Mapping, Infrastructure, and Data Analysis for the Brazilian Network of Rare Diseases: Protocol for the RARASnet Observational Cohort Study

Journals

1. Horgan D, Hamdi Y, Lal J, Nyawira T, Meyer S, Kondji D, Francisco N, De Guzman R, Paul A, Nallamalla K, Park W, Triapthi V, Tripathi R, Johns A, Singh M, Phipps M, Dube F, Abu Rasheed H, Kozaric M, Pinto J, Stefani S, Aponte Rueda M, Alarcon R, Barrera-Saldana H. Empowering quality data – the Gordian knot of bringing real innovation into healthcare system. Diagnosis 2023;10(2):140 View
2. Bernardi F, Yamada D, de Oliveira B, Lima V, Félix T, Alves D. The minimum dataset for rare diseases in Brazil: a systematic review protocol. Procedia Computer Science 2022;196:439 View
3. Félix T, de Oliveira B, Artifon M, Carvalho I, Bernardi F, Schwartz I, Saute J, Ferraz V, Acosta A, Sorte N, Alves D, Amorim T, Adjuto G, Almeida R, Brandão F, Bueno L, de Andrade M, Cagliari C, Cardoso M, Carvalho E, Costa M, El-Husny A, Faccini L, Fock R, Florêncio R, Galera M, Giugliani R, de Rosso Giuliani L, Grumach A, Horovitz D, Llerena-Junior J, Kim C, Maia R, Martins A, de Medeiros P, de Castro Musolino N, Nita M, da Silva Nunesmaia H, de Oliveira J, Paiva W, Pimentel H, de Camargo Pinto L, Prazeres V, de Freitas Rodrigues Ribeiro B, Ribeiro E, Rodrigues M, Salles M, Sanseverino M, dos Santos E, Santos M, Sarti F, da Silva L, da Silva R, Steiner C, Tavares A, Teixeira T, Vergara A, Zen P, Zuchetti M. Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN). Orphanet Journal of Rare Diseases 2022;17(1) View
4. Neiva M, Vinci A, Yamada D, Bernadi F, Soares G, Lima V, Alves D, Félix T. Informed Consent Form Automated Validation, The Brazilian Rare Disease Network Case Proposal. Procedia Computer Science 2023;219:1538 View
5. Bernardi F, Alves D, Neiva M, Yamada D, Lima V, Vinci A, Thomazini G, Rijo R, Felix T. A proposal for a set of attributes relevant for Web portal data quality: The Brazilian Rare Disease Network case. Procedia Computer Science 2023;219:1316 View
6. Bernardi F, Mello de Oliveira B, Bettiol Yamada D, Artifon M, Schmidt A, Machado Scheibe V, Alves D, Félix T. The Minimum Data Set for Rare Diseases: Systematic Review. Journal of Medical Internet Research 2023;25:e44641 View
7. de Oliveira B, Neiva M, Carvalho I, Schwartz I, Alves D, Felix T. Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network. Public Health Genomics 2023:145 View
8. Gerk A, Kundu S, Meara J, Stegmann J. Digital solutions for rare diseases in global health. The Lancet Global Health 2024;12(7):e1091 View
9. Neiva M, de Oliveira B, Schmidt A, Scheibe V, Milke J, dos Santos M, Yamada D, Colombo Filho M, Soares G, de Araújo Ribeiro Y, Bruno O, Félix T, Alves D, RARAS Network group . ICD-10 - ORPHA: An Interactive Complex Network Model for Brazilian Rare Diseases. Procedia Computer Science 2024;239:634 View
10. de Oliveira B, Bernardi F, Baiochi J, Neiva M, Artifon M, Vergara A, Martins A, Grumach A, Acosta A, Husny A, de Freitas Rodrigues Ribeiro B, Ramos C, Steiner C, Kim C, Christofolini D, Yamada D, Carvalho E, Ribeiro E, de Arruda Bastos F, Serpa F, Brandão F, Adjuto G, Carvalho I, Saute J, Junior J, Bueno L, da Silva L, Santos M, Costa M, Giusti M, Galera M, Filho M, de Andrade M, De Oliveira Cardoso M, de Menezes Ferreira M, Zeny M, Caldato M, Sorte N, Musolino N, de Medeiros P, Zen P, Da Silva R, Maia R, Fock R, Almeida R, Valle S, Amorim T, Teixeira T, Prazeres V, de Faria Ferraz V, Lima V, Paiva W, Schwartz I, Alves D, Félix T, de Sousa Melo A, da Silva Rocha A, Aragão A, Braccini A, Schmidt A, dos Santos A, de Souza e Silva A, Lima A, Scasso A, Oliveira A, Perico A, da Silva Aniceto B, Pinheiro B, Badaró B, Braga B, de Oliveira Chapiesk B, Pinheiro B, Pereira B, de Souza Ponce B, Martins B, de Eça B, de Souza B, Paschoalino B, Valadares B, de Oliveira C, Sales C, Alexandre C, Girelli C, Balluz C, de Paiva Farias C, Vilemar C, Arrigoni C, de Almeida Passos C, Harumi C, Barbieri C, Prado D, Monteiro D, da Silva Cruz D, Batista E, Naves E, da Silva E, Teixeira E, Amaral F, Moreira F, de Souza F, Boggian F, Filho F, Lôla G, Pereira G, Diehl G, Cordeiro G, Duran G, Fonseca G, Mello H, Serpa H, Veiga H, Gabriel I, Formenti I, de Brito Ramos I, Paiva I, Ferreira J, Rangel J, Florêncio J, Filho J, Dantas J, Milke J, Rios J, Pavao J, Angelo K, de Oliveira K, de Carvalho K, Zulszeski K, de Lima L, Nascimento L, dos Santos Pereira L, Makariewicz L, Bittencourt L, Medeiros L, Vasconcelos L, Jannuzzi L, da Silva L, Aguilar L, Chibicheski L, de Oliveira Simões L, Dias M, dos Santos M, Neves M, Henriques M, Leal M, Tacla M, Souza M, da Paz M, Silva M, Soares N, da Silva Gilbert N, Silva O, Sousa P, Rocha P, Jacob R, da Silva R, Carvalho R, Santos R, Silva R, Holanda R, Mourão R, de Oliveira R, Braga R, Macely S, Morais S, Mucumbi S, Nhime S, de Sousa S, Rego T, Gurjão T, dos Santos Gomes T, Gazineu T, Machado V, Muniz V, Rocha V, Leão V, Oliveira W, Miguel W, de Araújo Ribeiro Y, dos Santos Y. Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network. Orphanet Journal of Rare Diseases 2024;19(1) View
11. Cassão V, Bernardi F, de Oliveira W, Yamada D, Lima V, Baiochi J, Alves D. Rare Disease Monitoring Portal in Brazil: An Integrated Approach to Geographic and Clinical Data. Procedia Computer Science 2025;256:1310 View
12. Yamada D, Bernardi F, Lima V, Souza J, Baiochi J, Cassão V, de Faria Ferraz V, Alves D. The Brazilian Knowledge Management Model: A Proposal to Support Rare Diseases Education and Awareness Processes. Procedia Computer Science 2025;256:1333 View
13. Neiva M, Yamada D, Vinci A, Alves D, Felix T, Doederlein Schwartz I. Experiences and Perceptions of Catalysts and Barriers to Data Quality in the National Network of Rare Diseases. Procedia Computer Science 2025;256:1375 View
14. Baiochi J, Bernardi F, Yamada D, Felix T, Ferraz V, Lima V, Alves D. 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 2025;256:1341 View
15. Alves D, Andrade Bernardi F, Bettiol Yamada D, Costa Lima V, Komoto T, Cassão V, Seixas M, Dal Fabbro A, Félix T, Cavalli R, Ferraz V. Promoting Comprehensive Care for People with Rare Diseases in a Tertiary Care Setting in Brazil: Protocol for a Mixed Methods Implementation Study (Preprint). JMIR Research Protocols 2024 View
16. Andrade Bernardi F, Costa Lima V, Alonso M, Mello de Oliveira B, Lorea C, Moraes J, Cassão V, Soares G, Baiochi J, Vinci A, de Souza M, Araújo Y, Bettiol Yamada D, Lourenço Annelli G, de Faria Ferraz V, Rijo R, Maria Félix T, Alves D. Paving the way for Brazil’s first national rare diseases registry: the RARAS data governance model. BMC Digital Health 2025;3(1) View
17. Bernardi F, Komoto T, Vinci A, de Souza Seixas M, Lorea C, de Oliveira B, Yamada D, Felix T, Alves D. Standardizing rare disease data in Brazil: a Delphi-based approach for the First National Registry. Journal of Rare Diseases 2025;4(1) View

Books/Policy Documents

1. Yamada D, Bernardi F, Filho M, Neiva M, Lima V, Vinci A, de Oliveira B, Félix T, Alves D. Computational Science – ICCS 2022. View
2. Cassão V, Bernardi F, Lima V, Soares G, Miyoshi N, de Andrade Mioto A, Kritski A, Alves D. Computational Science – ICCS 2023. View
3. Andrade Martins P, Colombo Filho M, de Andrade Mioto A, Bernardi F, Lima V, Félix T, Alves D. Computational Science – ICCS 2023. View

Conference Proceedings

1. Lima V, Bernardi F, Rijo R, Freitas A, Félix T, Schwartz I, Rodrigues A, Sanjuluca T, Zavale O, Madeira L, Souza J, Alves D. 2025 IEEE 38th International Symposium on Computer-Based Medical Systems (CBMS). Rare Diseases in the Community of Portuguese-Speaking Countries: Mapping, Advances in Digital Health, and International Cooperation View