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Personal Genomes in Practice: Exploring Citizen and Healthcare Professionals' Perspectives on Personalized Genomic Medicine and Personal Health Data Spaces Using a Mixed-Methods Design.
Tommel J, Kenis D, Lambrechts N, Brohet RM, Swysen J, Mollen L, Hoefmans MF, Pusparum M, Evers AWM, Ertaylan G, Roos M, Hens K, Houwink EJF. Tommel J, et al. Among authors: roos m. Genes (Basel). 2023 Mar 24;14(4):786. doi: 10.3390/genes14040786. Genes (Basel). 2023. PMID: 37107544 Free PMC article.
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
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: roos m. 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.
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.
Preserving sequence annotations across reference sequences.
Tatum Z, Roos M, Gibson AP, Taschner PE, Thompson M, Schultes EA, Laros JF. Tatum Z, et al. Among authors: roos m. J Biomed Semantics. 2014 Jun 3;5(Suppl 1 Proceedings of the Bio-Ontologies Spec Interest G):S6. doi: 10.1186/2041-1480-5-S1-S6. eCollection 2014. J Biomed Semantics. 2014. PMID: 25093075 Free PMC article.
Consent Codes: Upholding Standard Data Use Conditions.
Dyke SO, Philippakis AA, Rambla De Argila J, Paltoo DN, Luetkemeier ES, Knoppers BM, Brookes AJ, Spalding JD, Thompson M, Roos M, Boycott KM, Brudno M, Hurles M, Rehm HL, Matern A, Fiume M, Sherry ST. Dyke SO, et al. Among authors: roos m. PLoS Genet. 2016 Jan 21;12(1):e1005772. doi: 10.1371/journal.pgen.1005772. eCollection 2016 Jan. PLoS Genet. 2016. PMID: 26796797 Free PMC article.
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. Gainotti S, et al. Among authors: roos m. Eur J Hum Genet. 2018 May;26(5):631-643. doi: 10.1038/s41431-017-0085-z. Epub 2018 Feb 2. Eur J Hum Genet. 2018. PMID: 29396563 Free PMC article.
934 results