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2. Standardization of Questions in Rare Disease Registries: The PRISM Library Project. Richesson RL; Shereff D; Andrews JE Interact J Med Res; 2012 Oct; 1(2):e10. PubMed ID: 23611924 [TBL] [Abstract][Full Text] [Related]
3. The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers. Gainotti S; Torreri P; Wang CM; Reihs R; Mueller H; Heslop E; Roos M; Badowska DM; de Paulis F; Kodra Y; Carta C; Martìn EL; Miller VR; Filocamo M; Mora M; Thompson M; Rubinstein Y; Posada de la Paz M; Monaco L; Lochmüller H; Taruscio D Eur J Hum Genet; 2018 May; 26(5):631-643. PubMed ID: 29396563 [TBL] [Abstract][Full Text] [Related]
6. Rare disease registries: a call to action. Lacaze P; Millis N; Fookes M; Zurynski Y; Jaffe A; Bellgard M; Winship I; McNeil J; Bittles AH Intern Med J; 2017 Sep; 47(9):1075-1079. PubMed ID: 28891182 [TBL] [Abstract][Full Text] [Related]
7. [Patient registries for rare diseases in Germany: concept paper of the NAMSE strategy group]. Storf H; Stausberg J; Kindle G; Quadder B; Schlangen M; Walter MC; Ückert F; Wagner TOF; Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz; 2020 Jun; 63(6):761-770. PubMed ID: 32424556 [TBL] [Abstract][Full Text] [Related]
8. OSSE Goes FAIR - Implementation of the FAIR Data Principles for an Open-Source Registry for Rare Diseases. Schaaf J; Kadioglu D; Goebel J; Behrendt CA; Roos M; van Enckevort D; Ückert F; Sadiku F; Wagner TOF; Storf H Stud Health Technol Inform; 2018; 253():209-213. PubMed ID: 30147075 [TBL] [Abstract][Full Text] [Related]
9. [Registries for rare diseases : OSSE - An open-source framework for technical implementation]. Storf H; Schaaf J; Kadioglu D; Göbel J; Wagner TOF; Ückert F Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz; 2017 May; 60(5):523-531. PubMed ID: 28289778 [TBL] [Abstract][Full Text] [Related]
10. Recommended data elements for health registries: a survey from a German funding initiative. Harkener S; Jenetzky E; Rupp R; Dell J; Engel C; von Bargen MF; Finger R; Glienke M; Heinz C; Jersch P; Martin D; Schmutzler R; Schönthaler M; Suwelack B; Wegner J; Stausberg J BMC Med Inform Decis Mak; 2024 May; 24(1):136. PubMed ID: 38802886 [TBL] [Abstract][Full Text] [Related]
11. Addressing the Data Linking Challenges. Valentic M; Plese B; Pristas I; Ivankovic D Methods Inf Med; 2017; 56(5):407-413. PubMed ID: 29582936 [TBL] [Abstract][Full Text] [Related]
12. Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data. Kaliyaperumal R; Wilkinson MD; Moreno PA; Benis N; Cornet R; Dos Santos Vieira B; Dumontier M; Bernabé CH; Jacobsen A; Le Cornec CMA; Godoy MP; Queralt-Rosinach N; Schultze Kool LJ; Swertz MA; van Damme P; van der Velde KJ; Lalout N; Zhang S; Roos M J Biomed Semantics; 2022 Mar; 13(1):9. PubMed ID: 35292119 [TBL] [Abstract][Full Text] [Related]
13. Achieving interoperability for metadata registries using comparative object modeling. Park YR; Kim JH Stud Health Technol Inform; 2010; 160(Pt 2):1136-9. PubMed ID: 20841861 [TBL] [Abstract][Full Text] [Related]
14. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care. De Antonio M; Dogan C; Daidj F; Eymard B; Puymirat J; Mathieu J; Gagnon C; Katsahian S; ; Hamroun D; Bassez G Orphanet J Rare Dis; 2019 Jun; 14(1):122. PubMed ID: 31159885 [TBL] [Abstract][Full Text] [Related]
15. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB). Rubinstein YR; Groft SC; Bartek R; Brown K; Christensen RA; Collier E; Farber A; Farmer J; Ferguson JH; Forrest CB; Lockhart NC; McCurdy KR; Moore H; Pollen GB; Richesson R; Miller VR; Hull S; Vaught J Contemp Clin Trials; 2010 Sep; 31(5):394-404. PubMed ID: 20609392 [TBL] [Abstract][Full Text] [Related]
16. The Registry Data Warehouse in the European Reference Network for Rare Respiratory Diseases - Background, Conception and Implementation. Schaaf J; Chalmers J; Omran H; Pennekamp P; Sitbon O; Wagner TOF; Reis A; Kadioglu D; Storf H Stud Health Technol Inform; 2021 May; 278():41-48. PubMed ID: 34042874 [TBL] [Abstract][Full Text] [Related]
17. Bridging Documentation and Metadata Standards: Experiences from a Funding Initiative for Registries. Stausberg J; Harkener S Stud Health Technol Inform; 2019 Aug; 264():1046-1050. PubMed ID: 31438084 [TBL] [Abstract][Full Text] [Related]
18. Metadata Definition in Registries: What Is a Data Element? Stausberg J; Harkener S; Burgmer M; Engel C; Finger R; Heinz C; Jenetzky E; Martin D; Rupp R; Schoenthaler M; Schuld C; Suwelack B; Wegner J Stud Health Technol Inform; 2022 May; 294():174-178. PubMed ID: 35612051 [TBL] [Abstract][Full Text] [Related]
19. Achieving Data Liquidity: Lessons Learned from Analysis of 38 Clinical Registries (The Duke-Pew Data Interoperability Project. Tcheng JE; Drozda JP; Gabriel D; Heath A; Wilgus RW; Williams M; Windle TA; Windle JR AMIA Annu Symp Proc; 2019; 2019():864-873. PubMed ID: 32308883 [TBL] [Abstract][Full Text] [Related]
20. De-novo FAIRification via an Electronic Data Capture system by automated transformation of filled electronic Case Report Forms into machine-readable data. Kersloot MG; Jacobsen A; Groenen KHJ; Dos Santos Vieira B; Kaliyaperumal R; Abu-Hanna A; Cornet R; 't Hoen PAC; Roos M; Schultze Kool L; Arts DL J Biomed Inform; 2021 Oct; 122():103897. PubMed ID: 34454078 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]