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Milena Paneque completed a PhD in Biomedical Sciences in 2008 at the Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto. She is dual trained as Genetic counsellor (MSc, 2002) and Psychologist (1998). Currently, is integrated at i3S (Instituto de Investigação e Inovação em Saúde) and is an Invited Assistant Professor at ICBAS. Published 72 articles in peer-reviewed journals. Has 2 books chapters. Organized 8 event(s) of Patients associations and public outreach. Supervised 7 PhD thesis(es) e co-supervised 3. Supervised 6 MSc dissertation(s) e co-supervised 2. Has received 2 awards and/or honors. She is Co-Principal Investigator (Co-PI) in FCT funded project "Deliberations on genetic risks: decision making and communication of genetic counseling to the family" and Principal investigator in other 3 projects. In their professional activities interacted with 483 collaborator(s) co-authorship of scientific papers. Iin the field of "Genetic Counselling"; "Medical Genetics" ; "Psychosocial Genetics"; "Health Psychology"; "Rare diseases"; "Patients associations". Over time she became involved in relevant international networks such as Transnational Alliance of Genetic Counseling (TAGC) that promotes communication and collaboration in GC, transnationally and the European Network of Genetic Counsellors and Nurses (ENGCN). She is the current President of the National Association of Portuguese genetic counsellors.
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Identification

Personal identification

Full name
Milena Paneque

Citation names

  • Paneque, Milena

Author identifiers

Ciência ID
E217-41D1-AFDB
ORCID iD
0000-0002-6535-4315
Google Scholar ID
https://scholar.google.com/citations?user=FWxyZp0AAAAJ&hl=pt-PT
Researcher Id
J-2856-2013
Scopus Author Id
6701795710

Email addresses

  • milenaph@ibmc.up.pt (Professional)

Telephones

Telephone
  • 226074942 (Professional)

Addresses

  • CGPP-IBMC. R. Júlio Amaral de Carvalho, 45 , 4200-135, Porto, Porto, Portugal (Professional)

Websites

Knowledge fields

  • Medical and Health Sciences - Health Sciences - Social Biomedical Sciences
  • Medical and Health Sciences - Health Sciences - Health Care Sciences and Services
  • Social Sciences - Psychology

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese Proficiency (C2) Proficiency (C2) Proficiency (C2) Proficiency (C2) Proficiency (C2)
Spanish; Castilian (Mother tongue)
English Proficiency (C2) Proficiency (C2) Advanced (C1) Proficiency (C2) Proficiency (C2)
Education
Degree Classification
2009/04/01 - 2016/04/01
Concluded
 Pós-doctoral researcher (Pós-doutoramento)
Major in Genetic counselling
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

University of Plymouth Faculty of Health and Human Sciences, United Kingdom
2004/10/01 - 2008/11/08
Concluded
 Ciências Biomédicas (Doutoramento)
Major in Sem especialidade
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Impacto Psicosocial de Pruebas Genéticas Predictivas en Enfermedades Neurodegenerativas de Inicio Tardío" (THESIS/DISSERTATION)
 Aprovado por Unanimidade
2001/01/01 - 2002/07/26
Concluded
 Mestrado em Aconselhamento Genético (Mestrado)
Major in Aconselhamento Genético
Instituto de Ciencias Médicas Victoria de Girón, Cuba
"Programa Predictivo para la Ataxia Espinocerebelosa tipo 2" (THESIS/DISSERTATION)
 20 valores
Affiliation

Teaching in Higher Education

Category
Host institution 		Employer
2020/10/01 - Current Invited Assistant Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto, Portugal

Other Careers

Category
Host institution 		Employer
1998/09/01 - 2004/10/01 Assessor Superior (Técnico Superior de Saúde - Engenharia Sanitária) Clínica de Investigación y Rehabilitaciójn de Ataxias Hereditárias - CIRAH, Portugal

Others

Category
Host institution 		Employer
2016/05/01 - Current Técnico Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2010/01/01 - 2016/12/31 Bolseira de Pós-doutoramento Fundação para a Ciência e a Tecnologia, Portugal
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
(...)
2004/10/01 - 2008/09/30 Bolseira de Doutoramento Fundação para a Ciência e a Tecnologia, Portugal
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Projects

Grant

Designation Funders
2019/01/01 - Current Improving genetic healthcare services: the first genetic counselling multicentric randomized control trial in Portugal.
SFRH/BD/145679/2019
Supervisor
Faculty of Medicine, University of Porto, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2018/01/01 - Current Portuguese families with late-onset familial amyloid polyneuropathy (FAP ATTRV30M): psychosocial experiences and challenges for genetic counselling.
SFRH/BD/138012/2018
Supervisor
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2023/03/15 - 2026/02/14 DECIDE - Deliberações sobre riscos genéticos: tomada de decisão e comunicação do aconselhamento genético à família
2022.04025.PTDC
Co-Principal Investigator (Co-PI)
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2010/01/02 - 2016/04/01 The genetic counselling process in late-onset neurological diseases: defining and measuring endpoints to assess its quality and improve its impact, in a multicentric study.
SFRH/BPD/66484/2009
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2010/01 - 2016/04 The genetic counselling process in late-onset neurological diseases: defining and measuring endpoints to assess its quality and improve its impact, in a multicentric study.
SFRH/BPD/66484/2009
 Fundação para a Ciência e a Tecnologia
2004/12/01 - 2008/11/03 Impacto Psicosocial de Pruebas Genéticas Predictivas En Enfermedades Neurodegenerativas De Inicio Tardio (Ataxia Espinocerebelosa Tipo 2 e Polineuropatia Amiloidótica Familiar ATTR V30M).
SFRH/BD/23117/2005
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2004/12 - 2008/11 Impacto Psicosocial de Pruebas Genéticas Predictivas En Enfermedades Neurodegenerativas De Inicio Tardio (Ataxia Espinocerebelosa Tipo 2 e Polineuropatia Amiloidótica Familiar ATTR V30M).
SFRH/BD/23117/2005
 Fundação para a Ciência e a Tecnologia

Contract

Designation Funders
2023 - 2026 DECIDE - Deliberações sobre riscos genéticos: tomada de decisão e comunicação do aconselhamento genético à família
2022.04025.PTDC
Co-Principal Investigator (Co-PI)
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Ongoing
2014/09/01 - 2017/08/31 Equipping European Primary Care Health Professionals to Deal with Genetics
014-1-UK01-KA204-000065
Principal investigator
University of Plymouth, United Kingdom
 Erasmus Academie
Concluded
Outputs

Publications

Book chapter
  1. Paneque, Milena. "Aconselhamento genético nas doenças raras.". In Livro Branco das Doenças Raras, edited by Batel Marques. Portugal: Edição P-Bio - Associação Portuguesa de Bioindústrias, 2020.
    Published
  2. Paneque, Milena. "Genetic Counselling Profession in Europe". 2016.
    [doi: 10.1002/9780470015902.a0005632.pub3]
Conference abstract
  1. Mendes, A; Paneque, M; Sequeiros, J. "Healthcare professionals' views about responsibility in the sharing of genetic information to patients' relatives". 2022.
  2. Barbosa, Maria; Policarpo, Mariana; Mendes, Álvaro; de Lemos, Marina Serra; Paneque, Milena. Corresponding author: Barbosa, Maria. ""Narrating ataxia: adapting the expressive writing paradigm for ataxia patients in the context of a genetic counselling narrative group intervention"". Porto, 2022.
  3. Herrera, MP; Serra Juhe, C; Pestoff, R; Cordier, C; Silva, J; Moldovan, R; Ingvoldstad, C. "Complementariness between medical geneticists and genetic counsellors: its added value in genetics services in Europe". 2019.
  4. Pereira, JD; Lemos, MS; Paneque, M. "Psychosocial experiences of young adults at risk for transthyretin familial amyloid polyneuropathy: early versus late-onset Portuguese case report". 2019.
  5. Mendes, A; Paneque, M; Clarke, A; Sequeiros, J; Mendes, A.; Paneque, Milena; Clarke, A.; Sequeiros, J.. "Choosing not to know: accounts of non-engagement with pre-symptomatic testing for late onset-neurological disorders". Paper presented in European Human Genetics Conference 2018, 2019.
  6. Carvalho, M; Paneque, M; Rodrigues, F; Saraiva, J; Leonardo, A; Sousa, AB; Machado, V; et al. "Patients' views: a new tool for quality assessment of genetic counselling". 2019.
  7. Costa, C; Lemos, MS; Lemos, C; Alves Ferreira, M; Sequeiros, J; Paneque, M. "A Portuguese Tool for Quality Assessment of Genetic Counselling by Genetics Healthcare Professionals". 2019.
  8. Costa, C; Alonso, I; Sequeiros, J; Paneque, M. "Patients' Voices in Portugal - when rare becomes common". 2019.
  9. Paneque, Milena. "European collaborative work to establish standards for Orphanet quality assessment of genetic counsellors". 2018.
    10.1038/s41431-018-0247-7
  10. Costa, C.; Paneque, Milena; Lemos, M. S.. "A new portuguese instrument for quality assessment of genetic counselling practice: the contribution of national genetics healthcare services". Paper presented in 20ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Coimbra, 2016.
  11. Cruz Marino, TC; Gonzalez Zaldivar, YG; Velazquez Santos, MV; Estupinan Quesada, AE; Aguilera Rodriguez, RA; Vazquez Mojena, YV; Reynaldo Arminan, RR; et al. "The Cuban program for SCA2 predictive diagnosis: A 1,000 patients review". 2011.
  12. Laffita Mesa, JM; Velazquez, LC; Gonzalez, Y; Vazquez, YA; Gotay, D; Cruz Marino, T; Rodriguez, Y; et al. "Large normal polyQ runs underlies the highest prevalence of SCA2 in Cuba". 2010.
Conference paper
  1. Paneque, Milena; Pereira José Diogo; Andreia Santos; Anan Intissar; Marina Serra Lemos. "The psychosocial experience of members of families with hereditary amyloid transthyretin amyloidosis with polyneuropathy: preliminary results of a mixed-methods systematic review.". Paper presented in 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana), Virtual, 2020.
    Published
  2. Paneque, Milena; Clara Serra-Juhé; Carolina Lemos; Joana Bengoa; Christopher Cordier; Ramona Moldovan; Sara Pasalodos. "Counselling supervision: are we practising in a safe environment at genetic services?". Paper presented in 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana), Virtual, 2020.
    Published
  3. Costa, C.; Alonso, I.; Sequeiros, J.; Paneque, Milena. "Patients’ Voices in Portugal - when rare becomes common". Paper presented in 22nd Annual Meeting of the Portuguese Society of Human Genetics., Porto, 2018.
    Published
  4. Costa, C.; Lemos, M. S.; Lemos, C.; Alves-Ferreira, M.; Sequeiros, J.; Paneque, Milena. "A Portuguese Tool for Quality Assessment of Genetic Counselling by Genetics Healthcare Professionals". Paper presented in 22nd Annual Meeting of the Portuguese Society of Human Genetics, 2018.
    Published
  5. Carvalho, M.; Paneque, Milena; Rodrigues, F.; Saraiva, J.; Leonardo, A.; Sousa, A.; Machado, V.; et al. "Patients’ views: a new tool for quality assessment of genetic counselling.". Paper presented in 22nd Annual Meeting of the Portuguese Society of Human Genetics, Porto, 2018.
    Published
  6. Pereira, J. D.; Lemos, M. S.; Paneque, Milena. "Psychosocial experiences of young adults at risk for transthyretin familial amyloid polyneuropathy: Early versus late-onset Portuguese case report.". Paper presented in 22nd Annual Meeting of the Portuguese Society of Human Genetics, Porto, 2018.
    Published
Conference poster
  1. Barbosa, Maria; Dias, Sofia Fontoura ; Júlio, Filipa; Paneque, Milena; Sales, Célia ; Sequeiros, Jorge; Sousa, Liliana; Mendes, Álvaro. Corresponding author: Barbosa, Maria. "What process studies in genetic counseling can teach us about the communication of genetic information to family members: a scoping review". Paper presented in World Congress of Genetic Counselling, 2023.
  2. Barbosa, Maria; Policarpo, Mariana; de Lemos, Marina Serra; Paneque, Milena; Mendes, Álvaro. Corresponding author: Barbosa, Maria. ""Narrating ataxia: psychosocial impact of an online genetic counselling narrative group intervention for persons with hereditary ataxia"". 2023.
  3. Paneque, Milena; Mariana Policarpo; Maria Barbosa; Marina Lemos; Mendes, Álvaro. "An online genetic counselling narrative group as a tool for supporting patients with hereditary ataxias in Portugal". 2022.
  4. Barbosa, Maria; Policarpo, Mariana; Paneque, Milena; de Lemos, Marina Serra; Mendes, Álvaro; Maria Barbosa; Mariana Polarpo; Marina Lemos. Corresponding author: Barbosa, Maria. "Psychological impacts of an online genetic counseling narrative group intervention in people with hereditary ataxia". Paper presented in 36th Annual Conference of the European Health Psychology Society, 2022.
  5. Mariana Policarpo; Mendes, Álvaro; Marina Serra de Lemos; Paneque, Milena. "Genetic counselling narrative intervention group as a tool to support patients with hereditary ataxias in Portugal". Paper presented in 25th Annual Meeting of the Portuguese Society of Human Genetics, 2021.
  6. Mendes, Álvaro; Sequeiros, Jorge; Paneque, Milena; Mendes, A; Paneque, M; Sequeiros, J. "Disclosure of genetic information to patients’ relatives: healthcare professionals’ perspective on perceived responsibilities and confidentiality of genetic information.". Paper presented in 25th Annual Meeting of the Portuguese Society of Human Genetics, 2021.
  7. Paneque, Milena. "Mapping counselling supervision at European level". Paper presented in European Society of Human Genetics Conference, 2020.
  8. Paneque, Milena. "A new measure for genetic counselling quality assessment: patients’ perspectives.". Paper presented in European Society of Human Genetics Conference, 2020.
  9. Carvalho, M.; Pereira, J. D.; Costa, C.; Mendes, A.; Lemos, M. S.; Paneque, Milena. "O Estágio no Contexto do Aconselhamento Genético como Experiência de Formação em Ética e Deontologia". Paper presented in Seminário Luso-Brasileiro de Ética na Investigação em Psicologia e Educação, 2019.
  10. Carvalho, M.; Paneque, Milena; Sequeiros, J.; Lemos, M. S.. "Construção e Validação da Escala de Avaliação da Qualidade do Aconselhamento Genético pelos Consultandos". Paper presented in V Congresso Ibero-Americano e Luso-Brasileiro de Psicologia da Saúde/ I Congresso Promoção da Saúde e do Bem-Estar no Ensino Superior, 2019.
  11. Carvalho, M.; Paneque, Milena; Sequeiros, J.; Lemos, M. S.. "From pre-test to preliminar results: the construction of a new tool for quality assessment of genetic counselling by patients". Paper presented in 12ª Edição do Encontro de Investigação Jovem da Universidade do Porto, 2019.
  12. Svensson, K.; Pestoff, R.; Paneque, Milena; Ingvoldstad, C.. "An alternative pathway for countries without a training program for genetic counsellors: the Swedish experience". Paper presented in European Human Genetics Conference 2018, 2018.
  13. Paneque, Milena; Serra-Juhé, C.; Pestoff, R.; Cordier, C.; Silva, J.; Moldovan, R.; Ingvoldstad, C.. "Complementariness between medical geneticists and genetic counsellors: its added value in genetics services in Europe.". Paper presented in European Human Genetics Conference 2018, 2018.
  14. Paneque, Milena; Costa, C.; Sequeiros, J.; Lemos, M. S.. "A new instrument for quality assessment of genetic counselling practice: the contribution of Portuguese genetics healthcare services.". Paper presented in European Human Genetics Conference 2017, 2017.
  15. Mendes, A.; Metcalfe, A.; Paneque, Milena; Sousa, L.; Clarke, A.; Sequeiros, J.. "Communicating information about genetic risks within the family: putting the family at the heart of it". Paper presented in European Human Genetics Conference 2017, 2017.
  16. Lambert, D.; Corrochano, V.; Palau, F.; Paneque, Milena; Moldovan, R.; Cordier, C.; Serra-Juhe, C.; et al. "European collaborative work to establish standards for Orphanet quality assessment of genetic counsellors". Paper presented in European Human Genetics Conference 2017, 2017.
  17. Pereira, J.; Costa, C.; Paneque, Milena; Sequeiros, J.; Mendes, A.. "Young adults' experiences with risk and with presymptomatic testing for late-onset neurological disorders: findings from a Portuguese qualitative study.". Paper presented in European Human Genetics Conference 2017, 2017.
  18. Curtisova, V; Houwink, E.J; Jackson, L.; Lunt, P.; Paneque, Milena; Stefansdottir, V; Turchetti, D.; et al. "Gen-Equip: Equipping European Primary Care Health Professionals to Deal with Genetics". Paper presented in European Human Genetics Conference 2016, 2016.
  19. Paneque, Milena; Turchetti, D.; Jackson, L.; Lunt, P.; Houwink, E.; Skirton, H.; Paneque, M.. "A systematic review of interventions to provide genetics education for primary care". Paper presented in European Human Gentics Conference 2016, 2016.
    10.1186/s12875-016-0483-2
  20. Paneque, Milena. "A competences-centred programme for genetic counsellors in Portugal. Transnational Alliance for Genetic Counseling (TAGC)". Paper presented in Fourth International Meeting, 2016.
  21. Paneque, Milena; Sequeiros, J.. "A competences-centred programme for genetic counsellors in Portugal.". Paper presented in Transnational Alliance for Genetic Counseling (TAGC). Fourth International Meeting. Barcelona, May 19 -20th, 2016. Poster, 2016.
  22. Paneque, Milena; Teixeira, Emerência; Borlido-Santos, J.; Arriscado Nunes, J; Porto, Graça. "Processos Colaborativos na Sensibilização Pública para a Hemocromatose Hereditária". Paper presented in I Encontro em Ensino e Divulgação das Ciências, 2015.
  23. Mendes, Alvaro; Paneque, Milena; Sousa, Liliana; Clarke, A.; Sequeiros, Jorge. "How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence". Paper presented in European Human Genetics Conference 2015, 2015.
  24. Teixeira, Emerencia; Borlido-Santos, J.; Paneque, Milena; Arriscado Nunes, J; Porto, Graça. "Comunicação de Ciência em Contexto Escolar – O que ainda é possível fazer?". Paper presented in 3º Congresso de Comunicação de Ciência., 2015.
  25. Teixeira, Emerencia; Borlido-Santos, J.; Paneque, Milena; Arriscado Nunes, J; Porto, Graça. "Public Awareness for Hereditary Hemochromatosis – The Portuguese Case Study". Paper presented in I3S Scientific Retreat 2014, 2014.
  26. Paneque, Milena; Mendes, Alvaro; Sequeiros, Jorge. "The practice of Genetic Counselling in Portugal: where are we and what are the challenges?". Paper presented in European Human Genetics Conference 2014, 2014.
  27. Teixeira, Emerência; Pinto da Silva, Sandra; Mendes, Álvaro; Borlido-Santos, Júlio; Paneque, Milena; Arriscado-Nunes, João; Porto, Graça. "Concurso Escolar "Hemo... Quê?": Caso de Estudo em Educação para a Saúde". Paper presented in SciCom PT 2014 - 2º Congresso de Comunicação de Ciência, 2014.
  28. Mendes, Alvaro; Teixeira, Emerência; Borlido-Santos, J.; Paneque, Milena; Arriscado Nunes, J; Porto, Graça. "Hemo… Quê?: Concurso Escolar para Divulgação da Hemocromatose Hereditária.". Paper presented in II Congresso Mundial de Comunicação Ibero-Americana., 2014.
  29. Teixeira, Emerência; Basto, Eduardo; Pinto da Silva, Sandra; Borlido-Santos, Júlio; Paneque, Milena; Pereira, Susana; Arriscado-Nunes, João; Porto, Graça. "Collaborative process on public awareness for hereditary hemochromatosis". Paper presented in 5th Living Knowledge Conference, 2012.
Journal article
  1. M. Paneque; R. O´Shea; A. Narravula; E. Siglen; A. Ciuca; A. Abulí; C. Serra-Juhé. "Correction to: Thirty-years of genetic counselling education in Europe: a growing professional area". European Journal of Human Genetics (2024): https://doi.org/10.1038/s41431-024-01571-5.
    10.1038/s41431-024-01571-5
  2. Catarina Costa; João Silva; Luís Filipe Azevedo; Marina Serra de Lemos; Milena Paneque. "A collaborative model for Medical Genetics services delivery in Portugal: a multidisciplinary perspective". Journal of Community Genetics (2024): https://doi.org/10.1007/s12687-024-00703-0.
    10.1007/s12687-024-00703-0
  3. Catarina Costa; Lídia Guimarães; Ruxanda Lungu Baião; Marina Serra de Lemos; Luís Filipe Azevedo; Milena Paneque. "The urgency for a change in genetics healthcare provision: views from Portuguese medical geneticists". Journal of Community Genetics (2024): https://doi.org/10.1007/s12687-024-00702-1.
    10.1007/s12687-024-00702-1
  4. Lídia Guimarães; Ruxanda Baião; Catarina Costa; Marina Lemos; Margarida Rangel Henriques; Milena Paneque. "Genetic counselling supervision: Luxury or necessity? A qualitative study with genetic healthcare professionals in Portugal". European Journal of Medical Genetics (2024): https://doi.org/10.1016/j.ejmg.2023.104908.
    10.1016/j.ejmg.2023.104908
  5. Koido, Kati; Malmgren, Charlotta Ingvoldstad; Pojskic, Lejla; Almos, Peter Z.; Bergen, Sarah E.; Borg, Isabella; Božina, Nada; et al. "Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study". European Journal of Medical Genetics 66 8 (2023): 104805. http://dx.doi.org/10.1016/j.ejmg.2023.104805.
    10.1016/j.ejmg.2023.104805
  6. Milena Paneque; Lídia Guimarães; Joana Bengoa; Sara Pasalodos; Christophe Cordier; Irene Esteban; Carolina Lemos; Ramona Moldovan; Clara Serra-Juhé. "An European overview of genetic counselling supervision provision". European Journal of Medical Genetics (2023): https://doi.org/10.1016/j.ejmg.2023.104710.
    10.1016/j.ejmg.2023.104710
  7. Gayà-Barroso, A.; González-Moreno, J.; Rodríguez, A.; Ripoll-Vera, T.; Losada-López, I.; Gili, M.; Paneque, M.; Pérez-Martínez, S.; Cisneros-Barroso, E.. "Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study". Orphanet Journal of Rare Diseases 18 1 (2023): http://www.scopus.com/inward/record.url?eid=2-s2.0-85176400515&partnerID=MN8TOARS.
    10.1186/s13023-023-02964-3
  8. C. Costa; M. S. Lemos; L. F. Azevedo; M. Paneque. "Service provision of genetics health care in Portugal". Journal of Community Genetics (2022): https://doi.org/10.1007/s12687-022-00617-9.
    10.1007/s12687-022-00617-9
  9. Mayla A. A. Dantas; Jorge Diogo Da Silva; Nataliya Tkachenko; Milena Paneque. "Telehealth in genetic counselling consultations: the impact of COVID-19 in a Portuguese genetic healthcare service". Journal of Community Genetics (2022): https://doi.org/10.1007/s12687-022-00618-8.
    10.1007/s12687-022-00618-8
  10. Aina Gayà-Barroso; Juan González-Moreno; Adrián Rodríguez; Tomás Ripoll-Vera; Inés Losada-López; Margarita Gili; Milena Paneque; Eugenia Cisneros-Barroso. "Establishing Occupational Therapy Needs: A Semi-Structured Interview with Hereditary Transthyretin Amyloidosis Patients". International Journal of Environmental Research and Public Health (2022): https://doi.org/10.3390/ijerph191811721.
    10.3390/ijerph191811721
  11. Paneque, Milena; Carreira, Isabel; Milena Paneque; Thomas Liehr; Clara Serra Juhé; Ute Moog; Bela Melegh; Isabel Carreira. Corresponding author: Paneque, Milena. "The need for recognition of core professional groups in genetics healthcare services in Europe". European Journal of Human Genetics (2022): https://www.nature.com/ejhg/.
    Accepted • 10.1038/s41431-022-01080-3
  12. Catarina Costa; Sequeiros, Jorge; Alonso, Isabel; Paneque, Milena. Corresponding author: Paneque, Milena. "Rare disease associations in Portugal: a relevant source of psychosocial support". Psicologia (2022): https://revista.appsicologia.org/index.php/rpsicologia/.
    In press
  13. Paneque, M.; Serra Juhé, C.; Melegh, B.; Carreira, I.; Moog, U.; Liehr, T.. "Erratum: The need for recognition of core professional groups in genetics healthcare services in Europe (Medizinische Genetik (2022) 34 (81-83), DOI: 10.1515/medgen-2022-2116),Erratum zu: über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa (Medizinische Genetik (2022) 34 (81-83) DOI: 10.1515/medgen-2022-2116)". Medizinische Genetik 34 2 (2022): 189-191. http://www.scopus.com/inward/record.url?eid=2-s2.0-85137901141&partnerID=MN8TOARS.
    10.1515/medgen-2022-2122
  14. Paneque, M.; Serra Juhé, C.; Melegh, B.; Carreira, I.; Moog, U.; Liehr, T.. "Über die Notwendigkeit der Anerkennung von sog. Kernberufsgruppen innerhalb der genetischen Gesundheitsversorgung in Europa". Medizinische Genetik 34 1 (2022): 81-83. http://www.scopus.com/inward/record.url?eid=2-s2.0-85130614071&partnerID=MN8TOARS.
    10.1515/medgen-2022-2116
  15. Costa, C.; Alonso, I.; Sequeiros, J.; Paneque, M.. "Rare disease associations in Portugal: An important source of psychosocial support,As associações de doenças raras em Portugal: Uma fonte importante de apoio psicossocial". PSICOLOGIA 36 2 (2022): 108-118. http://www.scopus.com/inward/record.url?eid=2-s2.0-85151543924&partnerID=MN8TOARS.
    10.17575/psicologia.1803
  16. Santos, Andreia Valentim; Pereira, José Diogo da Rocha; Paneque, Milena; Coelho, Vânia. "A experiência psicossocial de cuidadores informais de pessoas com paramiloidose: Um estudo qualitativo". PSICOLOGIA 35 2 (2021): 45-62. http://dx.doi.org/10.17575/psicologia.v35i2.1736.
    Published • 10.17575/psicologia.v35i2.1736
  17. Milena Paneque; Márcia Carvalho; Fidjy Rodrigues; Jorge Saraiva; Alexandra Leonardo; Ana B. Sousa; Vânia Machado; et al. "A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation". European Journal of Medical Genetics 64 12 (2021): 104375-104375. https://doi.org/10.1016/j.ejmg.2021.104375.
    10.1016/j.ejmg.2021.104375
  18. Pestoff, R.; Svensson, K.; Paneque, M.; Malmgren, C.I.. "Developing a national certification pathway for genetic counselors in Sweden—a short report". Journal of Community Genetics 11 1 (2020): 113-117. http://www.scopus.com/inward/record.url?eid=2-s2.0-85066778121&partnerID=MN8TOARS.
    10.1007/s12687-019-00426-7
  19. Milena Paneque; Joana Félix; Álvaro Mendes; Carolina Lemos; Susana Lêdo; João Silva; Jorge Sequeiros. "Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal". Acta Médica Portuguesa (2019): https://doi.org/10.20344/amp.10526.
    10.20344/amp.10526
  20. Moldovan, R.; McGhee, K.A.; Coviello, D.; Hamang, A.; Inglis, A.; Ingvoldstad Malmgren, C.; Johansson-Soller, M.; et al. "Psychiatric genetic counseling: A mapping exercise". American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 180 8 (2019): 523-532. http://www.scopus.com/inward/record.url?eid=2-s2.0-85067869429&partnerID=MN8TOARS.
    10.1002/ajmg.b.32735
  21. Álvaro Mendes; Milena Paneque; Angus Clarke; Jorge Sequeiros. "Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease". European Journal of Human Genetics (2018): https://doi.org/10.1038/s41431-018-0308-y.
    10.1038/s41431-018-0308-y
  22. Abacan M; Alsubaie L; Barlow-Stewart K; Caanen B; Cordier C; Courtney E; Davoine E; et al. "The Global State of the Genetic Counseling Profession.". European journal of human genetics : EJHG (2018): http://europepmc.org/abstract/med/30291341.
    10.1038/s41431-018-0252-x
  23. Cordier C; McAllister M; Serra-Juhe C; Bengoa J; Pasalodos S; Bjornevoll I; Feroce I; et al. "The recognition of the profession of Genetic Counsellors in Europe.". European journal of human genetics : EJHG (2018): http://europepmc.org/abstract/med/30254214.
    10.1038/s41431-018-0260-x
  24. C. Costa; M. S. Lemos; Milena Paneque. "The Contribution of the Reciprocal-Engagement Model as a Theoretical Framework of a Portuguese Scale for Quality Assessment of Genetic Counseling". Journal of Genetic Counseling (2018): https://doi.org/10.1007/s10897-018-0275-z.
    10.1007/s10897-018-0275-z
  25. Jackson L; O'Connor A; Paneque M; Curtisova V; Lunt PW; Pourova RK; MacekJr M; et al. "Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.". Genetics in medicine : official journal of the American College of Medical Genetics (2018): http://europepmc.org/abstract/med/30139992.
    10.1038/s41436-018-0279-y
  26. Jackson L; O'Connor A; Paneque M; Curtisova V; Lunt PW; Pourova RK; Macek M; et al. "The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.". Genetics in medicine : official journal of the American College of Medical Genetics (2018): http://europepmc.org/abstract/med/30050101.
    10.1038/s41436-018-0132-3
  27. Milena Paneque; Catarina Costa; Carolina Lemos; Miguel Alves-Ferreira; Jorge Sequeiros; Marina Serra Lemos. "Proposta de Uma Escala Portuguesa para a Avaliação da Qualidade do Aconselhamento Genético: Uma Nova Ferramenta para os Profissionais da Saúde". Acta Médica Portuguesa (2018): https://doi.org/10.20344/amp.9997.
    10.20344/amp.9997
  28. Pestoff R; Moldovan R; Cordier C; Serra-Juhé C; Paneque M; Ingvoldstad CM. "How practical experiences, educational routes and multidisciplinary teams influence genetic counselors' clinical practice in Europe.". Clinical genetics (2018): http://europepmc.org/abstract/med/29251775.
    10.1111/cge.13197
  29. Mendes, A; Metcalfe, A; Paneque, M; Sousa, L; Clarke, AJ; Sequeiros, J. "Communication of Information about Genetic Risks: Putting Families at the Center". FAMILY PROCESS (2018):
    10.1111/famp.12306
  30. Paneque, Milena; Costa, Catarina; Lemos, Carolina; Alves-Ferreira, Miguel; Sequeiros, Jorge; Lemos, Marina Serra. "Proposal of a Portuguese Tool for Quality Assessment of Genetic Counselling: a New Tool for Healthcare Professionals". (2018): https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/9997.
  31. Paneque, M; Moldovan, R; Cordier, C; Serra Juhe, C; Feroce, I; Pasalodos, S; Haquet, E; et al. "The perceived impact of the European registration system for genetic counsellors and nurses". EUROPEAN JOURNAL OF HUMAN GENETICS (2017):
    10.1038/ejhg.2017.84
  32. Paneque, M; Cornel, MC; Curtisova, V; Houwink, E; Jackson, L; Kent, A; Lunt, P; et al. "Implementing genetic education in primary care: the Gen-Equip programme". JOURNAL OF COMMUNITY GENETICS (2017):
    10.1007/s12687-017-0296-6
  33. Paneque, M.; Serra-Juhé, C.; Pestoff, R.; Cordier, C.; Silva, J.; Moldovan, R.; Ingvoldstad, C.. "Complementarity between medical geneticists and genetic counsellors: Its added value in genetic services in Europe". European Journal of Human Genetics 25 8 (2017): 918-923. http://www.scopus.com/inward/record.url?eid=2-s2.0-85019732495&partnerID=MN8TOARS.
    10.1038/ejhg.2017.76
  34. Paneque, M.; Moldovan, R.; Cordier, C.; Serra-Juhé, C.; Feroce, I.; Lambert, D.; Bjørnevoll, I.; Skirton, H.. "Development of a registration system for genetic counsellors and nurses in health-care services in Europe". European Journal of Human Genetics 24 3 (2016): 312-314. http://www.scopus.com/inward/record.url?eid=2-s2.0-84958117426&partnerID=MN8TOARS.
    10.1038/ejhg.2015.234
  35. McAllister, M.; Moldovan, R.; Paneque, M.; Skirton, H.. "The need to develop an evidence base for genetic counselling in Europe". European Journal of Human Genetics 24 4 (2016): 504-505. http://www.scopus.com/inward/record.url?eid=2-s2.0-84960439444&partnerID=MN8TOARS.
    10.1038/ejhg.2015.134
  36. Magalhães, S; Paneque, M; Silva, J. "Genetics on primary healthcare: A multidisciplinary perspective [A genética nos cuidados de saúde primários: Uma perspetiva multidisciplinar]". Acta Medica Portuguesa (2016):
    10.20344/amp.7947
  37. Mendes, Á.; Paneque, M.; Sousa, L.; Clarke, A.; Sequeiros, J.. "How communication of genetic information within the family is addressed in genetic counselling: A systematic review of research evidence". European Journal of Human Genetics 24 3 (2016): 315-325. http://www.scopus.com/inward/record.url?eid=2-s2.0-84958109101&partnerID=MN8TOARS.
    10.1038/ejhg.2015.174
  38. Ingvoldstad, C.; Seven, M.; Taris, N.; Cordier, C.; Paneque, M.; Skirton, H.. "Components of genetic counsellor education: A systematic review of the peer-reviewed literature". Journal of Community Genetics 7 2 (2016): 107-118. http://www.scopus.com/inward/record.url?eid=2-s2.0-84944707263&partnerID=MN8TOARS.
    10.1007/s12687-015-0255-z
  39. Paneque, Milena. "Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study". European Journal of Human Genetics (2015):
    10.1038/ejhg.2015.23
  40. Milena Paneque; Álvaro Mendes; Jorge Saraiva; Jorge Sequeiros. "Genetic Counseling in Portugal: Education, Practice and a Developing Profession". J Genet Counsel (2015): http://dx.doi.org/10.1007/s10897-015-9827-7.
    10.1007/s10897-015-9827-7
  41. Cruz Marino, T; Vazquez Mojena, Y; Velazquez Perez, L; Gonzalez Zaldivar, Y; Aguilera Rodriguez, R; Velazquez Santos, M; Estupinan Rodriguez, A; et al. "SCA2 predictive testing in Cuba: challenging concepts and protocol evolution". JOURNAL OF COMMUNITY GENETICS (2015):
    10.1007/s12687-015-0226-4
  42. Paneque, M; Mendes, A; Guimares, L; Sequeiros, J; Skirton, H. "Genetics Health Professionals' Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools". JOURNAL OF GENETIC COUNSELING (2015):
    10.1007/s10897-014-9784-6
  43. Teixeira, E.; Borlido-Santos, J.; Brissot, P.; Butzeck, B.; Courtois, F.; Evans, R.W.; Fernau, J.; et al. "The importance of the general practitioner as an information source for patients with hereditary haemochromatosis". Patient Education and Counseling 96 1 (2014): 86-92. http://www.scopus.com/inward/record.url?eid=2-s2.0-84902273236&partnerID=MN8TOARS.
    10.1016/j.pec.2014.04.017
  44. Schuler Faccini, L; Osorio, CM; Romariz, F; Paneque, M; Sequeiros, J; Jardim, LB. "Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal". GENETICS AND MOLECULAR BIOLOGY (2014):
    10.1590/s1415-47572014000200012
  45. Leandro, B.; Paneque, M.; Sequeiros, J.; Porto, G.. "Insufficient Referral for Genetic Counseling in the Management of Hereditary Haemochromatosis in Portugal: A Study of Perceptions of Health Professionals Requesting HFE Genotyping". Journal of Genetic Counseling (2014): 1-8. http://www.scopus.com/inward/record.url?eid=2-s2.0-84891553586&partnerID=MN8TOARS.
    10.1007/s10897-013-9681-4
  46. Cruz Marino, T; Miguel Laffita Mesa, JM; Gonzalez Zaldivar, Y; Velazquez Santos, M; Aguilera Rodriguez, R; Estupinan Rodriguez, A; Vazquez Mojena, Y; et al. "Large Normal and Intermediate Alleles in the Context of SCA2 Prenatal Diagnosis". JOURNAL OF GENETIC COUNSELING (2014):
    10.1007/s10897-013-9615-1
  47. Rodrigues, Fidjy; Paneque, Milena; Reis, Claudia; Venancio, Margarida; Sequeiros, Jorge; Saraiva, Jorge. "Non-syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents' Beliefs About the Cause of Their Children's Deafness". Journal of Genetic Counseling 22 4 (2013): 448-454.
    10.1007/s10897-012-9565-z
  48. Guimaraes, Lidia; Sequeiros, Jorge; Skirton, Heather; Paneque, Milena. "What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late-Onset Disorders? A Study of the Consultand's Perspective". Journal of Genetic Counseling 22 4 (2013): 437-447.
    10.1007/s10897-012-9561-3
  49. Cruz-Marino, T.; Velazquez-Perez, L.; Gonzalez-Zaldivar, Y.; Aguilera-Rodriguez, R.; Velazquez-Santos, M.; Vazquez-Mojena, Y.; Estupinan-Rodriguez, A.; et al. "The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from". Clinical Genetics 83 6 (2013): 518-524.
    10.1111/cge.12142
  50. Raúl Aguilera-Rodríguez; José Miguel Laffita-Mesa; Luis Enrique Almaguer-Mederos; Milena Paneque. "Cuban Adolescents Requesting Presymptomatic Testing for Spinocerebellar Ataxia Type 2". ISRN Genetics 2013 (2013): 1-5. http://dx.doi.org/10.5402/2013/837202.
    10.5402/2013/837202
  51. Lêdo Susana; Paneque Milena; Rocha José; Leite Ângela; Sequeiros Jorge. "Predictive testing for two neurodegenerative disorders (FAP and HD): A psychological point of view". OJGen 03 04 (2013): 270-279. http://dx.doi.org/10.4236/ojgen.2013.34030.
    10.4236/ojgen.2013.34030
  52. Cruz Marino, T; Velazquez Perez, L; Gonzalez Zaldivar, Y; Aguilera Rodriguez, R; Velazquez Santos, M; Vazquez Mojena, Y; Estupinan Rodriguez, A; et al. "Couples at risk for spinocerebellar ataxia type 2: The Cuban prenatal diagnosis experience". Journal of Community Genetics (2013):
    10.1007/s12687-013-0147-z
  53. Mendes, A; Sousa, L; Paneque, M. "From Constraints to Opportunities? Provision of Psychosocial Support in Portuguese Oncogenetic Counseling Services". JOURNAL OF GENETIC COUNSELING (2013):
    10.1007/s10897-013-9612-4
  54. Paneque, Milena; Sequeiros, Jorge; Skirton, Heather. "Quality Assessment of Genetic Counseling Process in the Context of Presymptomatic Testing for Late-Onset Disorders: A Thematic Analysis of Three Review Articles". Genetic Testing and Molecular Biomarkers 16 1 (2012): 36-45.
    10.1089/gtmb.2011.0023
  55. Sequeiros, J.; Paneque, M.; Guimarães, B.; Rantanen, E.; Javaher, P.; Nippert, I.; Schmidtke, J.; et al. "The wide variation of definitions of genetic testing in international recommendations, guidelines and reports". Journal of Community Genetics 3 2 (2012): 113-124. http://www.scopus.com/inward/record.url?eid=2-s2.0-84863106341&partnerID=MN8TOARS.
    10.1007/s12687-012-0084-2
  56. Mendes, A; Paneque, M; Sousa, L. "Are family-oriented interventions in Portuguese genetics services a remote possibility? Professionals' views on a multifamily intervention for cancer susceptibility families". Journal of Community Genetics (2012):
    10.1007/s12687-012-0079-z
  57. Cruz Marino, TC; Reynaldo Arminan, RR; Jorge Cedeno, HJ; Laffita Mesa, JML; Gonzalez Zaldivar, YG; Aguilera Rodriguez, RA; Velazquez Santos, MV; et al. "Ethical Dilemmas in Genetic Testing: Examples from the Cuban Program for Predictive Diagnosis of Hereditary Ataxias". JOURNAL OF GENETIC COUNSELING (2011):
    10.1007/s10897-010-9347-4
  58. Almaguer-Mederos, L. E.; Falcón, N. S.; Almira, Y. R.; Zaldivar, Y. G.; Almarales, D. C.; Góngora, E. M.; Herrera, M.; et al. "Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis". Clinical Genetics 78 2 (2010): 169-174.
    10.1111/j.1399-0004.2009.01358.x
  59. Paneque, M; Lemos, C; Sousa, A; Velazquez, L; Fleming, M; Sequeiros, J. "Role of the Disease in the Psychological Impact of Pre-Symptomatic Testing for SCA2 and FAP ATTRV30M: Experience with the Disease, Kinship and Gender of the Transmitting Parent". JOURNAL OF GENETIC COUNSELING (2009):
    10.1007/s10897-009-9240-1
  60. Velazquez Perez, LV; Sanchez Cruz, GS; Santos Falcon, NS; Almaguer Mederos, LEA; Escalona Batallan, KE; Rodriguez Labrada, RR; Paneque Herrera, MP; et al. "Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin". NEUROSCIENCE LETTERS (2009):
    10.1016/j.neulet.2009.03.015
  61. Almaguer Mederos, LEA; Proenza, CL; Rodriguez Almira, YR; Escalona Batallan, KE; Santos Falcon, NS; Martinez Gongora, E; Cuello Almarales, DC; Velasquez Perez, LV; Paneque Herrera, MP. "Age-dependent risks in genetic counseling for spinocerebellar ataxia type 2". CLINICAL GENETICS (2008):
    10.1111/j.1399-0004.2008.01073.x
  62. Paneque, M.; Lemos, C.; Escalona, K.; Prieto, L.; Reynaldo, R.; Velázquez, M.; Quevedo, J.; et al. "Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba". Journal of Genetic Counseling 16 4 (2007): 469-479. http://www.scopus.com/inward/record.url?eid=2-s2.0-34548163596&partnerID=MN8TOARS.
    10.1007/s10897-006-9083-y
  63. Paneque, H.M.; Prieto, A.L.; Reynaldo, R.R.; Cruz, M.T.; Santos, F.N.; Almaguer, M.L.; Velázquez, P.L.; Heredero, B.L.. "Psychological aspects of presymptomatic diagnosis of spinocerebellar ataxia type 2 in Cuba". Community Genetics 10 3 (2007): 132-139. http://www.scopus.com/inward/record.url?eid=2-s2.0-34250619737&partnerID=MN8TOARS.
    10.1159/000101754
  64. Rolim, L; Leite, A; Ledo, S; Paneque, M; Sequeiros, J; Fleming, M. "Psychological aspects of pre-symptomatic testing for Machado-Joseph disease and familial amyloid polyneuropathy type I". CLINICAL GENETICS (2006):
    10.1111/j.1399-0004.2006.00606.x
  65. Reynaldo-Armiñán, R.D.; Reynaldo-Hernández, R.; Paneque-Herrera, M.; Prieto-Ávila, L.; Pérez-Ruiz, E.. "Mental disorders in patients with spinocerebellar ataxia type 2 in Cuba | Trastornos mentales en pacientes con ataxia espinocerebelosa tipo 2". Revista de Neurologia 35 9 (2002): 818-821. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036862215&partnerID=MN8TOARS.
  66. Paneque, HM; Reynaldo, AR; Velazquez Perez, L; Santos, FN; Miranda, HE; Real, PN; Garcia, ER; Hechavarria, PR. "Type 2 spinocerebellar ataxia: An experience in psychological rehabilitation". REVISTA DE NEUROLOGIA (2001):
  67. Velazquez Perez, L; Santos, FN; Garcia, R; Paneque, HM; Hechavarria, PR. "Epidemiology of Cuban hereditary ataxia". REVISTA DE NEUROLOGIA (2001):
  68. Paneque, HM; Santos, FN; Tamayo, CV; Reynaldo, AR; Velazquez Perez, L; Almaguer, ML; Hechavarria, PR; Mourino, FT; Cruz, MT. "Type 2 spinocerebellar ataxia: Acceptance of prenatal diagnosis in descendents at risk". REVISTA DE NEUROLOGIA (2001):
  69. Velazquez Perez, L; Almaguer Mederos, L; Santos Falcon, N; Hechavarria Pupo, R; Sanchez Cruz, G; Paneque Herrera, M. "Spinocerebellar ataxia type 2 in Cuba. A study of the electrophysiological phenotype and its correlation with clinical and molecular variables". REVISTA DE NEUROLOGIA (2001):
  70. Velazquez Perez, L; de la Hoz Oliveros, J; Hechavarria Pupo, R; Herrera Dominguez, H; Perez Gonzalez, RM; Rodriguez Diaz, JC; Sanchez Cruz, G; et al. "Automatic analysis of the alternate movements of the arms in patients with type 2 spinocerebellar ataxia". REVISTA DE NEUROLOGIA (2001):
  71. Velazquez, L; Medina, E; Alvarez, A; Santos, N; Garcia, R; Oliveros, N; Paneque, M; et al. "Neurophysiological clinical study of 70 patients with type 2 spinocerebellar ataxia". REVISTA DE NEUROLOGIA (2000): http://europepmc.org/abstract/med/10730314.

Other

Other output
  1. Genetic Counselling Supervision: Luxury or Necessity? A Qualitative Study with Genetic Healthcare Professionals in Portugal. 2023. Guimarães, L.; Baião, R.; Costa, C.; Lemos, M.; Henriques, M.R.; Paneque, M.. http://www.scopus.com/inward/record.url?eid=2-s2.0-85168751771&partnerID=MN8TOARS.
    10.2139/ssrn.4544121
  2. Isn't occupational therapy necessary in the Iberian Peninsula? A qualitative study.. 2023. Gayà-Barroso, A.; González-Moreno, J.; Rodríguez, A.; Ripoll-Vera, T.; López, I.L.; Gili, M.; Cisneros-Barroso, E.; Paneque, M.. http://www.scopus.com/inward/record.url?eid=2-s2.0-85174016908&partnerID=MN8TOARS.
    10.21203/rs.3.rs-3369094
  3. Thirty-years of genetic counselling education in Europe: a growing professional area. European Journal of Human Genetics. 2023. Paneque, M.; O'Shea, R.; Narravula, A.; Siglen, E.; Ciuca, A.; Abulí, A.; Serra-Juhe, C.; et al. http://www.scopus.com/inward/record.url?eid=2-s2.0-85173987616&partnerID=MN8TOARS.
    10.21203/rs.3.rs-3250214
  4. Disclosing Genetic Risk to Family Members: A Qualitative Study on Healthcare Professionals’ Perceived Roles and Responsibilities. 2023. Mendes, Á.; Paneque, M.; Sequeiros, J.. http://www.scopus.com/inward/record.url?eid=2-s2.0-85172848984&partnerID=MN8TOARS.
    10.2139/ssrn.4577867
  5. Occupational therapy in variant transthyretin amyloidosis in the Iberian Peninsula. A qualitative study. 2023. Gayà-Barroso, A.; González-Moreno, J.; Rodríguez, A.; Ripoll-Vera, T.; López, I.L.; Gili, M.; Cisneros-Barroso, E.; Paneque, M.. http://www.scopus.com/inward/record.url?eid=2-s2.0-85179990128&partnerID=MN8TOARS.
    10.21203/rs.3.rs-3609459/v1
  6. Need for Integration of Genetic Counsellors in the Portuguese Healthcare: Their Added Value from the Medical Geneticists. 2023. Baião, R.L.; Guimarães, L.; Costa, C.; Paneque, M.. http://www.scopus.com/inward/record.url?eid=2-s2.0-85177852488&partnerID=MN8TOARS.
    10.2139/ssrn.4633276
  7. Genetic Counselling Profession in Europe. 2016. Milena Paneque; Ramona Moldovan; Christophe Cordier; Clara Serra-Juhé; Irene Feroce; Inga Bjørnevoll; Debby Lambert; Heather Skirton.
    10.1002/9780470015902.a0005632.pub3
  8. Hereditary ataxias in Cuba. Historical, epidemiological, clinical, electrophysiological and quantitative neurological aspects. 2001. Velazquez Perez, L; Garcia, R; Santos, FN; Paneque, HM; Medina, HE; Hechavarria, PR.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2021/11/03 Genetic counselling at Predictive testing: From scientific evidence to clinical practice. III Interdisciplinary Congress of Human Genetics
Human Genetics Society of Spain (Valencia, Spain)
2021/10/27 The evolution of genetic counselling in Europe. World Congress of Genetic counselling
Wellcome Genome Campus in Cambridge (United Kingdom)
2021/10/04 Interdisciplinarity at genetic counselling practice. International seminar (Brasil and Paraguay),
Instituto de Biociências, Universidade Federal do Rio Grande do Sul
2019/05/11 Experiências psicossociais em famílias portuguesas com paramiloidose: a influência da idade de início e do tempo de contacto com a doença no aconselhamento genético. no V Congresso Ibero-Americano e Luso-Brasileiro de Psicologia da Saúde e no I Congresso Promoção da Saúde e do Bem-Estar no Ensino Superior
Universidade do Algarve (Faro, Portugal)
2019/02/28 A capacitação dos doentes. A importância das associações nas novas tecnologias da saúde. Comemoração do Dia das Doenças Raras
Instituto Ricardo Jorge (Lisboa, Portugal)
2018/09/22 Genética, que futuro? Reunião Nacional da Associação Portuguesa de Ataxias Hereditárias
Associação Portuguesa de Ataxias Hereditárias (Chamusca, Portugal)
2018/06/15 Genetic counsellors’ clinical practice in Europe: a mixed method approach on their contribution. European Human Genetics Conference 2018
European Society of Human Genetics (Milão, Italy)
2018/06/01 Aconselhamento Genético na Paramiloidose: desafios e evidências. 4º Congresso Internacional e XI Encontro Nacional de Paramiloidose para Técnicos de Saúde
Associação Portuguesa de Paramiloidose (Vila do Conde, Portugal)
2018/02/27 Mapeamento das Associações de Doentes e sua relação com o CGPP, um modelo de sucesso. Comemoração do Dia das Doenças Raras
Instituto Ricardo Jorge (Lisboa, Portugal)
2017/05/25 The European Gen-Equip project to create accessible resources for genetics education in primary care: an account of the process, the challenges and the successes. European Human Genetics Conference 2017
European Society of Human Genetics (Copenhaga, Denmark)
2017/04/25 The practice of Genetic Counselling in Europe: where are we and what are the challenges? I Congreso Interdisciplinar de Genética Humana.
(Madrid, Spain)
2016/10/06 Gen-Equip: Equipping European Primary Care Health Professionals to Deal with Genetics. RCGP Conference
Royal College of General Practitioners (Harrogate, United Kingdom)
2016/03/04 The patient journey. From early diagnosis to treatment. International Symposium on Immune Neuromuscular Diseases
(Madrid, Spain)
2014/09/03 Processos Colaborativos na Sensibilização Pública para a Hemocromatose Hereditária. Reunião do Projeto “BIOSENSE – O envolvimento da Ciência com a Sociedade: Ciências da Vida, Ciências Sociais e Públicos”
Centro de Estudos Sociais da Faculdade de Economia da Universidade de Coimbra (Coimbra, Portugal)
2014/05/17 A Collaborative Process of Public Awareness for Hereditary Hemochromatosis in Portugal. Haemochromatosis and Iron Overload Conference
Austin Hospital (Melbourne, Australia)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2019/04/10 - Current Catarina Raquel Ribeiro da Costa. (SFRH/BD/145679/2019), Programa Doutoral de Investigação Clínica e em Serviços de Saúde. FMUP. Projecto: Improving genetic healthcare services: the first genetic counselling multicentric randomized control trial in Portugal. Orientadora
Supervisor
 Programa Doutoral de Investigação Clínica e em Serviços de Saúde (PhD)
Universidade do Porto Faculdade de Medicina, Portugal
2019/01/02 - Current José Diogo da Rocha Pereira, (SFRH/BD/138012/2018). Doutoramento em Ciências Biomédicas. ICBAS/UPorto. Famílias portuguesas com polineuropatia amiloidótica familiar (PAF ATTRV30M) de idade de início atípica: experiências psicossociais e desafios para o aconselhamento genético. Orientadora
Supervisor
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019/01/01 - Current Lídia Guimarães, Doutoramento em Ciências Biomédicas. ICBAS/UPorto. Projecto: Mapping counselling supervision at European level. Orientadora
Supervisor
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018/01/01 - Current Maria João da Rocha Silva, Doutoramento em Ciências da Enfermagem. ICBAS/UPorto. Projecto: Genetic Education for Nurses in Primary Health Care. Orientadora
Supervisor
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2012/09/01 - Current Emerência Raquel da Silva Mendonça Teixeira. SFRH/BD/91672/2012. Projecto: Processos Colaborativos na Sensibilização Pública para a Hemocromatose Hereditária. Co-orientadora
Co-supervisor
 Doutoramento Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2023/09/01 - 2026/07/31 Partilha de informações de risco genético aos familiares: fatores que influenciam no processo de tomada de decisão
Co-supervisor
 Doutoramento em Psicologia Clínica e da Saúde (PhD)
Universidade do Porto Faculdade de Psicologia e de Ciências da Educação, Portugal

Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2019/09/01 - 2025/12/31 A prática da supervisão do aconselhamento nos cuidados de saúde em Genética: uma abordagem metodológica mista no contexto português
Supervisor of Lídia Guimarães
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2023/09/01 - 2024/12/31 Implementation of Genetic Counselling Supervision in a Portuguese Hospital – A Pilot Project
Supervisor
 Mestrado Aconselhamento Genético (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2023/09/10 - 2024/12/30 Aconselhamento Genético para Condições Psiquiátricas: explorando as atitudes e práticas atuais dos médicos em Portugallhamento Genético para Condições Psiquiátricas: explorando as atitudes e práticas atuais dos médicos em Portugal
Supervisor
 Mestrado Aconselhamento Genético (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2023/09/30 - 2024/07/31 Comunicação familiar sobre informações de risco genético: Tomada de decisão em famílias com doenças neurológicas de início tardio
Co-supervisor
 Doutoramento em Psicologia (PhD)
Universidade de Aveiro, Portugal

Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2023/09/01 - 2024/07/31 Experiências de estigmatização associadas a viver com uma doença hereditária: impacto psicológico e social
Co-supervisor
 Mestrado em Psicologia Clínica Sistémica e da Saúde (Master)
Universidade de Coimbra, Portugal

Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2019/09/01 - 2024/07/31 Improving Genetic Services in Portugal
Supervisor
 Programa de doutoramento em investigação clínica e de serviços de saúde (PhD)
Universidade do Porto Faculdade de Medicina, Portugal

Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2018/09/01 - 2024/06/30 Portuguese families with an atypical age-of-onset of FAP TTR-Met30: their psychosocial experience and genetic counselling challenges
Supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2016/09/01 - 2017/06/26 Catarina Raquel Ribeiro da Costa, Mestrado Integrado em Psicologia, área de Psicologia Clínica e da Saúde, Junho 2017. Dissertação “Instrumento português para avaliação da qualidade da prática do aconselhamento genético: a contribuição dos profissionais dos serviços de genética nacionais”. Faculdade de Psicologia e de Ciências da Educação da Universidade do Porto, FPCEUP, co-orientadora.
Co-supervisor
 Mestrado Integrado Psicologia (Master)
Universidade do Porto Faculdade de Psicologia e de Ciências da Educação, Portugal
2009/09/01 - 2011/12/09 Lídia Guimarâes, Mestrado Profissionalizante em Aconselhamento Genético, ICBAS, 9 dezembro 2011
Supervisor
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2009/09/01 - 2011/10/27 Vânia Machado, Mestrado Profissionalizante em Aconselhamento Genético, ICBAS, 27 outubro 2011
Supervisor
2009/09/01 - 2011/10/27 Fidjy Rodrigues, Mestrado Profissionalizante em Aconselhamento Genético, ICBAS, 27 outubro 2011
Supervisor
2009/01/09 - 2011/10/27 Bruna Leandro, Mestrado Profissionalizante em Aconselhamento Genético, ICBAS, 27 outubro 2011
Supervisor

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2023/09/20 - Current Exhibition A rare look, which aims to simultaneously bring the perspective of patients, young secondary school students and researchers on a group of rare diseases. To promote greater health literacy regarding rare diseases and the underlying molecular mechanisms as well as the psychosocial realities of affected people and their families, this exhibition will integrate photographs taken by patients and/or their caregivers; graphic illustrations of protein structures involved in rare diseases; graphic representations created by secondary school stud (2023/09/20 - 2023/10/30)
Exhibition (President of the Organising Committee)
2023/09/15 - Current Patient Association Training Program 2023 (2023/09/15)
Conference (President of the Organising Committee)
2020/02/29 - Current Rare Disease Days - outreaching activities (2020/02/29)
Other (President of the Organising Committee)
 Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2019/02/27 - Current Rare Disease Days - outreaching activities (2019/02/27)
Other (Member of the Scientific Committee)
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2018/03/02 - Current Expression of Hope: Through art, a universal language that communicates what sometimes words can not, the challenge was launched and accepted by those who, affected by these rare genetic diseases, have created an original work of art that reflects how one lives with a DLS. With the support of Patient Associations around the world, this initiative, created in 2006, was exposed at i3S in 2018. (2018/03/02)
Exhibition (Co-organisor)
 Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2018/02/28 - Current Rare Disease Days - outreaching activities (2018 - 2018/02/28)
Other (Member of the Organising Committee)
 Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2017/03/01 - Current Rare Disease Day - outreaching activities (2017/03/01)
Other (Member of the Organising Committee)
 Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2016/02/28 - Current Rare Disease Days - outreaching activities (2016/02/28)
Other (President of the Organising Committee)
 Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2012/01/01 - Current Science Ambassador Programme that consists in regular talks at schools promoting genetics literacy. Education and Public Outreach
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2020/01/24 - Rocío Martínez Regueiro, Programa de Doutoramento Neurociencia e Psicoloxía Clínica, "Caracterización del perfil neuropsicológico de la SCA36 y adaptación al español de una herramienta de cribado del síndrome cognitivo-afectivo cerebeloso", Universidad de Santiago de Compostela, 24 de janeiro 2020.
(Thesis) Arguer
 Rocío Martínez Regueiro (PhD)
Universidade de Santiago de Compostela, Spain
2019/05/08 - Irene Esteban Marcos, Programa de Doctorado en Genética, “Paneles de genes en cáncer hereditario: Identificación de variantes en nuevos genes e impacto psicológico", Universidad Autónoma de Barcelona, 8 de maio 2019.
(Thesis) Arguer
 Irene Esteban Marcos (PhD)
2015/12/03 - Susana Maria Lêdo da Silva Pinto, Doutoramento em Ciências Biomédicas, "O impacto psicológico a curto, médio e longo prazo do teste preditivo de doenças neurológicas de início tardio", ICBAS, Univ. Porto, 3 dezembro 2015
(Thesis) Arguer
 Susana Maria Lêdo da Silva Pinto (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2015/07/08 Andreia Jesus dos Santos, Mestrado em Gerontologia, “Papel dos mais velhos na gestão da saúde em famílias com paramiloidose: perspectiva dos profissionais de saúde”, Universidade de Aveiro, 8 julho 2015 (Arguente)
(Thesis) Main arguer
 Andreia Jesus dos Santos (Master)
2015/07/08 Carla Sofia Roma de Oliveira, Mestrado em Gerontologia, “Os mais velhos na promoção da saúde em famílias com paramiloidose”, Universidade de Aveiro, 8 julho 2015 (Arguente
(Thesis) Main arguer
 Carla Sofia Roma de Oliveira (Master)
2013/12/04 Maria João da Rocha Silva, Mestrado em Ciências da Enfermagem, “Adaptação e Resiliência em famílias de indivíduos com Síndrome de Down: contributo para um estudo transcultural”, Escola Superior de Enfermagem, 4 dezembro 2013 (Arguente)
(Thesis) Main arguer
 Maria João da Rocha Silva (Master)
Escola Superior de Enfermagem do Porto, Portugal
2011/04/13 Flávia Oliveira Afonso, Mestrado em Psicologia, "Estudo longitudinal da interrupção médica da gravidez: consequências psicológicas a longo prazo”, CESPU, 13 abril 2011 (Arguente)
(Thesis) Main arguer
 Flávia Oliveira Afonso (Master)
Cooperativa de Ensino Superior Politécnico e Universitário, Portugal
2010/12/14 - Paula Isabel Santos, Doutoramento em Ciências Biomédicas, “Polineuropatia Amiloidótica Familiar, Imortalidade Simbólica e Ansiedade Perante a Morte, ICBAS, Univ. Porto, 14 dezembro 2010
(Thesis) Main arguer
 Paula Isabel Santos (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2010/02/26 Sara Wellencamp de Sequeiros, Mestrado em Psicossomática, “Podem variáveis psicológicas ser marcadores úteis da polineuropatia amiloidótica familiar?”, ISPA, 26 fevereiro 2010 (Arguente).
(Thesis) Main arguer
 Sara Wellencamp de Sequeiros (Master)
Instituto Superior de Psicologia Aplicada Centro de Investigação em Educação, Portugal

Association member

Society Organization name Role
2016/05/16 - Current Transnational Alliance of Genetic Counsellors TAGC Member of the Board of Directors,
2014/06/12 - Current European Board of Medical Genetics - EBMG Chair of Genetic Counsellors and Nurses Division
2012/11/03 - Current Associação Portuguesa dos Profissionais de Aconselhamento Genético (APPAcGen) Presidente

Committee member

Activity description
Role 		Institution / Organization
2021/09/10 - 2022/06/11 Past President
Other
 European Board of Medical Genetics, Austria
2020/06/12 - 2021/09/12 President
President / Vice-president
 European Board of Medical Genetics, Austria
2017/06/12 - 2019/06/03 Membro do Comité Científico da Conferência Europeia de Aspectos Psicossociais da Genética
Member
 European Society of Human Genetics, Austria

Conference scientific committee

Conference name Conference host
2013/06/06 - Current European Meeting on Psychosocial Aspects of Genetics

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2020/09/02 - 2022/06/26 Principles and Techniques of Genetic Counselling, Psychosocial genetics and Seminar at Genetic Counselling Master Program Master Degree in Genetic Counselling (Mestrado) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2012/02/03 - 2014/06/25 Medical Genetics Licenciatura em Medicina (Licenciatura) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2009/09/02 - 2011/06/26 Principles of Genetic Counselling I & II; Psychosocial Genetics I & II; Research Seminar. Mestrado em Aconselhamento Genético - MAG (Mestrado) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Distinctions

Award

2017 European Health Award (https://www.ehfg.org/archive/2017/eha/)
2014 Fellowship Award
European Society of Human Genetics, Austria