The Minimum Data Set for Rare Diseases: Systematic Review

Journals

1. Doyle L, Ahmed S, Davis J, Elford S, Elhassan Y, James L, Lawrence N, Llahana S, Okoro G, Rees D, Tomlinson J, O'Reilly M, Krone N. Service evaluation suggests variation in clinical care provision in adults with congenital adrenal hyperplasia in the UK and Ireland. Clinical Endocrinology 2024;101(4):386 View
2. Sigfstead S, Jiang R, Avram R, Davies B, Krahn A, Cheung C. Applying Artificial Intelligence for Phenotyping of Inherited Arrhythmia Syndromes. Canadian Journal of Cardiology 2024;40(10):1841 View
3. Medina Escobar A, Pringsheim T, Gautreau S, Rivera‐Duarte J, Amorelli G, Cornejo‐Olivas M, Rossi M. Epidemiology of Huntington's Disease in Latin America: A Systematic Review and Meta‐Analysis. Movement Disorders 2024;39(11):1907 View
4. Uijterwijk B, Lemmers D, Moekotte A, Zaniboni A, Ghidini M, Wilmink H, Milella M, Scarpa A, Luchini C, Baboeram N, Klei D, Manzoni A, Bannone E, Oneda E, Besselink M, Abu Hilal M, Berger A, Alseidi A, Pisanu A, Ramirez-Del Val A, Serrablo A, Anselmo A, Ferrero A, Giani A, Mazzotta A, Zerbi A, Moekotte A, Zureikat A, Cacciaguerra A, de Wilde A, Koerkamp B, Ielpo B, Björnsson B, Al B, Sarireh , Goh B, Gayet B, Ball C, Vollmer C, Tang C, van Dam C, Ricci C, Droogh D, Korkolis D, Sparrelid E, Ausania F, di Benedetto F, Lancelotti F, Berrevoet F, Kazemier G, Nappo G, Poya G, Marchegiani G, Fusai G, Malleo G, Seppanen H, Han H, Frigerio I, Halle J, Christein J, Kleeff J, de Vos Geelen J, Johansen K, Roberts K, Hayek K, Khalil K, Webber L, Siragusa L, Bolm L, Maglione M, Ramaekers M, Giuffrida M, Gruppo M, Serradilla M, Ramaeckers M, Fontana M, Guerra M, Dillhoff M, Mortimer M, House M, Mazzola M, Suarez Muñoz M, Vladimirov M, Luyer M, Bonds M, Kerem M, Napoli N, Mowbray N, Jamieson N, Soubrane O, Pessaux P, Mauro P, Valle R, Zheng R, Casadei R, Bhogal R, Salvia R, Salem R, Cabús S, Koek S, Delis S, Bouwense S, Dreyer S, Behrman S, White S, Robinson S, Mieog S, S.Kent T, Vanagas T, Boggi U, Wellner U, Mavroeidis V, Fisher W, Koh Y, Soonawalla Z. Tackling challenges in rare diseases: The ISGACA approach on non-pancreatic cancers in the periampullary region. European Journal of Surgical Oncology 2024;50(11):108601 View
5. Ahmadi N, Zoch M, Guengoeze O, Facchinello C, Mondorf A, Stratmann K, Musleh K, Erasmus H, Tchertov J, Gebler R, Schaaf J, Frischen L, Nasirian A, Dai J, Henke E, Tremblay D, Srisuwananukorn A, Bornhäuser M, Röllig C, Eckardt J, Middeke J, Wolfien M, Sedlmayr M. How to customize common data models for rare diseases: an OMOP-based implementation and lessons learned. Orphanet Journal of Rare Diseases 2024;19(1) View
6. 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
7. Paydar S, Pahlevanynejad S, Asadi F, Ehtesham H, Sabahi A, Hosseini Farash B. Development and validation of the Iranian Minimum Data Set for Epidermolysis Bullosa: A mixed method approach. PLOS ONE 2025;20(1):e0316791 View
8. Nopour R, Nasiri S, Ahmadi M, Shirkhoda M. Establishing core data elements for colorectal cancer and mapping to FHIR resources: Towards interoperable Iranian health information systems. Journal of Education and Health Promotion 2025;14(1) View
9. 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
10. Bernardi F, de Oliveira B, de Moraes J, Baiochi J, Lima V, Ferraz V, Alves D, Félix T, Schwartz I. Developing a Genomic Minimum Data Set for Rare Diseases in Brazil: A Delphi Protocol Approach. Procedia Computer Science 2025;256:1294 View
11. 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
12. Liu T, Zhang X, Song X, Zhu Q. Developing a minimum dataset for smart aged care service platforms in China. Health Information Management Journal 2025 View
13. 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
14. Zhang M, Yang J, Li Y, Li Y, Li T, Dong Z, Gong S, Wu Y, Ren M, Fan C, Zhang L, Wang Y, Wang Y, Ren J, Sun F, Shen C, Li K, Liu Z, Zhan S. Minimum Data Set and Metadata for Active Vaccine Safety Surveillance: Systematic Review. JMIR Public Health and Surveillance 2025;11:e63161 View
15. Obeid N, Lavallée N, Bradley A, Norris M. Considerations for informing precision psychiatry in eating disorders: Foundations for future practice. Journal of Eating Disorders 2025;13(1) View
16. Mahdian S, Hooman N, Sheikhtaheri A. Rare kidney disease registries: A scoping review on characteristics and lessons learnt. Health Information Management Journal 2025 View
17. 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
18. Tsitsani P, Papamitsou T, Malliarou M, Soteriades E, Ozbek N. Exploring Current Health Policies on Rare Diseases in Greece: A Narrative Review. International Journal of Pediatrics 2025;2025(1) View
19. 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. Siminiuc S, Țurcanu D, Siminiuc R. 7th International Conference on Nanotechnologies and Biomedical Engineering. View