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Recommendations for Improving the Quality of Rare Disease Registries.
Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, Bros-Facer V, Popa V, Van Meel M, Renault D, von Gizycki R, Santoro M, Landais P, Torreri P, Carta C, Mascalzoni D, Gainotti S, Lopez E, Ambrosini A, Müller H, Reis R, Bianchi F, Rubinstein YR, Lochmüller H, Taruscio D. Kodra Y, et al. Among authors: roos m. Int J Environ Res Public Health. 2018 Aug 3;15(8):1644. doi: 10.3390/ijerph15081644. Int J Environ Res Public Health. 2018. PMID: 30081484 Free PMC article.
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 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.
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
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.
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: roos m. 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: 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.
931 results