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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: bernabe ch. 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.
Applying the FAIR principles to data in a hospital: challenges and opportunities in a pandemic.
Queralt-Rosinach N, Kaliyaperumal R, Bernabé CH, Long Q, Joosten SA, van der Wijk HJ, Flikkenschild ELA, Burger K, Jacobsen A, Mons B, Roos M; BEAT-COVID Group; COVID-19 LUMC Group. Queralt-Rosinach N, et al. Among authors: bernabe ch. J Biomed Semantics. 2022 Apr 25;13(1):12. doi: 10.1186/s13326-022-00263-7. J Biomed Semantics. 2022. PMID: 35468846 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. Among authors: bernabe ch. 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.
The use of foundational ontologies in biomedical research.
Bernabé CH, Queralt-Rosinach N, Silva Souza VE, Bonino da Silva Santos LO, Mons B, Jacobsen A, Roos M. Bernabé CH, et al. J Biomed Semantics. 2023 Dec 11;14(1):21. doi: 10.1186/s13326-023-00300-z. J Biomed Semantics. 2023. PMID: 38082345 Free PMC article. Review.