Personal identification

Full name

Isabel Maria Serra Amaral Nunes

Citation names

• Serra Nunes, Isabel

Author identifiers

Ciência ID

6517-7A64-DFAA

ORCID iD

0009-0006-7064-1964

Languages

Language	Speaking	Reading	Writing	Listening	Peer-review
Portuguese (Mother tongue)
English	Upper intermediate (B2)	Upper intermediate (B2)	Upper intermediate (B2)	Upper intermediate (B2)	Upper intermediate (B2)

	Degree	Classification
2023 - 2027 Ongoing	Especialista em Genética Médica (Título de especialista) Centro Hospitalar Universitário de Santo António, Portugal
2024/05/05 - 2024/05/10 Concluded	36th Course on Clinical Genomics and NGS (Postgraduate Certificate) European Society of Human Genetics, Austria
2023 Concluded	Genomic Technologies in Clinical Diagnostics: Molecular Techniques (Postgraduate Certificate) St George's Hospital Medical School, United Kingdom
2023 Concluded	Genomic Technologies in Clinical Diagnostics: Next Generation Sequencing (Postgraduate Certificate) St George's Hospital Medical School, United Kingdom
2023 Concluded	6th Course – Basics in Human Genetic Diagnostics – A course for CLGs in education (Postgraduate Certificate) European Society of Human Genetics, Austria	Aprovado
2019 Concluded	Técnicas de Depuración Extrarrenal Continua en el Niño Crítico (Postgraduate Certificate) Sociedad Española de Cuidados Intensivos Pediátricos, Spain
2018 Concluded	Curso de Ventilación Mecánica Pediátrica y Neonatal em el Paciente Agudo (Postgraduate Certificate) Sociedad Española de Cuidados Intensivos Pediátricos, Spain
2017/09 Concluded	Post-Graduation in Paediatric Nutrition: from conception to adolescence (Pós-Graduação) Universidade Católica Portuguesa Centro Regional do Porto, Portugal	17
2011 - 2016 Concluded	Especialista em Pediatria (Título de especialista) Centro Hospitalar de Entre o Douro e Vouga EPE, Portugal	19.2
2016 Concluded	Curso Online de Transporte Pediátrico y Neonatal (Postgraduate Certificate) Sociedad Española de Cuidados Intensivos Pediátricos, Spain
2009/07 Concluded	Mestrado Integrado Medicina (Mestrado integrado) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal	14

Positions / Appointments

	Category Host institution	Employer
2023/01 - Current	Interna Complementar de Genética Médica	Unidade Local de Saúde de Santo António EPE, Portugal
2022 - 2022	Assistente Hospitalar de Pediatria - Serviço de Pediatria	Centro Hospitalar de Trás-os-montes e Alto Douro EPE, Portugal
2017 - 2021	Assistente Hospitalar de Pediatria - Serviço de Medicina Intensiva Pediátrica	Centro Hospitalar Universitário de São João, Portugal
2011 - 2016	Interna Complementar de Pediatria	Centro Hospitalar de Entre o Douro e Vouga EPE, Portugal
2010/01 - 2011/02	Interna Formação Geral	Centro Hospitalar de Entre o Douro e Vouga EPE, Portugal

Others

	Category Host institution	Employer
2023 - Current	Docência de Aulas a Convite	Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2012/09 - 2012/10	Estágio Opcional	Clínica Bairo Pité , Timor-Leste

Publications

Conference poster	Serra Nunes, Isabel; Carla Caseiro; Isaura Ribeiro; Sónia Figueiroa; Cristina Garrido; Dulce Quelhas. "Krabbe Dissease: 24-year Experience of a National Metabolic Disease Center". Paper presented in 20th International Symposium of the Portuguese Society for Metabolic Disorders, 2024. Capela AM; Carmona C; Soares AR; Soares CA; Serra Nunes, Isabel; Da Silva J; Abreu M; et al. "The role of genetic counselling in presymptomatic genetic testing: lessons from familial amyloidosis polyneuropathy". Paper presented in 27ª Reunião da SPGH, 2023. Da Silva J; Oliveira C; Soares AR; Serra Nunes, Isabel; Neto N; Fortuna A; Tkachenko N; Porto B. "Learning is a lifelong experience: lessons from 30 years of the portuguese Fanconi anemia cohort". Paper presented in 27ª Reunião da SPGH, 2023. Serra Nunes, Isabel; Da Silva J; Abreu M; Prior AC; Fortuna A; Tkachenko N; Soares AR. "Disruption of POGZ and syndromic intellectual disability: report of 4 Portuguese cases". Paper presented in 27ª Reunião da SPGH, 2023. Serra Nunes, Isabel; Soares CA; Da Silva J; Vale-Fernandes E; Barreiro M; Capela AM; Abreu M; et al. "Genetic counselling and carrier screening: 4-year experience of the first public gamete bank in Portugal". Paper presented in 27ª Reunião da SPGH, 2023. Almeida F; Ferreira L; Serra Nunes, Isabel; Tkachenko N; Soares AR. "Balanced translocations poor outcomes in pre and post-natal set: A case report". Paper presented in Reunião Anual da Associação Portuguesa de Diagnóstico Pré-Natal, 2023. Serra Nunes, Isabel; Da Silva J; Machado L; Tkachenko N; Soares AR. "Hipogonadismo hipogonadotrófico familiar - descrição de dois irmãos com síndrome cúbito-mamária". Paper presented in Reunião Anual SEDP-SPP 2023, 2023.
Journal article	Nunes, Isabel Serra; Da Silva, Jorge Diogo; Abreu, Maria; Prior, Ana Catarina; Fortuna, Ana; Tkachenko, Natalia; Soares, Ana Rita. "Disruption of POGZ and Syndromic Intellectual Disability: Report of 4 Portuguese Cases". Acta Scientific Paediatrics (2024): 05-09. http://dx.doi.org/10.31080/aspe.2024.07.0661. 10.31080/aspe.2024.07.0661 Da Silva, Jorge Diogo; Pereira, Ângela; Soares, Ana Rita; Guimas, Arlindo; Rocha, Sara; Cardoso, Márcio; Garrido, Cristina; et al. "Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V". Pediatric Research (2023): http://dx.doi.org/10.1038/s41390-023-02943-1. 10.1038/s41390-023-02943-1 Azevedo, Ana; Rodrigues, Joana; Nunes, Isabel; Romariz, Jorge; Pedrosa, Claudia; Praça, Fátima; Costa, Herculano. "Programa de Formação e Prevenção da Anafilaxia Alimentar nas Escolas". (2017): https://doi.org/10.25754/pjp.2017.9855. https://doi.org/10.25754/pjp.2017.9855 Nunes, Isabel Serra; Abreu, Marlene; Corujeira, Susana; Oliveira, Juliana; Tavares, Marta; Rocha, Cristina; Lopes, Joanne; et al. "Tracheitis – A Rare Extra-Intestinal Manifestation of Ulcerative Colitis in Children". GE Portuguese Journal of Gastroenterology 23 5 (2016): 259-263. http://dx.doi.org/10.1016/j.jpge.2016.03.002. 10.1016/j.jpge.2016.03.002 Abreu, Marlene; Nunes, Isabel; Corujeira, Susana; Tavares, Marta; Trindade, Eunice; Dias, Jorge Amil. "Caustic Esophageal Stenosis: A Case Report of Endoscopic Dilation With a Dynamic Stent". GE Portuguese Journal of Gastroenterology 23 4 (2016): 218-223. http://dx.doi.org/10.1016/j.jpge.2015.12.006. 10.1016/j.jpge.2015.12.006 Nunes, Isabel; Gomes, Lúcia; Silva, Hélder; Guimarães, Paulo. "Rinorreia Crónica: Rinite ou Algo Mais?". (2016): https://doi.org/10.25754/pjp.2016.6500. https://doi.org/10.25754/pjp.2016.6500 Serra Nunes, Isabel; Monteiro, Joana; Amorim, Joana; Jorge, Rita; Ferreira, Sofia; Costa, Miguel; Gomes, Lúcia. "Intoxicações voluntárias em adolescentes - casuística de recorrência ao serviço de urgência de um hospital distrital". (2014): https://doi.org/10.25754/pjp.2014.3343. https://doi.org/10.25754/pjp.2014.3343
Thesis / Dissertation	Isabel Maria Serra Amaral Nunes. "A constelação do idoso". Master, 2009. https://hdl.handle.net/10216/157451.

Award

2024	Menção Honrosa
2015	Melhor Caso Endoscópico
2011	Melhor Comunicação Oral
2011	Melhor Poster