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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. 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.
The Implicitome: A Resource for Rationalizing Gene-Disease Associations.
Hettne KM, Thompson M, van Haagen HH, van der Horst E, Kaliyaperumal R, Mina E, Tatum Z, Laros JF, van Mulligen EM, Schuemie M, Aten E, Li TS, Bruskiewich R, Good BM, Su AI, Kors JA, den Dunnen J, van Ommen GJ, Roos M, 't Hoen PA, Mons B, Schultes EA. Hettne KM, et al. PLoS One. 2016 Feb 26;11(2):e0149621. doi: 10.1371/journal.pone.0149621. eCollection 2016. PLoS One. 2016. PMID: 26919047 Free PMC article.
Drug prioritization using the semantic properties of a knowledge graph.
Malas TB, Vlietstra WJ, Kudrin R, Starikov S, Charrout M, Roos M, Peters DJM, Kors JA, Vos R, 't Hoen PAC, van Mulligen EM, Hettne KM. Malas TB, et al. Sci Rep. 2019 Apr 18;9(1):6281. doi: 10.1038/s41598-019-42806-6. Sci Rep. 2019. PMID: 31000794 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. 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 RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Laurie S, Piscia D, Matalonga L, Corvó A, Fernández-Callejo M, Garcia-Linares C, Hernandez-Ferrer C, Luengo C, Martínez I, Papakonstantinou A, Picó-Amador D, Protasio J, Thompson R, Tonda R, Bayés M, Bullich G, Camps-Puchadas J, Paramonov I, Trotta JR, Alonso A, Attimonelli M, Béroud C, Bros-Facer V, Buske OJ, Cañada-Pallarés A, Fernández JM, Hansson MG, Horvath R, Jacobsen JOB, Kaliyaperumal R, Lair-Préterre S, Licata L, Lopes P, López-Martín E, Mascalzoni D, Monaco L, Pérez-Jurado LA, Posada de la Paz M, Rambla J, Rath A, Riess O, Robinson PN, Salgado D, Smedley D, Spalding D, 't Hoen PAC, Töpf A, Zaharieva I, Graessner H, Gut IG, Lochmüller H, Beltran S. Laurie S, et al. Hum Mutat. 2022 Jun;43(6):717-733. doi: 10.1002/humu.24353. Hum Mutat. 2022. PMID: 35178824 Free PMC article.
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.
van der Velde KJ, Singh G, Kaliyaperumal R, Liao X, de Ridder S, Rebers S, Kerstens HHD, de Andrade F, van Reeuwijk J, De Gruyter FE, Hiltemann S, Ligtvoet M, Weiss MM, van Deutekom HWM, Jansen AML, Stubbs AP, Vissers LELM, Laros JFJ, van Enckevort E, Stemkens D, 't Hoen PAC, Beliën JAM, van Gijn ME, Swertz MA. van der Velde KJ, et al. Sci Data. 2022 Apr 13;9(1):169. doi: 10.1038/s41597-022-01265-x. Sci Data. 2022. PMID: 35418585 Free PMC article.
229 results