/fpsyt.2023.1148184
  6. Santos, João Xavier; Sampaio, Pedro; Rasga, Célia; Martiniano, Hugo; Faria, Clarissa; Café, Cátia; Oliveira, Alexandra; et al. "Evidence for an association of prenatal exposure to particulate matter with clinical severity of Autism Spectrum Disorder". Environmental Research 228 (2023): 115795. http://dx.doi.org/10.1016/j.envres.2023.115795.
    10.1016/j.envres.2023.115795
  7. Costa, Alexandra; Caldas de Almeida, Teresa; Fialho, Mónica; Rasga, Célia; Martiniano, Hugo; Santos, Osvaldo; Virgolino, Ana; Vicente, Astrid Moura; Heitor, Maria João. "Mental Health of Healthcare Professionals: Two Years of the COVID-19 Pandemic in Portugal". International Journal of Environmental Research and Public Health 20 4 (2023): 3131. http://dx.doi.org/10.3390/ijerph20043131.
    10.3390/ijerph20043131
  8. Vilela, Joana; Asif, Muhammad; Marques, Ana Rita; Santos, João Xavier; Rasga, Célia; Vicente, Astrid; Martiniano, Hugo. "Biomedical knowledge graph embeddings for personalized medicine: Predicting disease-gene associations". Expert Systems 40 5 (2022): http://dx.doi.org/10.1111/exsy.13181.
    10.1111/exsy.13181
  9. Quentin Guillon; Sophie Baduel; Álvaro Bejarano; Ricardo Canal-Bedia; María MagÁn-Maganto; Clara FernÁndez-Álvarez; María Victoria Martín-Cilleros; et al. "Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study". Autism (2022): http://dx.doi.org/10.1177/13623613221080318.
    10.1177/13623613221080318
  10. Vilela, Joana; Martiniano, Hugo; Marques, Ana Rita; Santos, João Xavier; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid Moura. "Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders". Frontiers in Molecular Neuroscience 15 (2022): http://dx.doi.org/10.3389/fnmol.2022.932305.
    10.3389/fnmol.2022.932305
  11. Micai, Martina; Fulceri, Francesca; Salvitti, Tommaso; Romano, Giovanna; Poustka, Luise; Diehm, Robert; Iskrov, Georgi; et al. "Autistic Adult Services Availability, Preferences, and User Experiences: Results From the Autism Spectrum Disorder in the European Union Survey". Frontiers in Psychiatry 13 (2022): http://dx.doi.org/10.3389/fpsyt.2022.919234.
    10.3389/fpsyt.2022.919234
  12. Santos, João Xavier; Rasga, Célia; Marques, Ana Rita; Martiniano, Hugo; Asif, Muhammad; Vilela, Joana; Oliveira, Guiomar; et al. "A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics". Frontiers in Neuroscience 16 (2022): http://dx.doi.org/10.3389/fnins.2022.862315.
    10.3389/fnins.2022.862315
  13. Marques, Ana Rita; Santos, João Xavier; Martiniano, Hugo; Vilela, Joana; Rasga, Célia; Luísa Romão; Astrid M Vicente; et al. "Gene variants involved in nonsense-mediated mRNA decay suggest a role in Autism Spectrum Disorder". Biomedicines 10 3 (2022): 665. http://dx.doi.org/10.3390/biomedicines10030665.
    Aceite para publicação • 10.3390/biomedicines10030665
  14. T Almeida; MJ Heitor; O Santos; A Costa; C Rasga; H Martiniano; A Virgolino; M Fialho; AM Vicente. "Mental Health in times of COVID-19: Policy Brief". European Journal of Public Health (2021): http://dx.doi.org/10.1093/eurpub/ckab165.598.
    10.1093/eurpub/ckab165.598
  15. Martina Micai; Antonio Ciaramella; Tommaso Salvitti; Francesca Fulceri; Laura Maria Fatta; Luise Poustka; Robert Diehm; et al. "Autistic Adult Health and Professional Perceptions of It: Evidence From the ASDEU Project". Frontiers in Psychiatry (2021): http://dx.doi.org/10.3389/fpsyt.2021.614102.
    10.3389/fpsyt.2021.614102
  16. Micai, Martina; Ciaramella, Antonio; Salvitti, Tommaso; Fulceri, Francesca; Fatta, Laura Maria; Poustka, Luise; Diehm, Robert; et al. "Intervention Services for Autistic Adults: An ASDEU Study of Autistic Adults, Carers, and Professionals’ Experiences". Journal of Autism and Developmental Disorders 52 4 (2021): 1623-1639. http://dx.doi.org/10.1007/s10803-021-05038-0.
    10.1007/s10803-021-05038-0
  17. Scattoni, Maria Luisa; Micai, Martina; Ciaramella, Antonio; Salvitti, Tommaso; Fulceri, Francesca; Fatta, Laura Maria; Poustka, Luise; et al. "Real-World Experiences in Autistic Adult Diagnostic Services and Post-diagnostic Support and Alignment with Services Guidelines: Results from the ASDEU Study". Journal of Autism and Developmental Disorders 51 11 (2021): 4129-4146. http://dx.doi.org/10.1007/s10803-021-04873-5.
    10.1007/s10803-021-04873-5
  18. Lin, Bochao Danae; Colas, Fabrice; Nijman, Isaac J.; Medic, Jelena; Brands, William; Parr, Jeremy R.; van Eijk, Kristel R.; et al. "The role of rare compound heterozygous events in autism spectrum disorder". Translational Psychiatry 10 1 (2020): http://dx.doi.org/10.1038/s41398-020-00866-7.
    10.1038/s41398-020-00866-7
  19. Vicente, Astrid M.; Ballensiefen, Wolfgang; Jönsson, Jan-Ingvar. "How personalised medicine will transform healthcare by 2030: the ICPerMed vision". Journal of Translational Medicine 18 1 (2020): http://dx.doi.org/10.1186/s12967-020-02316-w.
    Acesso aberto • 10.1186/s12967-020-02316-w
  20. Asif, Muhammad; Martiniano, Hugo F. M. C.; Marques, Ana Rita; Santos, João Xavier; Vilela, Joana; Rasga, Celia; Oliveira, Guiomar; Couto, Francisco M.; Vicente, Astrid M.. "Identification of biological mechanisms underlying a multidimensional ASD phenotype using machine learning". Translational Psychiatry 10 1 (2020): http://dx.doi.org/10.1038/s41398-020-0721-1.
    10.1038/s41398-020-0721-1
  21. Asif, Muhammad; Vicente, Astrid M.; Couto, Francisco M.. "FunVar: A systematic pipeline to unravel the convergence patterns of genetic variants in ASD, a paradigmatic complex disease". Journal of Biomedical Informatics 98 (2019): 103273. http://dx.doi.org/10.1016/j.jbi.2019.103273.
    10.1016/j.jbi.2019.103273
  22. Chauhan, Ganesh; Adams, Hieab H.H.; Satizabal, Claudia L.; Bis, Joshua C.; Teumer, Alexander; Sargurupremraj, Muralidharan; Hofer, Edith; et al. "Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting". Neurology 92 5 (2019): e486-e503. http://dx.doi.org/10.1212/wnl.0000000000006851.
    10.1212/wnl.0000000000006851
  23. Asif, Muhammad; Martiniano, Hugo F. M. C. M.; Vicente, Astrid M.; Couto, Francisco M.. "Identifying disease genes using machine learning and gene functional similarities, assessed through Gene Ontology". PLOS ONE 13 12 (2018): e0208626. http://dx.doi.org/10.1371/journal.pone.0208626.
    10.1371/journal.pone.0208626
  24. Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K.; Walters, Raymond K.; Bras, Jose; Duncan, Laramie; Escott-Price, Valentina; et al. "Analysis of shared heritability in common disorders of the brain". Science 360 6395 (2018): eaap8757. http://hdl.handle.net/10400.18/5596.
    10.1126/science.aap8757
  25. Fletcher-Watson, Sue; Larsen, Kenneth; Salomone, Erica. "What do parents of children with autism expect from participation in research? A community survey about early autism studies". Autism 23 1 (2017): 175-186. http://dx.doi.org/10.1177/1362361317728436.
    10.1177/1362361317728436
  26. Rannikmäe, Kristiina; Sivakumaran, Vhinoth; Millar, Henry; Malik, Rainer; Anderson, Christopher D.; Chong, Mike; Dave, Tushar; et al. "COL4A2 is associated with lacunar ischemic stroke and deep ICH". Neurology 89 17 (2017): 1829-1839. http://dx.doi.org/10.1212/wnl.0000000000004560.
    10.1212/wnl.0000000000004560
  27. Astrid M Vicente. "Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia". Molecular Autism 8 1 (2017): http://dx.doi.org/10.1186/s13229-017-0137-9.
    10.1186/s13229-017-0137-9
  28. Weiner, Daniel J; Wigdor, Emilie M; Ripke, Stephan; Walters, Raymond K; Kosmicki, Jack A; Grove, Jakob; Samocha, Kaitlin E; et al. "Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders". Nature Genetics 49 7 (2017): 978-985. http://dx.doi.org/10.1038/ng.3863.
    10.1038/ng.3863
  29. Conceição, Inês C.; Rama, Maria M.; Oliveira, Bárbara; Café, Cátia; Almeida, Joana; Mouga, Susana; Duque, Frederico; Oliveira, Guiomar; Vicente, Astrid M.. "Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through in silico analysis of its functional structure". Psychiatric Genetics 27 2 (2017): 54-61. http://dx.doi.org/10.1097/ypg.0000000000000159.
    10.1097/ypg.0000000000000159
  30. Fletcher-Watson, Sue; Apicella, Fabio; Auyeung, Bonnie; Beranova, Stepanka; Bonnet-Brilhault, Frederique; Canal-Bedia, Ricardo; Charman, Tony; et al. "Attitudes of the autism community to early autism research". Autism 21 1 (2016): 61-74. http://dx.doi.org/10.1177/1362361315626577.
    10.1177/1362361315626577
  31. Malik, Rainer; Traylor, Matthew; Pulit, Sara L.; Bevan, Steve; Hopewell, Jemma C.; Holliday, Elizabeth G.; Zhao, Wei; et al. "Low-frequency and common genetic variation in ischemic stroke". Neurology 86 13 (2016): 1217-1226. http://dx.doi.org/10.1212/wnl.0000000000002528.
    10.1212/wnl.0000000000002528
  32. Astrid M Vicente; Salomone, Erica; Beranová, Štepánka; Bonnet-Brilhault, Frédérique; Briciet Lauritsen, Marlene; Budisteanu, Magdalena; Buitelaar, Jan; et al. "Use of early intervention for young children with autism spectrum disorder across Europe". Autism 20 2 (2015): 233-249. http://dx.doi.org/10.1177/1362361315577218.
    10.1177/1362361315577218
  33. Maier, Robert; Moser, Gerhard; Chen, Guo-Bo; Ripke, Stephan; Coryell, William; Potash, James B.; Scheftner, William A.; et al. "Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder". The American Journal of Human Genetics 96 2 (2015): 283-294. http://dx.doi.org/10.1016/j.ajhg.2014.12.006.
    10.1016/j.ajhg.2014.12.006
  34. Astrid M Vicente. "Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways". Nature Neuroscience 18 2 (2015): 199-209. http://dx.doi.org/10.1038/nn.3922.
    10.1038/nn.3922
  35. Gaio, Vânia; Picanço, Isabel; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; et al. "Pharmacogenetic Profile of a South Portuguese Population: Results from the Pilot Study of the European Health Examination Survey in Portugal". Public Health Genomics 18 3 (2015): 139-150. http://dx.doi.org/10.1159/000373920.
    10.1159/000373920
  36. Correia, Catarina; Oliveira, Guiomar; Vicente, Astrid M.. "Protein Interaction Networks Reveal Novel Autism Risk Genes within GWAS Statistical Noise". PLoS ONE 9 11 (2014): e112399. http://dx.doi.org/10.1371/journal.pone.0112399.
    10.1371/journal.pone.0112399
  37. Correia, Catarina; Diekmann, Yoan; Vicente, Astrid; Pereira-Leal, José. "Hope for GWAS: Relevant Risk Genes Uncovered from GWAS Statistical Noise". International Journal of Molecular Sciences 15 10 (2014): 17601-17621. http://dx.doi.org/10.3390/ijms151017601.
    10.3390/ijms151017601
  38. Holmes, M. V.; Dale, C. E.; Zuccolo, L.; Silverwood, R. J.; Guo, Y.; Ye, Z.; Prieto-Merino, D.; et al. "Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data". BMJ 349 jul10 6 (2014): g4164-g4164. http://dx.doi.org/10.1136/bmj.g4164.
    10.1136/bmj.g4164
  39. Hadley, Dexter; Wu, Zhi-liang; Kao, Charlly; Kini, Akshata; Mohamed-Hadley, Alisha; Thomas, Kelly; Vazquez, Lyam; et al. "The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism". Nature Communications 5 1 (2014): http://dx.doi.org/10.1038/ncomms5074.
    10.1038/ncomms5074
  40. Pinto, Dalila; Delaby, Elsa; Merico, Daniele; Barbosa, Mafalda; Merikangas, Alison; Klei, Lambertus; Thiruvahindrapuram, Bhooma; et al. "Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders". The American Journal of Human Genetics 94 5 (2014): 677-694. http://dx.doi.org/10.1016/j.ajhg.2014.03.018.
    10.1016/j.ajhg.2014.03.018
  41. João Tarroso, Maria; Almeida, Joana; Lontro, Raquel; Marques, Carla; S Miguel, Teresa; Lobo, Cristina; Café, Cátia; et al. "Os efeitos da risperidona nos níveis de prolactina numa amostra de crianças e adolescentes com autismo". (2014): https://pjp.spp.pt//article/view/4356.
    10.25754/pjp.2010.4356
  42. Buxbaum, Joseph D; Bolshakova, Nadia; Brownfeld, Jessica M; Anney, Richard JL; Bender, Patrick; Bernier, Raphael; Cook, Edwin H; et al. "The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses". Molecular Autism 5 1 (2014): 34. http://dx.doi.org/10.1186/2040-2392-5-34.
    10.1186/2040-2392-5-34
  43. Gaio, Vânia; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana; et al. "Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal". Diabetology & Metabolic Syndrome 6 1 (2014): 23. http://dx.doi.org/10.1186/1758-5996-6-23.
    10.1186/1758-5996-6-23
  44. Correia, Catarina T; Conceição, Inês C; Oliveira, Bárbara; Coelho, Joana; Sousa, Inês; Sequeira, Ana F; Almeida, Joana; et al. "Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders". Molecular Autism 5 1 (2014): 28. http://dx.doi.org/10.1186/2040-2392-5-28.
    10.1186/2040-2392-5-28
  45. Sabatti, Chiara; Service, Susan K; Hartikainen, Anna-Liisa; Pouta, Anneli; Ripatti, Samuli; Brodsky, Jae; Jones, Chris G; et al. "Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs". Nature Genetics 45 9 (2013): 984-994. http://dx.doi.org/10.1038/ng.2711.
    10.1038/ng.2711
  46. Gilling, Mette; Rasmussen, Hanne B.; Calloe, Kirstine; Sequeira, Ana F.; Baretto, Marta; Oliveira, Guiomar; Almeida, Joana; et al. "Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders". Frontiers in Genetics 4 (2013): http://dx.doi.org/10.3389/fgene.2013.00054.
    10.3389/fgene.2013.00054
  47. Traylor, Matthew; Farrall, Martin; Holliday, Elizabeth G; Sudlow, Cathie; Hopewell, Jemma C; Cheng, Yu-Ching; Fornage, Myriam; et al. "Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies". The Lancet Neurology 11 11 (2012): 951-962. http://dx.doi.org/10.1016/s1474-4422(12)70234-x.
    10.1016/s1474-4422(12)70234-x
  48. Anney, Richard; Klei, Lambertus; Pinto, Dalila; Almeida, Joana; Bacchelli, Elena; Baird, Gillian; Bolshakova, Nadia; et al. "Individual common variants exert weak effects on the risk for autism spectrum disorders". Human Molecular Genetics 21 21 (2012): 4781-4792. http://dx.doi.org/10.1093/hmg/dds301.
    10.1093/hmg/dds301
  49. Holt, Richard; Sykes, Nuala H; Conceição, Inês C; Cazier, Jean-Baptiste; Anney, Richard JL; Oliveira, Guiomar; Gallagher, Louise; et al. "CNVs leading to fusion transcripts in individuals with autism spectrum disorder". European Journal of Human Genetics 20 11 (2012): 1141-1147. http://dx.doi.org/10.1038/ejhg.2012.73.
    10.1038/ejhg.2012.73
  50. Fesel, Constantin; Barreto, Marta; Ferreira, Ricardo C.; Costa, Nuno; Venda, Lara L.; Pereira, Clara; Carvalho, Claudia; et al. "Compensatory T-Cell Regulation in Unaffected Relatives of SLE Patients, and Opposite IL-2/CD25-Mediated Effects Suggested by Coreferentiality Modeling". PLoS ONE 7 3 (2012): e33992. http://dx.doi.org/10.1371/journal.pone.0033992.
    10.1371/journal.pone.0033992
  51. Krug, Tiago; Gabriel, João Paulo; Taipa, Ricardo; Fonseca, Benedita V; Domingues-Montanari, Sophie; Fernandez-Cadenas, Israel; Manso, Helena; et al. "TTC7B Emerges as a Novel Risk Factor for Ischemic Stroke Through the Convergence of Several Genome-Wide Approaches". Journal of Cerebral Blood Flow & Metabolism 32 6 (2012): 1061-1072. http://dx.doi.org/10.1038/jcbfm.2012.24.
    10.1038/jcbfm.2012.24
  52. Leblond, Claire S.; Heinrich, Jutta; Delorme, Richard; Proepper, Christian; Betancur, Catalina; Huguet, Guillaume; Konyukh, Marina; et al. "Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders". PLoS Genetics 8 2 (2012): e1002521. http://dx.doi.org/10.1371/journal.pgen.1002521.
    10.1371/journal.pgen.1002521
  53. Manso, Helena; Krug, Tiago; Sobral, João; Albergaria, Isabel; Gaspar, Gisela; Ferro, José M.; Oliveira, Sofia A.; Vicente, Astrid M.. "Variants within the nitric oxide synthase 1 gene are associated with stroke susceptibility". Atherosclerosis 220 2 (2012): 443-448. http://dx.doi.org/10.1016/j.atherosclerosis.2011.11.011.
    10.1016/j.atherosclerosis.2011.11.011
  54. Manso, H.; Krug, T.; Sobral, J.; Albergaria, I.; Gaspar, G.; Ferro, J. M.; Oliveira, S. A.; Vicente, A. M.. "Evidence for epistatic gene interactions between growth factor genes in stroke outcome". European Journal of Neurology 19 8 (2012): 1151-1153. http://dx.doi.org/10.1111/j.1468-1331.2011.03625.x.
    10.1111/j.1468-1331.2011.03625.x
  55. Casey, Jillian P.; Magalhaes, Tiago; Conroy, Judith M.; Regan, Regina; Shah, Naisha; Anney, Richard; Shields, Denis C.; et al. "A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder". Human Genetics 131 4 (2011): 565-579. http://dx.doi.org/10.1007/s00439-011-1094-6.
    10.1007/s00439-011-1094-6
  56. Gouveia, Liliana O.; Sobral, João; Vicente, Astrid M.; Ferro, José M.; Oliveira, Sofia A.. "Replication of the CELSR1 association with ischemic stroke in a Portuguese case-control cohort". Atherosclerosis 217 1 (2011): 260-262. http://dx.doi.org/10.1016/j.atherosclerosis.2011.03.022.
    10.1016/j.atherosclerosis.2011.03.022
  57. Anney, Richard J L; Kenny, Elaine M; O'Dushlaine, Colm; Yaspan, Brian L; Parkhomenka, Elena; Buxbaum, Joseph D; Sutcliffe, James; Gill, Michael; Gallagher, Louise. "Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders". European Journal of Human Genetics 19 10 (2011): 1082-1089. http://dx.doi.org/10.1038/ejhg.2011.75.
    10.1038/ejhg.2011.75
  58. Manso, Helena; Krug, Tiago; Sobral, João; Albergaria, Isabel; Gaspar, Gisela; Ferro, José M; Oliveira, Sofia A; Vicente, Astrid M. "Variants in the Inflammatory IL6 and MPO Genes Modulate Stroke Susceptibility Through Main Effects and Gene—Gene Interactions". Journal of Cerebral Blood Flow & Metabolism 31 8 (2011): 1751-1759. http://dx.doi.org/10.1038/jcbfm.2011.27.
    10.1038/jcbfm.2011.27
  59. Vieland, Veronica J.; Hallmayer, Joachim; Huang, Yungui; Pagnamenta, Alistair T.; Pinto, Dalila; Khan, Hameed; Monaco, Anthony P.; et al. "Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism". Journal of Neurodevelopmental Disorders 3 2 (2011): 113-123. http://dx.doi.org/10.1007/s11689-011-9072-9.
    10.1007/s11689-011-9072-9
  60. Anney, R.; Klei, L.; Pinto, D.; Regan, R.; Conroy, J.; Magalhaes, T. R.; Correia, C.; et al. "A genome-wide scan for common alleles affecting risk for autism". Human Molecular Genetics 19 20 (2010): 4072-4082. http://dx.doi.org/10.1093/hmg/ddq307.
    10.1093/hmg/ddq307
  61. Correia, C. T.; Coutinho, A. M.; Sequeira, A. F.; Sousa, I. G.; Lourenço Venda, L.; Almeida, J. P.; Abreu, R. L.; et al. "Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism". Genes, Brain and Behavior 9 7 (2010): 841-848. http://dx.doi.org/10.1111/j.1601-183x.2010.00627.x.
    10.1111/j.1601-183x.2010.00627.x
  62. Pinto, Dalila; Pagnamenta, Alistair T.; Klei, Lambertus; Anney, Richard; Merico, Daniele; Regan, Regina; Conroy, Judith; et al. "Functional impact of global rare copy number variation in autism spectrum disorders". Nature 466 7304 (2010): 368-372. http://dx.doi.org/10.1038/nature09146.
    10.1038/nature09146
  63. Tansey, Katherine E.; Brookes, Keeley J.; Hill, Matthew J.; Cochrane, Lynne E.; Gill, Michael; Skuse, David; Correia, Catarina; et al. "Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: Genetic and molecular studies". Neuroscience Letters 474 3 (2010): 163-167. http://dx.doi.org/10.1016/j.neulet.2010.03.035.
    10.1016/j.neulet.2010.03.035
  64. Manso, Helena; Krug, Tiago; Sobral, João; Albergaria, Isabel; Gaspar, Gisela; Ferro, José M; Oliveira, Sofia A; Vicente, Astrid M. "Variants of the Matrix Metalloproteinase-2 but not the Matrix Metalloproteinase-9 genes significantly influence functional outcome after stroke". BMC Medical Genetics 11 1 (2010): http://dx.doi.org/10.1186/1471-2350-11-40.
    10.1186/1471-2350-11-40
  65. Krug, Tiago; Manso, Helena; Gouveia, Liliana; Sobral, João; Xavier, Joana M.; Albergaria, Isabel; Gaspar, Gisela; et al. "Kalirin: a novel genetic risk factor for ischemic stroke". Human Genetics 127 5 (2010): 513-523. http://dx.doi.org/10.1007/s00439-010-0790-y.
    10.1007/s00439-010-0790-y
  66. Sophie Domingues-Montanari; Israel Fernández-Cadenas; Alberto del Rio-Espinola; Natalia Corbeto; Tiago Krug; Helena Manso; Liliana Gouveia; et al. "Association of a Genetic Variant in the <i>ALOX5AP</i> with Higher Risk of Ischemic Stroke: A Case-Control, Meta-Analysis and Functional Study". Cerebrovascular Diseases (2010): http://dx.doi.org/10.1159/000302738.
    10.1159/000302738
  67. Correia, C T; Almeida, J P; Santos, P E; Sequeira, A F; Marques, C E; Miguel, T S; Abreu, R L; Oliveira, G G; Vicente, A M. "Pharmacogenetics of risperidone therapy in autism: association analysis of eight candidate genes with drug efficacy and adverse drug reactions". The Pharmacogenomics Journal 10 5 (2009): 418-430. http://dx.doi.org/10.1038/tpj.2009.63.
    10.1038/tpj.2009.63
  68. Correia, Catarina; Coutinho, Ana M.; Almeida, Joana; Lontro, Raquel; Lobo, Cristina; Miguel, Teresa S.; Martins, Madalena; et al. "Association of the alpha4 integrin subunit gene (ITGA4) with autism". American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 150B 8 (2009): 1147-1151. http://dx.doi.org/10.1002/ajmg.b.30940.
    10.1002/ajmg.b.30940
  69. Weiss, Lauren A.; Arking, Dan E.. "A genome-wide linkage and association scan reveals novel loci for autism". Nature 461 7265 (2009): 802-808. http://dx.doi.org/10.1038/nature08490.
    10.1038/nature08490
  70. Correia, C.; Santos, P.; Coutinho, A. M.; Vicente, A. M.. "Characterization of pharmacogenetically relevantCYP2D6andABCB1gene polymorphisms in a Portuguese population sample". Cell Biochemistry and Function 27 4 (2009): 251-255. http://dx.doi.org/10.1002/cbf.1561.
    10.1002/cbf.1561
  71. Branco, Claudia C.; Pacheco, Paula R.; Cabrol, Ester; Cabral, Rita; Vicente, Astrid M.; Mota-Vieira, Luisa; Branco,Claudia C.; et al. "Linkage disequilibrium and diversity for three genomic regions in Azoreans and mainland Portuguese". Genetics and Molecular Biology 32 2 (2009): 220-226. http://dx.doi.org/10.1590/s1415-47572009000200003.
    10.1590/s1415-47572009000200003
  72. Barreto, Marta; Ferreira, Ricardo C; Lourenço, Lara; Moraes-Fontes, Maria F; Santos, Eugénia; Alves, Miguel; Carvalho, Cláudia; et al. "Low frequency of CD4+CD25+ Treg in SLE patients: a heritable trait associated with CTLA4 and TGFß gene variants". BMC Immunology 10 1 (2009): 5. http://dx.doi.org/10.1186/1471-2172-10-5.
    10.1186/1471-2172-10-5
  73. Liu, Xiao-Qing; Paterson, Andrew D.; Szatmari, Peter. "Genome-wide Linkage Analyses of Quantitative and Categorical Autism Subphenotypes". Biological Psychiatry 64 7 (2008): 561-570. http://dx.doi.org/10.1016/j.biopsych.2008.05.023.
    10.1016/j.biopsych.2008.05.023
  74. Rosa, Alexandra; Fonseca, Benedita V; Krug, Tiago; Manso, Helena; Gouveia, Liliana; Albergaria, Isabel; Gaspar, Gisela; et al. "Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients". BMC Medical Genetics 9 1 (2008): http://dx.doi.org/10.1186/1471-2350-9-57.
    10.1186/1471-2350-9-57
  75. Costa-Carvalho, B. T.; de Moraes-Pinto, M. I.; de Almeida, L. C.; de Seixas Alves, M. T.; Maia, R. P.; de Souza, R. L.; Barreto, M.; et al. "A Remarkable Depletion of Both Naïve CD4+ and CD8+ with High Proportion of Memory T Cells in an IPEX Infant with a FOXP3 Mutation in the Forkhead Domain". Scandinavian Journal of Immunology 68 1 (2008): 85-91. http://dx.doi.org/10.1111/j.1365-3083.2008.02055.x.
    10.1111/j.1365-3083.2008.02055.x
  76. Gilling, Mette; Lauritsen, Marlene Briciet; Møller, Morten; Henriksen, Karen Friis; Vicente, Astrid; Oliveira, Guiomar; Cintin, Christina; et al. "A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia". European Journal of Human Genetics 16 3 (2008): 312-319. http://dx.doi.org/10.1038/sj.ejhg.5201985.
    10.1038/sj.ejhg.5201985
  77. Branco, Claudia C.; Cabrol, Ester; Bento, Marta São; Gomes, Cidália T.; Cabral, Rita; Vicente, Astrid M.; Pacheco, Paula R.; Mota-Vieira, Luisa. "Evaluation of linkage disequilibrium on the Xq13.3 region: Comparison between the Azores islands and mainland Portugal". American Journal of Human Biology 20 3 (2008): 364-366. http://dx.doi.org/10.1002/ajhb.20734.
    10.1002/ajhb.20734
  78. Branco, C.C.; Pacheco, P.R.; Cabral, R.; Vicente, A.M.; Mota-Vieira, L.. "The Portuguese genetic background in analysis: São Miguel Island (Azores) versus mainland Portugal". Forensic Science International: Genetics Supplement Series 1 1 (2008): 315-317. http://www.scopus.com/inward/record.url?eid=2-s2.0-50349095371&partnerID=MN8TOARS.
    10.1016/j.fsigss.2007.10.034
  79. Branco, C.C.; São Bento, M.; Gomes, C.T.; Cabral, R.; Vicente, A.M.; Pacheco, P.R.; Mota-Vieira, L.. "Study of the genetic relationship and diversity patterns in the Azores based on 15 STR markers". Forensic Science International: Genetics Supplement Series 1 1 (2008): 312-314. http://www.scopus.com/inward/record.url?eid=2-s2.0-50349099055&partnerID=MN8TOARS.
    10.1016/j.fsigss.2007.10.041
  80. Branco, C.C.; Cabrol, E.; Bento, M.S.; Gomes, C.T.; Cabral, R.; Vicente, A.M.; Pacheco, P.R.; Mota-Vieira, L.. "Analysis of the linkage disequilibrium extension in the Azores Islands (Portugal)". Forensic Science International: Genetics Supplement Series 1 1 (2008): 309-311. http://www.scopus.com/inward/record.url?eid=2-s2.0-50349091970&partnerID=MN8TOARS.
    10.1016/j.fsigss.2007.10.026
  81. Guiomar Oliveira; Assunção Ataíde; Carla Marques; Teresa S Miguel; Ana Margarida Coutinho; Luísa Mota-Vieira; Esmeralda Gonçalves; et al. "Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions". Developmental Medicine & Child Neurology (2007): http://dx.doi.org/10.1111/j.1469-8749.2007.00726.x.
    10.1111/j.1469-8749.2007.00726.x
  82. Correia, Catarina; Vicente, Astrid M. "Pharmacogenetics of risperidone response and induced side effects". Personalized Medicine 4 3 (2007): 271-293. http://dx.doi.org/10.2217/17410541.4.3.271.
    10.2217/17410541.4.3.271
  83. Ana M. Coutinho; Inês Sousa; Madalena Martins; Catarina Correia; Teresa Morgadinho; Celeste Bento; Carla Marques; et al. "Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels". Human Genetics (2007): http://dx.doi.org/10.1007/s00439-006-0301-3.
    10.1007/s00439-006-0301-3
  84. Branco, Claudia C.; Pacheco, Paula R.; Cabral, Rita; Vicente, Astrid M.; Mota-Vieira, Luisa. "Genetic signature of the São Miguel island population (Azores) assessed by 21 microsatellite loci". American Journal of Human Biology 20 1 (2007): 118-120. http://dx.doi.org/10.1002/ajhb.20692.
    10.1002/ajhb.20692
  85. Coutinho, Ana M.; Oliveira, Guiomar; Katz, Cécile; Feng, Jinong; Yan, Jin; Yang, Chunmei; Marques, Carla; et al. "MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients". American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144B 4 (2007): 475-483. http://dx.doi.org/10.1002/ajmg.b.30490.
    10.1002/ajmg.b.30490
  86. Catarina Correia; Ana M. Coutinho; Luísa Diogo; Manuela Grazina; Carla Marques; Teresa Miguel; Assunção Ataíde; et al. "Brief Report: High Frequency of Biochemical Markers for Mitochondrial Dysfunction in Autism: No Association with the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene". Journal of Autism and Developmental Disorders (2006): http://dx.doi.org/10.1007/s10803-006-0138-6.
    10.1007/s10803-006-0138-6
  87. Ferreira, Ricardo; Barreto, Marta; Santos, Eugénia; Pereira, Clara; Martins, Berta; Andreia, Rita; Crespo, Francisco; et al. "Heritable factors shape natural human IgM reactivity to Ro60/SS-A and may predispose for SLE-associated IgG anti-Ro and anti-La autoantibody production". Journal of Autoimmunity 25 2 (2005): 155-163. http://dx.doi.org/10.1016/j.jaut.2005.05.004.
    10.1016/j.jaut.2005.05.004
  88. Oliveira, G; Diogo, L; Grazina, M; Garcia, P; Ataíde, A; Marques, C; Miguel, T; et al. "Mitochondrial dysfunction in autism spectrum disorders: a population-based study". Developmental Medicine & Child Neurology 47 3 (2005): 185-189. http://dx.doi.org/10.1017/s0012162205000332.
    10.1017/s0012162205000332
  89. Yan, J; Oliveira, G; Coutinho, A; Yang, C; Feng, J; Katz, C; Sram, J; et al. "Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients". Molecular Psychiatry 10 4 (2004): 329-332. http://dx.doi.org/10.1038/sj.mp.4001629.
    10.1038/sj.mp.4001629
  90. Silva, Susana C; Correia, Catarina; Fesel, Constantin; Barreto, Marta; Coutinho, Ana M; Marques, Carla; Miguel, Teresa S; et al. "Autoantibody repertoires to brain tissue in autism nuclear families". Journal of Neuroimmunology 152 1-2 (2004): 176-182. http://dx.doi.org/10.1016/j.jneuroim.2004.03.015.
    10.1016/j.jneuroim.2004.03.015
  91. Barreto, Marta; Santos, Eugénia; Ferreira, Ricardo; Fesel, Constantin; Fontes, Maria Francisca; Pereira, Clara; Martins, Berta; et al. "Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus". European Journal of Human Genetics 12 8 (2004): 620-626. http://dx.doi.org/10.1038/sj.ejhg.5201214.
    10.1038/sj.ejhg.5201214
  92. Coutinho, A M; Oliveira, G; Morgadinho, T; Fesel, C; Macedo, T R; Bento, C; Marques, C; et al. "Variants of the serotonin transporter gene (SLC6A4) significantly contribute to hyperserotonemia in autism". Molecular Psychiatry 9 3 (2004): 264-271. http://dx.doi.org/10.1038/sj.mp.4001409.
    10.1038/sj.mp.4001409
  93. Wong, A H C; Macciardi, F; Klempan, T; Kawczynski, W; Barr, C L; Lakatoo, S; Wong, M; et al. "Identification of candidate genes for psychosis in rat models, and possible association between schizophrenia and the 14-3-3eta gene". Molecular Psychiatry 8 2 (2003): 156-166. http://dx.doi.org/10.1038/sj.mp.4001237.
    10.1038/sj.mp.4001237
  94. Muglia, P; Vicente, A M; Verga, M; King, N; Macciardi, F; Kennedy, J L. "Association between the BDNF gene and schizophrenia". Molecular Psychiatry 8 2 (2003): 147-148. http://dx.doi.org/10.1038/sj.mp.4001221.
    10.1038/sj.mp.4001221
  95. Oliveira, Guiomar; Matoso, Eunice; Vicente, Astrid; Ribeiro, Patricia; Marques, Carla; Ataíde, Assunção; Miguel, Teresa; Saraiva, Jorge; Carreira, Isabel. "Partial tetrasomy of chromosome 3q and mosaicism in a child with autism". Journal of Autism and Developmental Disorders 33 2 (2003): 177-185. http://dx.doi.org/10.1023/a:1022943627660.
    10.1023/a:1022943627660
  96. Astrid M Vicente; A. Petronis; A. Timinskas; V. Basile; A. Janulaitis; J. L. Kenned. "A novel PCR-RFLP detection method using an optimized set of restriction enzymes". In Vitro Neurochemical Techniques 34 (1999): 153-166. https://doi.org/10.1385/0-89603-509-3:153.
  97. Basile, V.; Vicente, A.; Martignetti, J.A.; Skryabin, B.V.; Brosius, J.; Kennedy, J.L.. "Assignment of the human BC200 RNA gene (BCYRN1) to chromosome 2p16 by radiation hybrid mapping". Cytogenetic and Genome Research 82 3-4 (1998): 271-272. http://dx.doi.org/10.1159/000015117.
    10.1159/000015117
  98. Vicente, A M; Macciardi, F; Verga, M; Bassett, A S; Honer, W G; Bean, G; Kennedy, J L. "NCAM and schizophrenia: genetic studies". Molecular Psychiatry 2 1 (1997): 65-69. http://dx.doi.org/10.1038/sj.mp.4000235.
    10.1038/sj.mp.4000235
  99. Astrid M Vicente; Ambrósio A. "Genetic strategies in schizophrenia research". Psiquiatria Clínica (1997): 25-34.
  100. Astrid M Vicente; Petronis A; Grazina MM; Pato CN; Azevedo MH; Meltzer JA; Liebermann JA; et al. "Linkage and association studies of the dopamine D4 receptor gene and psychosis". Psychiatric Genetics 4 (1994):
  101. Vicente, A. M.; St. George-Hyslop, P.; Macciardi, F. M.; Sorbi, S.; Mortilla, M.; Rogaev, E.; Heggart, D. M.; Kennedy, J. L.. "Evaluation of APP codon 713 in schizophrenia and Alzheimer's disease". Psychiatric Genetics 3 4 (1993): 223-226. http://dx.doi.org/10.1097/00041444-199324000-00004.
    10.1097/00041444-199324000-00004
Capítulo de livro
  1. Astrid M Vicente; João XavierSantos; Celia Rasga; João Xavier Santos; Célia Rasga; Astrid Moura Vicente. "Exposure to Xenobiotics and Gene-Environment Interactions in Autism Spectrum Disorder: A Systematic Review". In Autism - Heterogeneity Etiological Core and Outcome. IntechOpen., 2021.
    Publicado • 10.5772/intechopen.95758
  2. Martiniano, Hugo F. M. C.; Asif, Muhammad; Vicente, Astrid Moura; Correia, Luís. "Network Propagation-Based Semi-supervised Identification of Genes Associated with Autism Spectrum Disorder". In Computational Intelligence Methods for Bioinformatics and Biostatistics, 239-248. Springer International Publishing, 2020.
    10.1007/978-3-030-34585-3_21
  3. Astrid M Vicente. "Santos JX, Rasga C, Vicente AM. Exposure to Xenobiotics and Gene-Environment Interactions .". IntechOpen., 2020.
    Publicado
Documento de trabalho
  1. Monika Frenzel; Ejner Moltzen; Kathleen D'Hondt; Hemma Bauer; Malin Eklund; Astrid M Vicente; Maria Josè Ruiz Alvarez; et al. 2023. "The Strategic Research & Innovation Agenda (SRIA) for Personalised Medicine (PM)". https://www.icpermed.eu/media/content/EPPerMed-SRIA.pdf.
Poster em conferência
  1. Virgolino, Ana; Santos, Osvaldo; Fialho, Mónica; Heitor, Maria João; Costa, Alexandra; Rasga, Célia; Martiniano, Hugo; et al. "Addictive behaviours during the COVID-19 pandemic: results from a nationwide study in Portugal". Trabalho apresentado em 14th European Public Health Conference, 2021.
  2. Santos, Osvaldo; Virgolino, Ana; Heitor, Maria João; Fialho, Mónica; Costa, Alexandra; Rasga, Célia; Martiniano, Hugo; et al. "Mental health during the COVID-19 pandemic in Portugal". Trabalho apresentado em 14th European Public Health Conference, 2021.
  3. Xavier Santos, João; Hugo Martiniano; Ana Rita Marques; Celia Rasga; Joana Vilela; Astrid M Vicente. "Exploring mechanisms of gene-environment interactions contributing to the onset of idiopathic Autism Spectrum Disorder". Trabalho apresentado em European Human Genetics Virtual Conference 2020, 2020.
  4. João Xavier Santos; Ana Rita Marques; Joana Vilela; Célia Rasga; Guiomar Oliveira; Astrid M Vicente (3812-4952-7043). "Rare variants targeting genes that encode for cytochrome P450 enzymes in Autism Spectrum Disorder". Trabalho apresentado em European Human Genetics Conference, Gothenburg, Sweden, 2019.
  5. Ana Rita Marques; Martiniano, H; Santos, J.X; Vilela, J; Rasga, C; Oliveira, G; Romão, L.; Astrid M Vicente (3812-4952-7043). "Autism Spectrum Disorder: gene variants involved in the nonsense-mediated mRNA decay pathway". Trabalho apresentado em European Human Genetics Conference, Gothenburg, Sweden, 2019.
  6. Joana Vilela; Hugo Martiniano; Sonija Luzia; Ana Rita Marques; João Santos; Muhammad Asif; Célia Rasga; Guiomar Oliveira; Astrid M Vicente (3812-4952-7043). "Identification of disease risk variants in neurotransmission and synaptic genes in Autism Spectrum Disorder". Trabalho apresentado em SPN2019 - XVI Meeting of the Portuguese Society for Neurosciences, 2019.
  7. Ana Rita Marques; Martiniano H.; Santos J.X.; Vilela J.; Asif M.; Oliveira G.; Romão L.; Astrid M Vicente (3812-4952-7043). "Evidence for a role of nonsense-mediated mRNA decay pathway genes in Autism Spectrum Disorder". Trabalho apresentado em 22ª Reunião Anual da Sociedade Portuguesa de Genética Humana (SPGH), Centro de Investigação Médica da Faculdade de Medicina da Universidade do Porto, 2018.
  8. Marques, Ana Rita; Martiniano, Hugo; Santos, J.X.; Vilela, Joana; Asif, M.; Oliveira, G.; Romão, Luísa; Astrid M Vicente (3812-4952-7043). "miRNA and lncRNA gene variants in Autism Spectrum Disorder". Trabalho apresentado em 22ª Reunião Anual da Sociedade Portuguesa de Genética Humana (SPGH), Centro de Investigação Médica da Faculdade de Medicina da Universidade do Porto, 2018.
  9. Ana Rita Marques; Martiniano, H; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Enguita F.J.; Romão, L.; Astrid M Vicente (3812-4952-7043). "Regulatory RNAs in Autism Spectrum Disorder". Trabalho apresentado em Ciência 2018 - Encontro com a Ciência e Tecnologia em Portugal, Centro de Congressos de Lisboa, 2018.
  10. Joana Vilela; Hugo Martiniano; Ana Rita Marques; João Xavier Santos; Muhammad Asif; Célia Rasga; Guiomar Oliveira; Astrid M Vicente (3812-4952-7043). "Autism Spectrum Disorder: modulation of genomic variant effects on brain structure and function". Trabalho apresentado em Ciência 2018 - Encontro com a Ciência e Tecnologia em Portugal, Centro de Congressos de Lisboa, 2018.
  11. Santos, JX; Marques, AR; Rasga, C; Asif, M; Vilela, J; Martiniano, H; Oliveira, G; Nunes, A; Astrid M Vicente (3812-4952-7043). "A role for gene-environment interactions in Autism Spectrum Disorder is suggested by an excess of potentially pathogenic variants in genes regulating exposure to toxicants". Trabalho apresentado em European Society of Human Genetics, Milan, Italy, 2018.
  12. Ana Rita Marques; Martiniano H.; Santos J.X; Vilela J.; Asif M.; Oliveira G.; Enguita F.J.; Romão L.; Astrid M Vicente (3812-4952-7043). "miRNA and lncRNA gene variants in Autism Spectrum Disorder (Prémio melhor poster)". Trabalho apresentado em European Society of Human Genetics, Milan, Italy, 2018.
    10.15405/epsbs.2019.04.02.86
  13. Asif, M; Hugo F. Martiniano; Celia Rasga; Ana R. Marques; João X. Santos; Francisco M. Couto; Astrid M Vicente (3812-4952-7043). "Translating the complex ASD genetic architecture into clinical phenotype using an integrative system biology approach". Trabalho apresentado em European Society of Human Genetics, Milan, Italy, 2018.
  14. C. Rasga; J. Santos; A. L. Lopes; A. R. Marques; J. Vilela; M. Asif; C. K. Walker; R. J. Schmidt; Astrid M Vicente (3812-4952-7043). "Adapting the early life exposure assessment tool (ELEAT) to Portugal: a pilot study to tackle gene-environment interactions in autism spectrum disorder". Trabalho apresentado em International Meeting for Autism Research 2018, Rotterdam, Netherlands, 2018.
  15. Asif M; Hugo F. Martiniano; Célia Rasga; Ana R. Marques; João X. Santos; Francisco M. Couto; Astrid M Vicente (3812-4952-7043). "An integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum Disorder". Trabalho apresentado em EMBO I EMBL Symposia - From Single- to Multiomics: Applications and Challenges in Data Integration - EMBL Heidelberg, Germany, 2017.
  16. Joana M. Vilela; Ana R. Marques; Hugo Martiniano; João P. Santos; Muhammad Asif; Célia Rasga; Guiomar Oliveira; Astrid M Vicente (3812-4952-7043). "Regulatory RNAs in Autism Spectrum Disorder: modulation of genomic variant effects on clinical phenotype and brain structure and function". Trabalho apresentado em 2nd BioSys Retreat 2017, Beja, Portugal, 2017.
  17. Ana Rita Marques; Hugo Martiniano; João Xavier Santos; Asif M.; Guiomar Oliveira; Luísa Romão; Astrid M Vicente (3812-4952-7043). "Autism Spectrum Disorder (ASD): genetic, epigenetic and environmental issues". Trabalho apresentado em 2nd BioSys Retreat 2017, Beja, Portugal, 2017.
  18. Asif M; Hugo FM; Célia R; Ana RM; Joao XS; Guiomar O; Francisco MC; Astrid M Vicente (3812-4952-7043). "An integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum Disorder". Trabalho apresentado em 2nd BioSys Retreat 2017, Beja, Portugal, 2017.
  19. João Xavier Santos; Célia Rasga; Ana Rita Marques; Muhammad Asif; Cátia Café; Ana Nunes; Guiomar Oliveira; Astrid M Vicente (3812-4952-7043). "Gene-environment interactions in Autism Spectrum Disorder (ASD)". Trabalho apresentado em 2nd BioSys Retreat 2017, Beja, Portugal, 2017.
  20. P. García Primo; D. Schendel; E. Partner; C. Rasga; C. Café; B. Rogé; C. Arnaud; et al. "ASD Prevalence Study across Europe: Developing a school-based screening approach in the ASDEU project". Trabalho apresentado em IMFAR, the International Meeting for Autism Research, San Francisco, USA, 2017.
  21. Santos JX; Rasga C; Asif M; Marques AR; Astrid M Vicente (3812-4952-7043). "CNVs targeting genes that regulate exposure to toxicants in Autism Spectrum Disorder (ASD) – a role for gene-environment interactions". Trabalho apresentado em IMFAR, the International Meeting for Autism Research, San Francisco, USA, 2017.
  22. Asif M; Rasga C; Martiniano H; Santos JX; Marques AR; Couto FM; Astrid M Vicente (3812-4952-7043). "An integrative system biology approach for dissecting Autism Spectrum Disorder". Trabalho apresentado em Dia do Jovem Investigador do Instituto Nacional de Saúde Doutor Ricardo Jorge, 2017.
  23. Ana Rita Marques; Hugo Martiniano; Muhammad Asif; João Pedro Santos; Astrid M Vicente (3812-4952-7043). "Exploratory analysis of mutations targeting noncoding RNAs in autism". Trabalho apresentado em Dia do Jovem Investigador do Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisboa, 2017.
  24. João Xavier Santos; Célia Rasga; Andrea Parisi; Ana Nunes; Astrid M Vicente (3812-4952-7043). "Gene-environment interactions in Autism Spectrum Disorders (ASD)". Trabalho apresentado em 10th BioISI Day, Faculdade de Ciências da Universidade de Lisboa, 2017.
  25. Ana Rita Marques; Hugo Martiniano; Luísa Romão; Astrid M Vicente (3812-4952-7043). "Neuropsychiatric disease (NPD) clustering in families with Autism Spectrum Disorder (ASD): genetic, epigenetic and environmental issues". Trabalho apresentado em 10th BioISI Day, Faculdade de Ciências da Universidade de Lisboa, 2017.
  26. Asif M; Francisco M. Couto; Astrid M Vicente (3812-4952-7043). "System medicine approach to improve diagnosis and prognosis in Autism Spectrum Disorders (ASD), based on extensive genomic, biochemical and clinical data". Trabalho apresentado em 10th BioISI Day, Faculdade de Ciências da Universidade de Lisboa, 2017.
  27. Asif M; Astrid M Vicente (3812-4952-7043); Francisco M. Couto. "Increased frequency of the autism broader phenotype in mothers transmitting etiological CNVs to sons affected by Autism Spectrum Disorder (ASD)". Trabalho apresentado em 1st BioSys/BioISI Summer Retreat, Santa Cruz, Portugal, 2016.
  28. João Xavier Santos; Andrea Parisi; Célia Rasga; Ana Nunes; Astrid M Vicente (3812-4952-7043). "Gene-environment interactions in Autism Spectrum Disorders (ASD)". Trabalho apresentado em 1st BioSys/BioISI Summer Retreat, Santa Cruz, Portugal, 2016.
  29. Ana Rita Marques; Hugo Martiniano; Luísa Romão; Astrid M Vicente (3812-4952-7043). "Neuropsychiatric disease (NPD) clustering in families with Autism Spectrum Disorder (ASD): genetic, epigenetic and environmental issues". Trabalho apresentado em 1st BioSys/BioISI Summer Retreat, Santa Cruz, Portugal, 2016.
  30. Asif M; Conceição IC; Kwiatkowska K; Rasga C; Café Cátia; Sousa L.; Oliveira, G; Couto MF; Astrid M Vicente (3812-4952-7043). "Increased frequency of the autism broader phenotype in mothers transmitting etiological CNVs to sons affected by Autism Spectrum Disorder (ASD)". Trabalho apresentado em The European Human Genetics Conference 2016, Barcelona, Spain, 2016.
  31. Astrid M Vicente; Catarina Correia; Inês Conceição; Katarzyna Kwiatkowska; Catarina Rodrigues; Ana Rita Marques; Guiomar Oliveira. "Novel Autism Spectrum Disorder (ASD) Risk Genes identified in Genome-Wide Association Studies (GWAS) through Protein Interaction Network analysis". Trabalho apresentado em XXIIIrd World Congress on Psychiatric Genetics, Toronto, Canada, 2015.
  32. Rodrigues, AC; Conceição, IC; Kwiatkowska, K; Picanço, I; Café, C; Almeida, J; Mouga, S; et al. "Expression Profile of Circulating miRNAs in Autism Spectrum Disorders". Trabalho apresentado em European Human Genetics Conference 2015, Glasgow, United Kingdom, 2015.
  33. Asif M; Conceição IC; Machado C; Pereira P; Café C; Almeida J; Mouga S; et al. "Use of machine leaning approaches to explore genetic and phenotypic associations for Autism Spectrum Disorder". Trabalho apresentado em 18ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Lisboa, 2014.
  34. Kwiatkowska, K; Conceição, IC; Rodrigues, AC; Picanço, I; Marques, I; Melo, J; Ferreira, S.; et al. "Differential diagnosis of Autism Spectrum Disorder (ASD) by CNV detection – can early diagnosis be improved?". Trabalho apresentado em 18ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Lisboa, 2014.
  35. Gaio, Vania; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; et al. "Genetic variation at the CY2C19 gene associated with Metabolic Syndrome susceptibility in a South Portuguese population". Trabalho apresentado em 63rd Annual Meeting of The American Society of Human Genetics (ASHG), Boston, USA, 2013.
  36. Inês C. Conceição; Catarina Correia; Bárbara Oliveira; Maria M. Rama; Cátia Café; Joana Almeida; Susana Mouga; et al. "CNV Characterization, Inheritance and Phenotypic Correlations in Families with Autism". Trabalho apresentado em European Human Genetics Conference, Paris, França, 2013.
  37. B. A. Oliveira; C. A. Correia; I. C. Conceição; C. Café; J. Almeida; S. Mouga; F. Duque; G. Oliveira; Astrid M Vicente (3812-4952-7043). "Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes". Trabalho apresentado em European Human Genetics Conference, Paris, França, 2013.
  38. Inês C. Conceição; Catarina Correia; Bárbara Oliveira; Maria Margarida Rama; Cátia Café; Joana Almeida; Susana Mouga; et al. "Relevance of Common and Rare CNVs for Autism Etiology". Trabalho apresentado em International Society for Autism Research (INFAR), San Sebastian, Espanha, 2013.
  39. Oliveira BA; Conceição IC; Correia CA; Café C; Almeida J; Mouga S; Duque, F; Oliveira, G; Astrid M Vicente (3812-4952-7043). "Copy number variants involving components of the glutamatergic synaptic pathway in ASD patients". Trabalho apresentado em 16ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Porto, Portugal, 2012.
  40. Paulos-Pinheiro S; Coelho JI; Albergaria I; Gaspar G; Ferro JM; Astrid M Vicente (3812-4952-7043). "The role of ADH1B in alcohol consumption and stroke susceptibility". Trabalho apresentado em 16ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Porto, Portugal, 2012.
  41. Duque, F.; Almeida, J.; Abreu, R. L.; Matoso, E.; Carreira, I. M.; Vicente, A.; Oliveira, G.; et al. "Chromosomal anomalies in a Portuguese ¿Idiopathic¿ autism sample". Trabalho apresentado em 8th Annual International Meeting for Autism Research (IMFAR), 2009.
Recurso online
  1. Astrid M Vicente; Fátima Lopes; Alexandra Costa; Maria Luís Cardoso; Fonseca, Raquel J.; Melissa Konopko; Arshiya Merchant; Ilse Custers; Scollen, Serena. Autor correspondente: Astrid M Vicente. A Roadmap for Genomics in Healthcare. 2023. https://zenodo.org/records/10067169.
  2. Astrid M Vicente; Garcia, Paula; Hemma Bauer; Wolfgang Ballensiefen. Optimizing clinical research for personalised medicine: recommendations for funders, regulators and policy makers. 2023. https://www.icpermed.eu/.
  3. Astrid M Vicente; Maria Fátima Lopes; Arshiya Merchant; Alexandra Costa; Xènia Perez; Maria Luís Cardoso; Melissa Konopko; Serena Scollen. Genomics in Healthcare: Key issues for implementation. Policy Brief. 2022. https://b1mg-project.eu/resources/.
  4. Astrid M Vicente; Patrícia Calado; Ana Sofia Carvalho; Ana Portugal Melo; OLIVEIRA, CARLA; Cátia Sousa Pinto; Cíntia Águas; et al. 4. Estratégia Nacional para a Medicina Genómica (PT_MedGen) - Desafios e prioridades. 2022. http://repositorio.insa.pt/bitstream/10400.18/8259/1/PT_MedGen.pdf.
  5. Astrid M Vicente. The ICPerMed Vision for 2023- How can Personalised approaches pave the way to next-generation medicine?. 2019. https://www.icpermed.eu/media/content/Vision_Paper_2019.pdf.
Relatório
  1. Costa, Alexandra; Cardoso, Maria Luís; Konopko, Melissa; Pérez Sitjà, Xènia; Lopes, Maria de Fátima; Merchant, Arshiya; Santos, Osvaldo; et al. 2022. B1MG - D5.1 B1MG maturity level model and country-specific alignment within the model. https://zenodo.org/records/6587561.
    10.5281/zenodo.6587560
  2. Caldas de Almeida, Teresa; Heitor, Maria João; Santos, Osvaldo; Costa, Alexandra; Virgolino, Ana; Rasga, Célia; Martiniano, Hugo; Vicente, Astrid. 2020. Saúde mental em tempos de pandemia - SM-COVID-19: relatório final. http://hdl.handle.net/10400.18/7245.
  3. Moura Vicente, Astrid. 2015. Sinais precoces de autismo - integração de informação comportamental e genética para deteção precoce de Perturbações do Espectro do Autismo numa população em risco: relatório final. http://hdl.handle.net/10400.18/3772.
Resumo em conferência
  1. Duque, Frederico; Rosmaninho-Salgado, J; Café, Cátia; Mouga, Susana; Sousa, Daniela; Oliveira, A; Ferreira, S.; et al. "Monogenic Disorders Associated with ASD in a Large Portuguese Sample". Trabalho apresentado em International Society for Autism Research (INSAR) 2018 Annual Meeting, Rotterdam, 2018.
    Publicado
  2. Almeida, Joana; Mouga, Susana; Café, Cátia; Duque, Frederico; Vicente, Astrid; Oliveira, Guiomar. "[P1.84]: Broad autism phenotype (BAP)¿personality styles and preferences in a sample of Portuguese families of children with autism spectrum disorders". Trabalho apresentado em 18th Biennial Meeting of the International Society for Developmental Neuroscience, Estoril, 2010.
    Publicado • 10.1016/j.ijdevneu.2010.07.124
  3. Almeida, Joana; Mouga, Susana; Abreu, Raquel; Café, Cátia; São Miguel, Teresa; Duque, Frederico; Lapa, Lígia; et al. "Broad Autism Phenotype (BAP) Personality Styles and Preferences in a sample of Portuguese families with autism spectrum disorders". Trabalho apresentado em International Meeting for Autism Research (IMFAR) 2010., Philadelphia, 2010.
    Publicado
  4. Oliveira, Guiomar; Almeida, Joana; Lontro, Raquel; Café, Cátia; Mouga, Susana; Lobo, Cristina; São Miguel, Teresa; et al. "Etiologic investigation of 654 patients with Autism Spectrum Disorder (ASD): the experience at Hospital Pediátrico de Coimbra in Portugal". Trabalho apresentado em International Meeting for Autism Research 2008, London, 2008.
    Publicado
Tese / Dissertação
  1. "The Neurodevelopmental Hypothesis of Schizophrenia". Doutoramento, Universidade de Coimbra Faculdade de Ciencias e Tecnologia, 1996.
  2. "CYP2C7 – Estudos de expressão e regulação pelo substrato Ácido Retinóico". Mestrado, Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, 1992.
  3. "Biologia Molecular do Virus da Hepatite B e sua deteção em doentes de alto risco". Licenciatura, 1988.

Outros

Outra produção
  1. Prevalência da perturbação do espectro do autismo na região Centro de Portugal: Um estudo no âmbito do projeto ASDEU. A prevalência da perturbação do espectro do autismo (PEA) em crianças foi estimada na região Centro de Portugal, no âmbito do projeto Autism Spectrum Disorders in the European Union (ASDEU). A metodologia de estudo baseou-se no rastreio de crianças entre os 7 e 9 anos matricula- das, no ano letivo de 2016/2017, em escolas primárias desta região. O rastreio incluiu todas as escolas com unidades de. 2021. Rasga, Célia; Santos, João; Café, Cátia; Oliveira, Alexandra; Duque, Frederico; Nunes, Ana; Oliveira, Guiomar; Vicente, Astrid. http://hdl.handle.net/10400.18/8286.
  2. Autism Spectrum Disorder. 1) Identification of neurotransmitter and synaptic gene variants in ASD patients; 2) Are genetic variants targeting noncoding RNAs contributing to ASD risk?; 3) An integrative system biology approach to delineate complex genotype-phenotype associations in ASD; 4) Mining of genes relevant for ASD in large databases.. 2018. Moura Vicente, Astrid; Vilela, Joana; Marques, Ana Rita. http://hdl.handle.net/10400.18/5638.
  3. Mining of Genes Relevant to ASD in Large Databases. Introduction: Autism Spectrum Disease (ASD): Wide range of phenotypes; ASD is characterized by (1. deficits in social communication and social interaction; 2. restricted repetitive behaviors, interests, and activities); High heritability (e.g. strong genetic influence); Complex genetic etiology; Large number of involved genes (>800); Despite this ASD is still diagnosed with behavioral evaluations.. 2018. Martiniano, Hugo FMC; Asif, Muhammad; Vicente, Astrid; Correia, Luís. http://hdl.handle.net/10400.18/5639.
  4. Molecular basis of Autism Spectrum Disorder. Palestra a convite. 2015. Moura Vicente, Astrid. http://hdl.handle.net/10400.18/3577.
  5. Molecular basis of Autism Spectrum Disorder: towards a Systems Medicine approach. 2015. Moura Vicente, Astrid. http://hdl.handle.net/10400.18/3404.
  6. Pharmacogenomics. 2014. Moura Vicente, Astrid. http://hdl.handle.net/10400.18/2939.
  7. Molecular Genetics of Autism. 2013. Moura Vicente, Astrid. http://hdl.handle.net/10400.18/2027.
  8. Molecular Genetics of Autism. Palestra por convite no âmbito do Programa para Investigação Médica Avançada – Programa de Doutoramento para Médicos no Instituto Gulbenkian de Ciência. 2011. Moura Vicente, Astrid. http://hdl.handle.net/10400.18/824.
  9. Identificação de factores de susceptibilidade para os Distúrbios do Espectro do Autismo. Palestra por convite. 2011. Moura Vicente, Astrid. http://hdl.handle.net/10400.18/825.
  10. Autism Genome Project. Palestra por convite no âmbito do Mestrado em Biologia Humana da Faculdade de Ciências da Universidade de Lisboa. 2011. Moura Vicente, Astrid. http://hdl.handle.net/10400.18/814.
  11. Pharmacogenomics. Palestra por convite no âmbito do Programa para Investigação Médica Avançada – Programa de Doutoramento para Médicos no Instituto Gulbenkian de Ciência. 2011. Moura Vicente, Astrid. http://hdl.handle.net/10400.18/839.
Atividades

Apresentação oral de trabalho

Título da apresentação Nome do evento
Anfitrião (Local do evento)
2023/11/22 Personalised medicine – the future is now, Roundtable Discussion, EATRIS 10th Year Anniversary Conference, 21-22 November 2023, The Hague, The Netherlands
EATRIS (The Hague, Países Baixos)
2023/11/07 The Portuguese Strategy for Genomic Medicine and European context. Genome.PT, Symposium November 7, 2023, INSA, Lisbon, Portugal
Genome PT (Lisbon, Portugal)
2023/09/22 The B1MG Maturity Level Model & roadmap for genomics in healthcare. Global Alliance for Genomic Health (GA4GH) National Initiatives Forum, September 2023, San Francisco, USA
Global Alliance for Genomic Health (San Francisco, Estados Unidos)
2022/11/17 Towards genomic medicine implementation. 1+MG/B1MG Celebration Event, Brussels, Belgium, November 27, 2022
European Commission (Brusssels, Bélgica)
2022/09/23 The ICPerMed vision for Personalised Medicine in 2030 - Making progress towards implementation. Precision Medicine and Functional Genomics 2022, SIDRA Medicine, Doha, Qatar, September 22-26, 2022
SIDRA Medicine (Doha, Catar)
2020/11/30 The 1+Million Genome Initiative. Building genomics genomDE: National and European initiatives, Virtual, November 30, 2020
GenomeDE
2019/12 Compromissos para a implementação da Agenda Estratégica para o Futuro da Medicina de Precisão em Portugal Apresentação Publica. Panel Discussion, Ordem dos Médicos
(Lisboa, Portugal)
2019/11/16 Perspectives on data sharing in Europe. Panel Discussion In2 Genome Consortium Workshop
(Madrid, Espanha)
2019/11/15 The European 1+M Genomes Initiative 23ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Fundação Bissaya Barreto
(Coimbra, Portugal)
2019/11/07 The International Consortium for Personalised Medicine Cluster Event on Personalised Medicine, REA
(Madrid, Espanha)
2019/11/06 The ICPerMed Vision for 2030. How can personalised approaches pave the way to next-generation medicine? 2nd ICPerMed Workshop “Citizens, patients and implementation” Instituto de Salud Carlos III (ISCIII)
(Madrid, Espanha)
2019/10/10 Personalised Medicine and EU Cooperation ICPerMed Activities and Vision Genomics and Personalised Medicine in Public Health, Finland’s Presidency of the Council of the European Union
(Brussels, Bélgica)
2019/05/20 The International Consortium for Personalised Medicine International Clinical Trials Day, ECRIN
(Paris, França)
2019/05/10 The European 1M+ Genomes Initiative GenomePT Symposium
(Vairão, Vila do Conde, Portugal)
2019/05/07 Medicina Personalizada: Promessas e Desafios Seminário Ricardo Jorge, Instituto Nacional de Saúde Doutor Ricardo Jorge
(Lisboa, Portugal)
2019/03/20 1M Genomas Europeus: Ganhos e Desafios eHealth Summit 2019, Altice Arena – Sala Tejo, PT Meeting Center
(Lisboa, Portugal)
2018/12/10 A Farmacogenómica em Farmacovigilância - Projeto RAM-Predict Simpósio Inovação em farmacovigilância, INFARMED
(Lisbon, Portugal)
2018/11/07 Key factors for successful translation of personalised medicine research into an added value for the patients Personalized PREvention of Chronic Diseases (PRECeDI) MSCA-RISE project final conference: Recommendations for Personalized Medicine - the contribution of PRECeDI in the field of prevention
(Brussels, Bélgica)
2018/10/26 Medicina Personalizada: Promessas e Desafios 21º Congresso Nacional da Ordem dos Médicos
(Lisbon, Portugal)
2018/04 Causas ambientais do autismo e interações gene-ambiente: o que sabemos? Seminário PIN
(Lisbon, Portugal)
2016/09 Prevalence of Autism Spectrum Disorder in the central region of Portugal Autism Spectrum Disorders in the European Union (ASDEU) Mid-Term Technical Workshop
(Edimburgo, Reino Unido)
2016/06 Translating basic to clinical research and beyond, Panel Discussion Personalised Medicine Conference
(Brussels, Portugal)
2016/04 Maternal CNV transmission to sons with autism correlates with phenotypic traits in the Broad Autism Phenotype International Conference for Human Genetics (ICHG)
(Kyoto, Japão)
2015/06 Investigação no Autismo – deteção precoce IX Seminário APPDA
( Setúbal, Portugal)
2015/06 Molecular basis of Autism Spectrum Disorder: towards a Systems Medicine approach Genetics of intellectual disability – an update workshop; School of Health Sciences, University of Minho
(Braga, Portugal)
2014/05 Molecular basis of Autism Spectrum Disorders: towards a systems medicine approach; Neurodevelopmental Disorders Neuroscience to the Clinic Symposium, Fundação Champalimaud
(Lisboa, Portugal)
2013/11 PARK2 deletions identified in patients with Autism Spectrum Disorder (ASD) Annual Meeting of Sociedade Portuguesa de Genética Humana
2012/05 O que há de novo na investigação das Perturbações do Espectro do Autismo (PEA): Epidemiologia e Genética III Congresso Internacional sobre Síndrome de Asperger
( Estoril, Portugal)
2011/11 Molecular Genetics of Autism MD PhD Program, Instituto Gulbenkian de Ciência
(Lisboa, Portugal)
2011/01 Perturbações do Espectro do Autismo VII Seminário de Pediatria do Neurodesenvolvimento, Sociedade Portuguesa de Pediatria
(Porto, Portugal)
2010/11 Rare copy number variants in the ANXA1 gene in patients with autism spectrum disorders (selected for oral presentation) Annual Meeting of the American society for Human Genetics
(Washington, Estados Unidos)
2010/10 Genómica e Saúde Pública: o Autism Genome Project Instituto Nacional Saúde Doutor Ricardo Jorge
(Lisboa, Portugal)
2010/04 Identificação de factores de susceptibilidade para os Distúrbios do Espectro do Autismo Faculdade de Farmácia
(Lisboa, Portugal)
2009/05 BDNF/TRKB signalling pathway in autism: increased plasma BDNF levels and association of NTRK2 genetic variants in an autism population sample International Meeting for Autism Research
(Chicago, Estados Unidos)
2009 Molecular Genetics of Autism XXXIV Reunião Anual Sociedade Espanhola de Neurologia Pediátrica e III Reunião Ibérica de Neuropediatria
(Bilbao, Espanha)
2008 Finding Genes for Complex Neuropathology - Autism, Stroke, Alzheimer’s Disease Instituto Gulbenkian de Ciência
(Lisboa, Portugal)
2007/11 Molecular Genetics of Autism Sociedade Portuguesa de Genética Humana
(Lisboa, Portugal)
2007/09 Identificação de factores de susceptibilidade para doenças multifactoriais – novos desafios e novas abordagens Universidade de Évora
(Évora, Portugal)
2007/05 Prevalence of Autism in Portugal Third Autism Speaks-CDC International Autism Epidemiology Network Planning Meeting
2007/05 Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels International Meeting for Autism Research
(Seattle, Estados Unidos)
2007/05 Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and inthe determination of platelet serotonin levels International Meeting for Autism Research
(Seattle, Estados Unidos)
2006/11 Association of the GAD1 candidate gene with autism XIV World Congress on Psychiatric Genetics
(Cagliari, Itália)
2006/09 A prevalence study of autism in Portugal Panel of Experts on Autistic Spectrum Disorders - European Autism Information System (EAIS) Project
(Luxemburgo)
2006/05 Genética Molecular dos Distúrbios do Espetro do Autismo Universidade de Évora
(Évora, Portugal)
2006/05 Epidemiology of Autism in Portugal Autism Speaks-CDC International Autism Epidemiology Network Planning Meeting
2005/11 Genetic and Immune factors in Autism Spectrum Disorders Annual Meeting of the Portuguese Society for Immunology
(Portugal)
2005/01 Epidemiologia genética do Autismo Seminários de Investigação Dr. Ricardo Jorge, INSA
(Lisboa, Portugal)
2004/12/29 Curso “Genes and Neurons"
2003/11 Serotonin transporter gene variants and platelet serotonin levels in autism spectrum disorders International Autism Europe Congress
(Lisboa, Portugal)
2003/11 Autism Spectrum Disorders: association studies with the BDNF gene International Autism Europe Congress
(Lisboa, Portugal)
2003/11 Serotonin transporter gene variants and platelet serotonin levels in autism spectrum disorders International Autism Europe Congress
(Lisboa, Portugal)
2003/03 BDNF and susceptibility to autism in a Portuguese population Autism Genome Project Annual Meeting
2002/11 Autismo – Avanços Genéticos. Síndrome de Rett e Perturbações do Espectro Autista Simpósio, IBMC
2002/02 Genética do Autismo Ciclo de seminários de investigação aplicada em saúde, Escola Superior de Tecnologias da Saúde de Coimbra
(Coimbra, Portugal)
2000/11 Genética das Doenças do Comportamento Programa Ciência Viva – Ciclo de Colóquios: A Ciência e o Futuro da Saúde. Pavilhão do Conhecimento
(Lisboa, Portugal)
2000/03 Genética do Autismo Workshop “Outro dia com...o autismo infantil”
(Luso, Portugal)
1999/12 Epidemiologia Genética do Autismo – investigação na população portuguesa Hospital Egas Moniz
(Lisboa, Portugal)
1999/11 Doenças Genéticas – Novas Perspectivas Programa Ciência Viva - Semana da Ciência e Tecnologia. Instituto Gulbenkian de Ciência
(Lisboa, Portugal)
1999/06 Elucidação das Bases Genéticas de Doenças Complexas Serviço de Endocrinologia, Instituto Português de Oncologia
(Lisboa, Portugal)
1997/05 Genética do Comportamento Sociedade Ciências Médicas de Lisboa
(Lisboa, Portugal)
1997/04 Estudos Genéticos em Esquizofrenia IBILI
(Coimbra, Portugal)
1997/04 Bases Moleculares do Comportamento: “Of Mice and Men” 3º Congresso Ibérico de Terapia Comportamental e Cognitiva
(Estoril, Portugal)
1995/05 Neurodevelopmental Genes and Schizophrenia: Hypothesis and Genetic Studies Biomedical Department, McMaster University
(Ontário, Canadá)
1992/04 Antibody-Selected Candidate Gene for Schizophrenia: Support for the Neurodevelopment Hypothesis Hospital for Sick Children
(Toronto, Canadá)

Orientação

Título / Tema
Papel desempenhado
Curso (Tipo)
Instituição / Organização
2023 - Atual Using polygenic risk scores to address the heterogeneity of Autism Spectrum Disorder - Mestrado em Bioinformática e Biologia Computacional
Coorientador
Universidade de Lisboa Faculdade de Ciências, Portugal
2023 - Atual Prediction of Genes associated with Autism Spectrum Disorder using Graph Embedding methods –Mestrado em Bioinformática e Biologia Computacional
Coorientador
Universidade de Lisboa Faculdade de Ciências, Portugal
2023 - 2027 Healthcare 4.0: Developing management science and analytics models and tools to support the design and implementation of genomic-related policies and services in Portugal
Coorientador
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2017 - 2024 Role of neurotransmission and synaptic processes in Autism Spectrum Disorder – a systems medicine approach BioSys PhD Program, Faculdade de Ciências da Universidade de Lisboa;
Orientador de Joana Vilela;
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016 - 2024 A role for RNA regulatory processes in Autism Spectrum Disorder; BioSys PhD Program
Orientador
Universidade de Lisboa Faculdade de Ciências, Portugal
2016 - 2023/01 Gene-environment interactions in Autism Spectrum Disorders – BioSys PhD Program, Faculdade de Ciências da Universidade de Lisboa;
Orientador de João Pedro Santos;
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2022 - 2023 Developing machine learning approaches to discover gene-disease associations from biological network data - Mestrado em Bioinformática e Biologia Computacional
Coorientador
Universidade de Lisboa Faculdade de Ciências, Portugal
2021 - 2022 Gene-Environment Interactions in ASD: Targeted Sequencing to Identify Variants in XenoReg Genes - M.Sc. Molecular Life Sciences
Coorientador
University of Hamburg, Alemanha
2021 - 2022 Exploring environmental factors and gene-environment interactions in Autism Spectrum Disorder: a pilot study - Mestrado em Biologia Humana e Ambiente
Orientador
Universidade de Lisboa Faculdade de Ciências, Portugal
2014 - 2018 A Systems Medicine approach to improve diagnosis and prognosis in Autism Spectrum Disorders (ASD), based on extensive genomic, biochemical and clinical data – BioSys PhD Program, Faculdade de Ciências da Universidade de Lisboa;
Orientador de Muhammad Asif
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2015 - 2016 Molecular genetics of psychological resilience – Mestrado em Biologia Molecular e Genética
Orientador
Universidade de Lisboa Faculdade de Farmácia, Portugal
2014 - 2015 Genética molecular dos distúrbios do espetro do autismo: análise de variantes raras e miRNAs – Mestrado em Biologia Molecular e Genética
Orientador
Universidade de Lisboa Faculdade de Ciências, Portugal
2013 - 2014 Carotid sinus nerve resection: therapeutic tool for treatment of type 2 diabetes - Mestrado em Biologia Molecular e Genética
Coorientador
Universidade de Lisboa Faculdade de Ciências, Portugal
2011 - 2012 Epidemiologia genética do Acidente Vascular Cerebral: identificação de genes envolvidos na susceptibilidade e na recuperação do doente – Mestrado em Biologia Humana e Ambiente
Orientador
Universidade de Lisboa Faculdade de Ciências, Portugal
2007 - 2011 Genetic factors involved in susceptibility to stroke and in outcome after 3 and 12 months - Faculdade de Ciências da Universidade de Lisboa;
Orientador de Helena Manso
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2007 - 2010 Autism Genome Project – Genetic epidemiology analysis - Tiago Magalhães; Autism Genome Project;
Orientador de Tiago Magalhães
Post doctoral fellow
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2008 - 2009 Influência do gene codificante da Heme Oxigenase I (HMOX1) nos acidentes vasculares cerebrais - Mestrado Integrado em Engenharia Biológica
Orientador
Universidade do Algarve, Portugal
2008 - 2009 O envolvimento da via de sinalização FGF/FGFR na etiologia do autismo: análise genética - Mestrado em Biotecnologia
Orientador
Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2004 - 2009 Genetic factors in autism spectrum disorders (ASD) and in variability in individual response to risperidone therapy; Programa de Doutoramento Instituto Gulbenkian de Ciência
Orientador
Universidade Lusíada de Lisboa Faculdade de Ciências Humanas e Sociais, Portugal
2008 - 2008 Envolvimento da via de sinalização BDNF/TRKB na etiologia do autismo: estudos de associação e interacção genética - Mestrado em Biologia Humana e Ambiente
Orientador
Universidade de Lisboa Faculdade de Ciências, Portugal
2006 - 2008 Regulation of serotonin and BDNF levels in autism - FCT;
Orientador de Marta Barreto
Post doctoral Fellow
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2000 - 2005 Behavior genetics: identification and characterization of genetic susceptibility factors for Autism Spectrum Disorders - Faculdade de Ciências da Universidade de Lisboa;
Orientador de Ana Margarida Coutinho
Instituto Gulbenkian de Ciência, Portugal
2000 - 2005 Identification and characterization of genetic susceptibility factors for Systemic Lupus Erythematosus - Faculdade de Ciências da Universidade de Lisboa;
Orientador de Marta Barreto;
Instituto Gulbenkian de Ciência, Portugal

Organização de evento

Nome do evento
Tipo de evento (Tipo de participação)
Instituição / Organização
2023 - Atual Health Technology Assessment and health economics of genomics in healthcare – key elements for implementation Workshop, no contexto do WP5 do projeto Beyond 1 Million Genomes, 18 de abril de 2023. Internacional https://b1mg-project.eu/news-events/ (2023/04/18)
Encontro
2022/03/24 - Atual The B1MG Maturity Level Model Pilot Kick-Off Meeting (formato virtual), no contexto do WP5 do projeto Beyond 1 Million Genomes - 24 de Março de 2022. Internacional (Anexo F2) (2022)
Encontro (Coorganizador)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2022 - Atual Reunião de lançamento do projeto Stepping stones for implementation of a national strategy for genomic medicine in Portugal, financiado pela Direção-Geral do Apoio às Reformas Estruturais (DG_REFORM) da Comissão Europeia, INSA, 20 de dezembro 2022. Nacional. (2022)
Encontro (Coorganizador)
2022 - Atual Conferência PT_MedGen - Estratégia Nacional para a Medicina Genómica, INSA, 3 de Novembro de 2022. Nacional. https://www.insa.min-saude.pt/wp-content/uploads/2022/11/AP_ConferenciaPT_MedGen.pdf (2022/11)
Encontro (Presidente da Comissão Organizadora)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2011/09 - Atual Biobanking for Health Research, INSA, Lisbon, September 2011 (2011)
Oficina (workshop) (Coorganizador)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2000/03 - Atual “Outro dia com...o autismo infantil”. Workshop, Luso, March 2000 (2000)
Oficina (workshop) (Coorganizador)
Instituto Gulbenkian de Ciência, Portugal
2000/03 - Atual Autism Diagnostic Interview – Revised Workshop. Instituto Gulbenkian de Ciência, Oeiras, March 2000 (2000)
Oficina (workshop) (Coorganizador)
Instituto Gulbenkian de Ciência, Portugal
2022/10/18 - 2022/10/19 B1MG Maturity Level Model Pilot Workshop, Beyond 1 Million Genomes, INSA, 18 e 19 de Outubro de 2022. Internacional. https://b1mg-project.eu/news-events/ (2022)
Encontro (Coorganizador)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2021/06/16 - 2021/06/17 Regulating the Unknown - Country Exchange Visit to Finland (Virtual), no contexto do WP5 do projeto Beyond 1 Million Genomes, 16-17 June 2021. Internacional https://drive.google.com/drive/u/0/folders/1vI-6RrD5tHYYDmUMDu4wSNELR41aJtkW (2021)
Oficina (workshop) (Coorganizador)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2021/05/19 - 2021/05/20 Genomics Towards Prevention - Country Exchange Visit to Estonia (Virtual), no contexto do WP5 do projeto Beyond 1 Million Genomes,19-20 May 2021. Internacional https://drive.google.com/drive/u/0/folders/1vI-6RrD5tHYYDmUMDu4wSNELR41aJtkW (2021)
Oficina (workshop) (Coorganizador)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2021/03/23 - 2021/03/24 Research to Clinical Practice; From Genomics England to the NHS - Country Exchange Visit to the United Kingdom (Virtual), no context do WP5 do projeto Beyond 1 Million Genomes, 23-24 march 2021. International https://drive.google.com/drive/u/0/folders/1vI-6RrD5tHYYDmUMDu4wSNELR41aJtkW (2021)
Oficina (workshop) (Coorganizador)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2017/10/24 - 2017/10/25 ICPerMed Executive Committee Meeting, Hosted by INSA and FCT, INFARMED, Lisbon, 24-25 de Outubro 2017. Internacional https://www.icpermed.eu/en/377.php (2017)
Encontro (Coorganizador)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2011/11/10 - 2011/11/12 15ª Reunião Annual da Sociedade Portuguesa de Genética Humana, Pavilhão do Conhecimento, Lisboa, Portugal – 10-12 de Novembro de 2011 (2011)
Congresso (Presidente da Comissão Organizadora)
Sociedade Portuguesa de Genética Humana, Portugal

Júri de grau académico

Tema
Tipo de participação
Nome do candidato (Tipo de grau)
Instituição / Organização
2019 Maria de Fátima e Costa Torres, PhD thesis in Patologia e Genética Molecular submitted to University of Porto, 2019 (main examiner)
Arguente principal
Maria de Fátima e Costa Torres (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2014 Application of data mining techniques to identify disease susceptibility from genotype data. Orlando Cruz Anunciação, PhD thesis submitted to the University of Lisbon, 2014 (main examiner);
Arguente principal
Orlando da Cruz Anunciação (Doutoramento)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2010 Genetic and optogenetic engineering as a strategy to probe neuronal circuits. João M. Peça, thesis submitted to the University of Coimbra, 2010 (main examiner);
Arguente principal
João Peça (Doutoramento)
2010 Stroke Genetics and Genomics. Tiago Krug Coelho, thesis submitted to the University of Lisbon, 2010 (main examiner).
Arguente principal
Tiago Krug Coelho (Doutoramento)
Universidade de Lisboa Faculdade de Medicina, Portugal
2008 Genetics in the identification of molecular pathogenic mechanisms of familial migraine. Maria José Melo e Castro, thesis submitted to the University of Porto, 2008 (main examiner);
Arguente principal
Maria José Melo e Castro (Doutoramento)
2005/09 A candidate gene search for autismo. Judith Conroy, thesis submitted to the University of Dublin, September 2005 (main examiner);
Arguente principal
Judith Conroy (Doutoramento)
University of Dublin Trinity College, Irlanda

Comissão de avaliação

Descrição da atividade
Tipo de assessoria
Instituição / Organização Entidade financiadora
2017 - Atual Grant Application Evaluator – Vice-Chair, Innovative Training Networks (ITN), Horizon 2020, 2017, 2018, 2019, 2020
Avaliador
2015 - 2015 12. Grant Application Evaluator, Future and Emerging Technologies Research and Innovation (FET OPEN), Horizon 2020, 2015
Avaliador
2015 - 2015 Grant Application Reviewer, Deuxiéme Programme d’Investissemnets d’Avenir RHU, funding agency Agence Nationale pour la Recherche (ANR), France, 2015
Avaliador
2014 - 2014 Grant Application Reviewer, Programme Appel à Projects Generique, APP Transitions et Interfaces entre Laboratoires de recherche et recherche clinique, funding agency Agence Nationale pour la Recherche (ANR), INSERM, France
Avaliador
2012 - 2012 Grant Application Reviewer, funding agency Ontario Mental Health Foundation, OMHF grants type A 2012 , Canada
Avaliador
2011 - 2011 17. Grant Application Reviewer, Applied Research project Dossier number 40-00703-97-374, funding agency ZonMw, The Netherlands,
Avaliador
2010 - 2010 Grant Application Reviewer, funding agency German Research Foundation (DFG), eBER-10-9844, 2010 Germany
Avaliador
2009 - 2009 Grant application reviewer, funding agency Autism Speaks, USA 2009
Avaliador
2009 - 2009 Grant Application Reviewer, BiotecS 2009, funding agency Agence Nationale pour la Recherche (ANR), INSERM Transfert, France
Avaliador

Curso / Disciplina lecionado

Disciplina Curso (Tipo) Instituição / Organização
2014/04/01 - 2019/05/01 Coordinator and lecturer of the Systems medicine, genomics and personalized medicine module for the PhD Programme BioSys -Biological Systems, Functional & Integrative Genomics, Faculdade de Ciência da Universidade de Lisboa (Doctor of Philosophy)

Entrevista / Programa (rádio / tv)

Programa Tema
2020/01/30 - 2020/01/30 Programa Sociedade Civil Autismo

Membro de comissão

Descrição da atividade
Tipo de participação
Instituição / Organização
2022 - Atual ICPerMed Steering Board
Membro
2018/07 - Atual Representative of the Ministry of Health for the 1M Genome Initiative, in the context of the European Declaration of Cooperation "Towards access to at least 1 million sequenced genomes in the European Union by 2022”.
Membro
European Commission, Bélgica
2015/04 - Atual Member of the ICPerMed Executive Committee in representation of the Ministry of Health
Membro
International Consortium for Personalised Medicine, Bélgica
2023 - 2027 Management Committee Member, A European consortium to determine how complex, real-world environments influence brain development (ENVIRO-DEV) COST Action CA22111
Membro
2021 - 2023 Commission for the development of the National Strategy for Genomic Medicine, by nomination from the Ministry of Health of Portugal
Coordenador
2010 - 2015 Management Committee, Core Group Member e STSM Coordinator, COST action BM1004 - Enhancing the Scientific Study of Early Autism (ESSEA)
Outro
2007 - 2014 Senior Investogator Committee Member, Autism Genome Project Consortium
Membro

Tutoria

Tópico Nome do aluno
2021 - 2024 Delivering Personalised Medicine cross-borders: Implementation in Healthcare systems and Societal Impact Maria de Fátima Lopes
2021 - 2023 Gene-environment interaction in Autism Spectrum Disorders (GEnvIA) – recruitment and phenotypic database management and analysis Clarissa Faria.
2021 - 2022 Gene-environment interaction in Autism Spectrum Disorders (GEnvIA) ¿ Data analysis. Pedro Sampaio.
2018 - 2020 Synaptic networks and personalized medicine approaches to understand neurobehavioral disease across Sonija Luzi
2018 - 2020 Synaptic networks and personalized medicine approaches to understand neurobehavioral disease across the lifespan – phenotype-genotype analysis for ASD Celia Rasga
2016 - 2018 Big data mining for systems biology. Hugo Martiniano
2015 - 2018 Prevalence study of Autism Spectrum Disorder in a region of Portugal. Célia Rasga.
2010 - 2014 Expression profiling and population analysis of Copy Number variants in Autism Spectrum Disorder. Ines Conceição
2010 - 2014 Strategies for GWAS analysis: gene-centric approach, network-based analysis and CNV Catarina Correia
2010 - 2011 Analysis of rare variants in the Autism Genome Project dataset. Inês Sousa.
2009 - 2010 Autism Genome Project - Analysis of Copy Number Variants in the AGP GWAS. Catarina Correia
2007 - 2010 Autism Genome Project – Genetic epidemiology analysis. Tiago Magalhães
2007 - 2008 Autism Genome Project – Molecular genetic analysis. Inês Cabrito.
2006 - 2008 Regulation of serotonin and BDNF levels in autism. Marta Barreto
2005 - 2007 Molecular genetics of autism and other mental disorders Madalena Martins.
Distinções

Prémio

2006 Prémio Amélia da Silva de Mello para as Ciências da Saúde - Menção Honrosa
2006 Menção Honrosa do Prémio Bial - Autismo em Portugal: epidemiologia, investigação genética molecular
Fundação Bial, Portugal
2006 Prémio APIFARMA para Mobilidade 2006.
Associação Portuguesa da Indústria Farmacêutica, Portugal
2005 Prémio Pfizer de Investigação Clínica
2005 Prémio NEDAI da Sociedade Portuguesa de Medicina Interna
2000 Prémio de Investigação Básica
Sociedade Portuguesa de Diabetologia, Portugal

Outra distinção

2019 Member of the Coordination Group of the 1M Genome Initiative, in the context of the European Declaration of Cooperation "Towards access to at least 1 million sequenced genomes in the European Union by 2022”.
2018 Elected Vice-Chair, International Consortium for Personalised Medicine
International Consortium for Personalised Medicine, Bélgica
2011 President elected, Sociedade Portuguesa de Genética Humana
2007 Elected Member, Comissão Coordenadora do Conselho Científico, Instituto Nacional de Saude Doutor Ricardo Jorge (2007-2015)