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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. Kaliyaperumal R, et al. Among authors: dos santos vieira b. J Biomed Semantics. 2022 Mar 15;13(1):9. doi: 10.1186/s13326-022-00264-6. J Biomed Semantics. 2022. PMID: 35292119 Free PMC article.
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. Kersloot MG, et al. Among authors: dos santos vieira b. J Biomed Inform. 2021 Oct;122:103897. doi: 10.1016/j.jbi.2021.103897. Epub 2021 Aug 26. J Biomed Inform. 2021. PMID: 34454078 Free article.
The de novo FAIRification process of a registry for vascular anomalies.
Groenen KHJ, Jacobsen A, Kersloot MG, Dos Santos Vieira B, van Enckevort E, Kaliyaperumal R, Arts DL, 't Hoen PAC, Cornet R, Roos M, Kool LS. Groenen KHJ, et al. Among authors: dos santos vieira b. Orphanet J Rare Dis. 2021 Sep 4;16(1):376. doi: 10.1186/s13023-021-02004-y. Orphanet J Rare Dis. 2021. PMID: 34481493 Free PMC article.
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries.
Dos Santos Vieira B, Bernabé CH, Zhang S, Abaza H, Benis N, Cámara A, Cornet R, Le Cornec CMA, 't Hoen PAC, Schaefer F, van der Velde KJ, Swertz MA, Wilkinson MD, Jacobsen A, Roos M. Dos Santos Vieira B, et al. Orphanet J Rare Dis. 2022 Dec 14;17(1):436. doi: 10.1186/s13023-022-02558-5. Orphanet J Rare Dis. 2022. PMID: 36517834 Free PMC article.