Nesta seção estão disponíveis as publicações científicas provenientes dos projetos relacionados a este portal e às suas linhas de pesquisa. Os estudos apresentados refletem a produção científica que fundamenta o desenvolvimento dos recursos, conteúdos e estratégias educacionais disponibilizados.
1. Alves D, Andrade Bernardi F, Bettiol Yamada D, Costa Lima V, Komoto TT, Cassão V, Seixas MdS, Fontanelli Straube de Souza L, Dal Fabbro AL, Félix TM, Cavalli RdC, Ferraz VEdF. Promoting Comprehensive Care for People with Rare Diseases: Strengthening the Care, Registration and Awareness Network at Clinics Hospital of Ribeirão Preto. JMIR Res Protoc 2025;14:e68949. https://doi.org/10.2196/68949.
2. Filipe Bernardi, Vinícius Lima, Mateus Alonso, Bibiana de Oliveira, Claudia Fernandes Lorea, José Carlos Moraes, Victor Cassão, João Baiochi, André Vinci, Diego Yamada, Giovane Soares, Yasmin Araújo, Mariane de Souza, Guilherme Annelli, Victor Ferraz, Rui Rijo, Têmis Félix, Domingos Alves & RARAS Consortium. Paving the Way for the Brazil’s First National Rare Diseases Registry: The RARAS Data Governance Model. BMC Digit Health 3, 61 (2025). https://doi.org/10.1186/s44247-025-00200-5.
3. Filipe Andrade Bernardi, Tatiana Takahasi Komoto, André Luiz Teixeira Vinci, Michele de Souza Seixas, Claudia Fernandes Lorea, Bibiana Mello de Oliveira, Diego Bettiol Yamada, Têmis Maria Felix, Domingos Alves, Raras Network Group, 2024. Standardizing Rare Disease Data in Brazil: A Delphi-Based Approach to the First National Registry. J Rare Dis 4, 62 (2025). https://doi.org/10.1007/s44162-025-00123-9.
4. Lima, V.; Mozini, M.; Alves, D. Second-Opinion Systems for Rare Diseases: A Scoping Review of Digital Workflows and Networks. Informatics 2026, 13, 6. https://doi.org/10.3390/informatics13010006.
5. Lima V, Bernardi F, Ferraz V, Alves D. Building a digital platform for collaborative second opinions in rare disease: Integrating AI and healthcare networks for improved care. GMS Med Inform Biom Epidemiol. 2025;21:Doc19.https://doi.org/10.3205/mibe000291.
6. Diego Bettiol Yamada, Filipe Andrade Bernardi, Vinícius Costa Lima, Julio Souza, João Francisco Baiochi, Victor Cassão, Victor Evangelista de Faria Ferraz, Domingos Alves. The Brazilian Knowledge Management Model: A Proposal to Support Rare Diseases Education and Awareness Processes. Procedia Computer Science 256, 1333-1340. 2025, https://doi.org/10.1016/j.procs.2025.02.246.
7. João Baiochi, Filipe Bernardi, Diego Yamada, Têmis Félix, Victor Ferraz, Vinícius Lima, Domingos Alves. Development of an Infrastructure and Computational Pipeline for Analyzing Rare Disease Research Data: A Case Study in the State of São Paulo, Brazil. Procedia Computer Science. Volume 256, 2025, Pages 1341-1349, https://doi.org/10.1016/j.procs.2025.02.247.
8. Cassão, V., Bernardi, F. A., Oliveira, W. D., Yamada, D. B., Lima, V. C., Baiochi, J., & Alves, D.. Rare Disease Monitoring Portal in Brazil: An Integrated Approach to Geographic and Clinical Data. Procedia Computer Science. Volume 256, 2025, Pages 1310-1317, https://doi.org/10.1016/j.procs.2025.02.243.
9. Vinícius Lima, Filipe Bernardi, Diego Yamada, Victor Cassão, Francisco Barbosa-Junior, Têmis Félix, Victor Ferraz, Amaury Dal Fabbro, Domingos Alves. Enhancing Rare Disease Management and Care: Proposal of an Evidence-Based Digital Platform for Second Opinions. Procedia Computer Science. Volume 256, 2025, Pages 1277-1284, https://doi.org/10.1016/j.procs.2025.02.239.
10. Filipe Bernardi, Bibiana de Oliveira, José Carlos Moraes, João Baiochi, Vinicius Lima, Victor Ferraz, Domingos Alves, Têmis Félix, Ida Schwartz. Developing a Genomic Minimum Data Set for Rare Diseases in Brazil: A Delphi Protocol Approach. Procedia Computer Science. Volume 256, 2025, Pages 1294-1301, https://doi.org/10.1016/j.procs.2025.02.241.
11. Souza, J.; Fontanelli, L.; Cassão, V.; Yamada, D.; Bernardi, FA.; Marreiros, G.; Freitas, A.; Alves, D. (In press). Artificial Intelligence in Rare Disease Phenotyping: A Systematic Review Protocol. In Procedia Computer Science.
12. Souza, J.; Fontanelli, L.; Cassão, V.; Yamada, D.; Bernardi, FA.; Marreiros, G.; Freitas, A.; Alves, D. (In press). Translation of Human Phenotype Ontology terms to the Portuguese language: a machine supported approach. In Quality of Information and Communications Technology – 18Th International Conference on the Quality of Information and Communications Technology, Quatic 2025, Lisbon, Portugal, September 3-5, 2025, Proceedings.
13. Filipe Andrade Bernardi, Bibiana Mello de Oliveira, Natan Monsores et al. Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification, 10 February 2026, PREPRINT (Version 1) available at Research Square https://doi.org/10.21203/rs.3.rs-8758831/v1.
14. Yamada, D. B.; Komoto, T. T.; Lima, V. C.; Souza, J.; Donato, D. C. B.; Seixas, M.; Cassão, V.; Dal Fabbro, A. L.; Ferraz, V. E. F.; Alves, D. A Knowledge Representation Framework for Rare Diseases Governance within the Brazilian Healthcare System. In Procedia Computer Science. https://doi.org/10.1016/j.procs.2026.03.119.
15. Yamada D, Komoto T, Lima V, Souza J, Seixas M, Cassão V, Ferraz V, de Oliveira B, Félix T, Alves D. Main Recommendations for Developing Education and Awareness Strategies for Rare Diseases: Scoping Review. JMIR Med Educ 2026;12:e79027. https://doi.org/10.2196/79027.
