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Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Development and Pilot of a Metadata List and Catalogue in Europe.
Pajouheshnia R, Gini R, Gutierrez L, Swertz MA, Hyde E, Sturkenboom M, Arana A, Franzoni C, Ehrenstein V, Roberto G, Gil M, Maciá MA, Schäfer W, Haug U, Thurin NH, Lassalle R, Droz-Perroteau C, Zaccagnino S, Busto MP, Middelkoop B, Gembert K, Sanchez-Saez F, Rodriguez-Bernal C, Sanfélix-Gimeno G, Hurtado I, Acosta MB, Poblador-Plou B, Carmona-Pírez J, Gimeno-Miguel A, Prados-Torres A, Schultze A, Jansen E, Herings R, Kuiper J, Locatelli I, Jazbar J, Žerovnik Š, Kos M, Smit S, Lind S, Metspalu A, Simou S, Hedenmalm K, Cochino A, Alcini P, Kurz X, Perez-Gutthann S. Pajouheshnia R, et al. Among authors: swertz ma. Pharmacoepidemiol Drug Saf. 2024 Aug;33(8):e5871. doi: 10.1002/pds.5871. Pharmacoepidemiol Drug Saf. 2024. PMID: 39145406
From Inception to ConcePTION: Genesis of a Network to Support Better Monitoring and Communication of Medication Safety During Pregnancy and Breastfeeding.
Thurin NH, Pajouheshnia R, Roberto G, Dodd C, Hyeraci G, Bartolini C, Paoletti O, Nordeng H, Wallach-Kildemoes H, Ehrenstein V, Dudukina E, MacDonald T, De Paoli G, Loane M, Damase-Michel C, Beau AB, Droz-Perroteau C, Lassalle R, Bergman J, Swart K, Schink T, Cavero-Carbonell C, Barrachina-Bonet L, Gomez-Lumbreras A, Giner-Soriano M, Aragón M, Neville AJ, Puccini A, Pierini A, Ientile V, Trifirò G, Rissmann A, Leinonen MK, Martikainen V, Jordan S, Thayer D, Scanlon I, Georgiou ME, Cunnington M, Swertz M, Sturkenboom M, Gini R. Thurin NH, et al. Clin Pharmacol Ther. 2022 Jan;111(1):321-331. doi: 10.1002/cpt.2476. Epub 2021 Nov 26. Clin Pharmacol Ther. 2022. PMID: 34826340 Free PMC article.
Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Lessons Learnt From the MINERVA Project in Europe.
Gini R, Pajouheshnia R, Gutierrez L, Swertz MA, Hyde E, Sturkenboom M, Arana A, Franzoni C, Ehrenstein V, Roberto G, Gil M, Maciá MA, Schäfer W, Haug U, Thurin NH, Lassalle R, Droz-Perroteau C, Zaccagnino S, Busto MP, Middelkoop B, Gembert K, Sanchez-Saez F, Rodriguez-Bernal C, Sanfélix-Gimeno G, Hurtado I, Acosta MB, Poblador-Plou B, Carmona-Pírez J, Gimeno-Miguel A, Prados-Torres A, Schultze A, Jansen E, Herings R, Kuiper J, Locatelli I, Jazbar J, Žerovnik Š, Kos M, Smit S, Lind S, Metspalu A, Simou S, Hedenmalm K, Cochino A, Alcini P, Kurz X, Perez-Gutthann S. Gini R, et al. Among authors: swertz ma. Pharmacoepidemiol Drug Saf. 2024 Aug;33(8):e5884. doi: 10.1002/pds.5884. Pharmacoepidemiol Drug Saf. 2024. PMID: 39145403 No abstract available.
The EU Child Cohort Network's core data: establishing a set of findable, accessible, interoperable and re-usable (FAIR) variables.
Pinot de Moira A, Haakma S, Strandberg-Larsen K, van Enckevort E, Kooijman M, Cadman T, Cardol M, Corpeleijn E, Crozier S, Duijts L, Elhakeem A, Eriksson JG, Felix JF, Fernández-Barrés S, Foong RE, Forhan A, Grote V, Guerlich K, Heude B, Huang RC, Järvelin MR, Jørgensen AC, Mikkola TM, Nader JLT, Pedersen M, Popovic M, Rautio N, Richiardi L, Ronkainen J, Roumeliotaki T, Salika T, Sebert S, Vinther JL, Voerman E, Vrijheid M, Wright J, Yang TC, Zariouh F, Charles MA, Inskip H, Jaddoe VWV, Swertz MA, Nybo Andersen AM; LifeCycle Project Group. Pinot de Moira A, et al. Among authors: swertz ma. Eur J Epidemiol. 2021 May;36(5):565-580. doi: 10.1007/s10654-021-00733-9. Epub 2021 Apr 21. Eur J Epidemiol. 2021. PMID: 33884544 Free PMC article.
CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.
Johansson LF, van Dijk F, de Boer EN, van Dijk-Bos KK, Jongbloed JD, van der Hout AH, Westers H, Sinke RJ, Swertz MA, Sijmons RH, Sikkema-Raddatz B. Johansson LF, et al. Among authors: swertz ma. Hum Mutat. 2016 May;37(5):457-64. doi: 10.1002/humu.22969. Epub 2016 Feb 24. Hum Mutat. 2016. PMID: 26864275
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. Among authors: swertz ma. Sci Data. 2022 Apr 13;9(1):169. doi: 10.1038/s41597-022-01265-x. Sci Data. 2022. PMID: 35418585 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Among authors: swertz ma. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks.
Pang C, van Enckevort D, de Haan M, Kelpin F, Jetten J, Hendriksen D, de Boer T, Charbon B, Winder E, van der Velde KJ, Doiron D, Fortier I, Hillege H, Swertz MA. Pang C, et al. Among authors: swertz ma. Bioinformatics. 2016 Jul 15;32(14):2176-83. doi: 10.1093/bioinformatics/btw155. Epub 2016 Mar 21. Bioinformatics. 2016. PMID: 27153686 Free PMC article.
Leveraging European infrastructures to access 1 million human genomes by 2022.
Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Heringa J, Holub P, Hooyberghs J, Juty N, Keane TM, Korbel JO, Lappalainen I, Leskosek B, Matthijs G, Mayrhofer MT, Metspalu A, Navarro A, Newhouse S, Nyrönen T, Page A, Persson B, Palotie A, Parkinson H, Rambla J, Salgado D, Steinfelder E, Swertz MA, Valencia A, Varma S, Blomberg N, Scollen S. Saunders G, et al. Among authors: swertz ma. Nat Rev Genet. 2019 Nov;20(11):693-701. doi: 10.1038/s41576-019-0156-9. Epub 2019 Aug 27. Nat Rev Genet. 2019. PMID: 31455890 Free PMC article. Review.
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