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945 results

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The GA4GH Phenopacket schema defines a computable representation of clinical data.
Jacobsen JOB, Baudis M, Baynam GS, Beckmann JS, Beltran S, Buske OJ, Callahan TJ, Chute CG, Courtot M, Danis D, Elemento O, Essenwanger A, Freimuth RR, Gargano MA, Groza T, Hamosh A, Harris NL, Kaliyaperumal R, Lloyd KCK, Khalifa A, Krawitz PM, Köhler S, Laraway BJ, Lehväslaiho H, Matalonga L, McMurry JA, Metke-Jimenez A, Mungall CJ, Munoz-Torres MC, Ogishima S, Papakonstantinou A, Piscia D, Pontikos N, Queralt-Rosinach N, Roos M, Sass J, Schofield PN, Seelow D, Siapos A, Smedley D, Smith LD, Steinhaus R, Sundaramurthi JC, Swietlik EM, Thun S, Vasilevsky NA, Wagner AH, Warner JL, Weiland C; GAGH Phenopacket Modeling Consortium; Haendel MA, Robinson PN. Jacobsen JOB, et al. Among authors: roos m. Nat Biotechnol. 2022 Jun;40(6):817-820. doi: 10.1038/s41587-022-01357-4. Nat Biotechnol. 2022. PMID: 35705716 Free PMC article. No abstract available.
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
Sernadela P, González-Castro L, Carta C, van der Horst E, Lopes P, Kaliyaperumal R, Thompson M, Thompson R, Queralt-Rosinach N, Lopez E, Wood L, Robertson A, Lamanna C, Gilling M, Orth M, Merino-Martinez R, Posada M, Taruscio D, Lochmüller H, Robinson P, Roos M, Oliveira JL. Sernadela P, et al. Among authors: roos m. Biomed Res Int. 2017;2017:8327980. doi: 10.1155/2017/8327980. Epub 2017 Oct 29. Biomed Res Int. 2017. PMID: 29214177 Free PMC article.
The case for open science: rare diseases.
Rubinstein YR, Robinson PN, Gahl WA, Avillach P, Baynam G, Cederroth H, Goodwin RM, Groft SC, Hansson MG, Harris NL, Huser V, Mascalzoni D, McMurry JA, Might M, Nellaker C, Mons B, Paltoo DN, Pevsner J, Posada M, Rockett-Frase AP, Roos M, Rubinstein TB, Taruscio D, van Enckevort E, Haendel MA. Rubinstein YR, et al. Among authors: roos m. JAMIA Open. 2020 Sep 11;3(3):472-486. doi: 10.1093/jamiaopen/ooaa030. eCollection 2020 Oct. JAMIA Open. 2020. PMID: 33426479 Free PMC article. Review.
Enabling FAIR Discovery of Rare Disease Digital Resources.
Kaliyaperumal R, Queralt Rosinach N, Burger K, Bonino da Silva Santos LO, Hanauer M, Roos M. Kaliyaperumal R, et al. Among authors: roos m. Stud Health Technol Inform. 2021 May 7;279:144-146. doi: 10.3233/SHTI210101. Stud Health Technol Inform. 2021. PMID: 33965931
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: roos m. 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: roos m. 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.
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. Among authors: roos m. 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.
The value of data.
Mons B, van Haagen H, Chichester C, Hoen PB, den Dunnen JT, van Ommen G, van Mulligen E, Singh B, Hooft R, Roos M, Hammond J, Kiesel B, Giardine B, Velterop J, Groth P, Schultes E. Mons B, et al. Among authors: roos m. Nat Genet. 2011 Mar 29;43(4):281-3. doi: 10.1038/ng0411-281. Nat Genet. 2011. PMID: 21445068
Applying the FAIR Data Principles to the Registry of Vascular Anomalies (VASCA).
Dos Santos Vieira B, Groenen K, 't Hoen PAC, Jacobsen A, Roos M, Kaliyaperumal R, Kersloot M, Cornet R, Schultze Kool L. Dos Santos Vieira B, et al. Among authors: roos m. Stud Health Technol Inform. 2020 Jun 23;271:115-116. doi: 10.3233/SHTI200085. Stud Health Technol Inform. 2020. PMID: 32578552
945 results