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