Esther van Enckevort

Zoekresultaten

• 2023

  Semiautomatic translation of medicine usage data (in Dutch, free-text) from Lifelines COVID-19 questionnaires to ATC codes

  Kellmann, A., Lanting, P., Franke, L. H., van Enckevort, E. & Swertz, M. A., 2023, In: Database-The journal of biological databases and curation.

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• 2022

  FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research

  van der Velde, K. J., Singh, G., Kaliyaperumal, R., Liao, X., de Ridder, S., Rebers, S., Kerstens, H. H. D., de Andrade, F., van Reeuwijk, J., De Gruyter, F. E., Hiltemann, S., Ligtvoet, M., Weiss, M. M., van Deutekom, H. W. M., Jansen, A. M. L., Stubbs, A. P., Vissers, L. E. L. M., Laros, J. F. J., van Enckevort, E., Stemkens, D., & 4 anderenHoen, P. A. C. T., Belien, J. A. M., van Gijn, M. E. & Swertz, M. A., 13-apr.-2022, In: Scientific Data. 9, 1, 13 blz., 169.

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• Life course of retrospective harmonization initiatives: key elements to consider

  Fortier, I., Wey, T. W., Bergeron, J., Pinot de Moira, A., Nybo-Andersen, A-M., Bishop, T., Murtagh, M. J., Miocevic, M., Swertz, M. A., van Enckevort, E., Marcon, Y., Mayrhofer, M. T., Ornelas, J. P., Sebert, S., Santos, A. C., Rocha, A., Wilson, R. C., Griffith, L. E. & Burton, P., 12-aug.-2022, (E-pub ahead of print) In: Journal of developmental origins of health and disease. 9 blz.

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• LongITools: Dynamic longitudinal exposome trajectories in cardiovascular and metabolic noncommunicable diseases

  LongITools Project Group, Ronkainen, J., Nedelec, R., Atehortua, A., Balkhiyarova, Z., Cascarano, A., Ngoc Dang, V., Elhakeem, A., van Enckevort, E., Goncalves Soares, A., Haakma, S., Halonen, M., Heilb, K. F., Heiskala, A., Hyde, E., Jacquemin, B., Keikkala, E., Kerckhoffs, J., Klåvus, A., Kopinska, J. A., & 32 anderenLepeule, J., Marazzi, F., Motoc, I., Näätänen, M., Ribbenstedt, A., Rundblad, A., Savolainen, O., Simonetti, V., De Toro Eadie, N., Tzala, E., Ulrich, A., Wright, T., Zarei, I., D'Amicov, E., Belotti, F., Bruniu, C., Castleton, C., Charles, M. A., Gaillard, R., Hanhineva, K., Hoek, G., Holven, K. B., Jaddoe, V. W. V., Kaakinen, M. A., Kajantie, E., Kavousi, M., Lakka, T., Matthews, J., Piano Mortari, A., Vääräsmäki, M., Swertz, M. & Sebert, S., 28-feb.-2022, In: Environmental Epidemiology. 6, 1, 12 blz., e184.

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• Towards an Interoperable Ecosystem of Research Cohort and Real-world Data Catalogues Enabling Multi-center Studies

  Swertz, M., van Enckevort, E., Oliveira, J. L., Fortier, I., Bergeron, J., Thurin, N. H., Hyde, E., Kellmann, A., Pahoueshnja, R., Sturkenboom, M., Cunnington, M., Nybo Andersen, A. M., Marcon, Y., Gonçalves, G. & Gini, R., 4-dec.-2022, In: Yearbook of medical informatics. 31, 1, blz. 262-272 11 blz.

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• 2021

  Advancing tools for human early lifecourse exposome research and translation (ATHLETE)

  Vrijheid, M., Basagaña, X., Gonzalez, J. R., Jaddoe, V. W. V., Jensen, G., Keun, H. C., McEachan, R. R. C., Porcel, J., Siroux, V., Swertz, M. A., Thomsen, C., Aasvang, G. M., Andrušaitytė, S., Angeli, K., Avraam, D., Ballester, F., Burton, P., Bustamante, M., Casas, M., Chatzi, L., & 59 anderenChevrier, C., Cingotti, N., Conti, D., Crépet, A., Dadvand, P., Duijts, L., van Enckevort, E., Esplugues, A., Fossati, S., Garlantezec, R., Roig, M. D. G., Grazuleviciene, R., Gützkow, K. B., Guxens, M., Haakma, S., Hessel, E. V. S., Hoyles, L., Hyde, E., Klanova, J., van Klaveren, J. D., Kortenkamp, A., Le Brusquet, L., Leenen, I., Lertxundi, A., Lertxundi, N., Lionis, C., Llop, S., Lopez-Espinosa, M. J., Lyon-Caen, S., Maitre, L., Mason, D., Mathy, S., Mazarico, E., Nawrot, T., Nieuwenhuijsen, M., Ortiz, R., Pedersen, M., Perelló, J., Pérez-Cruz, M., Philippat, C., Piler, P., Pizzi, C., Quentin, J., Richiardi, L., Rodriguez, A., Roumeliotaki, T., Capote, J. M. S., Santiago, L., Santos, S., Siskos, A. P., Strandberg-Larsen, K., Stratakis, N., Sunyer, J., Tenenhaus, A., Vafeiadi, M., Wilson, R. C., Wright, J., Yang, T. & Slama, R., 1-okt.-2021, In: Environmental Epidemiology. 5, 5, E166.

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• BBMRI-ERIC Negotiator: Implementing Efficient Access to Biobanks

  Reihs, R., Proynova, R., Maqsood, S., Ataian, M., Lablans, M., Quinlan, P. R., Lawrence, E., Bowman, E., van Enckevort, E., Bucik, D. F., Mueller, H. & Holub, P., okt.-2021, In: Biopreservation and biobanking. 19, 5, blz. 414-421 8 blz.

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• The de novo FAIRification process of a registry for vascular anomalies

  Groenen, K. H. J., Jacobsen, A., Kersloot, M. G., dos Santos Vieira, B., van Enckevort, E., Kaliyaperumal, R., Arts, D. L., 't Hoen, P. A. C., Cornet, R., Roos, M. & Kool, L. S., 4-sep.-2021, In: Orphanet journal of rare diseases. 16, 1, 10 blz., 376.

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  5 Citaten (Scopus)

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• The EU Child Cohort Network's core data: establishing a set of findable, accessible, interoperable and re-usable (FAIR) variables

  LifeCycle Project Group, 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, J. G., Felix, J. F., Fernández-Barrés, S., Foong, R. E., Forhan, A., Grote, V., Guerlich, K., Heude, B., & 24 anderenHuang, R-C., Järvelin, M-R., Jørgensen, A. C., Mikkola, T. M., Nader, J. L. T., Pedersen, M., Popovic, M., Rautio, N., Richiardi, L., Ronkainen, J., Roumeliotaki, T., Salika, T., Sebert, S., Vinther, J. L., Voerman, E., Vrijheid, M., Wright, J., Yang, T. C., Zariouh, F., Charles, M-A., Inskip, H., Jaddoe, V. W. V., Swertz, M. A. & Nybo Andersen, A-M., mei-2021, In: European Journal of Epidemiology. 36, 5, blz. 565-580 16 blz.

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  44 Downloads (Pure)
• 2020

  BBMRI-ERIC's contributions to research and knowledge exchange on COVID-19

  BBMRI-ERIC Community, Holub, P., Kozera, L., Florindi, F., van Enckevort, E., Swertz, M., Reihs, R., Wutte, A., Valik, D. & Mayrhofer, M. T., jun.-2020, In: European Journal of Human Genetics. 28, 6, blz. 728-731 4 blz.

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  14 Citaten (Scopus)

  88 Downloads (Pure)

• Expanding the BBMRI-ERIC Directory into a Global Catalogue of COVID-19-Ready Collections: A Joint Initiative of BBMRI-ERIC and ISBER

  Catchpoole, D. R., Florindi, F., Ahern, C., Garcia, D. L., Mullins, P., Van Enckevort, E., Zaayenga, A., Mayrhofer, M. T. & Holub, P., 29-sep.-2020, In: Biopreservation and biobanking. 18, 5, blz. 479-480 2 blz.

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  5 Citaten (Scopus)

  41 Downloads (Pure)

• Extending the Minimum Information About BIobank Data Sharing Terminology to Describe Samples, Sample Donors, and Events

  Eklund, N., Andrianarisoa, N. H., van Enckevort, E., Anton, G., Debucquoy, A., Mueller, H., Zaharenko, L., Engels, C., Ebert, L., Neumann, M., Geeraert, J., T'Joen, V., Demski, H., Caboux, E., Proynova, R., Parodi, B., Mate, S., van Iperen, E., Merino-Martinez, R., Quinlan, P. R., & 2 anderenHolub, P. & Silander, K., 1-jun.-2020, In: Biopreservation and biobanking. 18, 3, blz. 155-164 10 blz.

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  77 Downloads (Pure)
• 2019

  Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

  FREX Consortium, GoNL Consortium, Kim, A., Savary, C., Dubourg, C., Carre, W., Mouden, C., Guyodo, H., Le Douce, J., Pasquier, L., Flori, E., Gonzales, M., Beneteau, C., Boute, O., Attie-Bitach, T., Roume, J., Goujon, L., Akloul, L., Odent, S., Watrin, E., & 3 anderenDupe, V., de Tayrac, M. & David, V., jan.-2019, In: Brain. 142, 1, blz. 35-49 15 blz.

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  36 Citaten (Scopus)

  16 Downloads (Pure)

• MOLGENIS Research: Advanced bioinformatics data software for non-bioinformaticians

  van der Velde, K. J., Imhann, F., Charbon, B., Pang, C., van Enckevort, D., Slofstra, M., Barbieri, R., Alberts, R., Hendriksen, D., Kelpin, F., de Haan, M., de Boer, T., Haakma, S., Stroomberg, C., Scholtens, S., van de Geijn, G-J., Festen, E. A. M., Weersma, R. K. & Swertz, M. A., 15-mrt.-2019, In: Bioinformatics (Oxford, England). 35, 6, blz. 1076-1078 3 blz.

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  27 Citaten (Scopus)

  233 Downloads (Pure)

• Privacy-Preserving Linkage of Genomic and Clinical Data Sets

  Baker, D. B., Knoppers, B. M., Phillips, M., van Enckevort, D., Kaufmann, P., Lochmuller, H. & Taruscio, D., 31-jul.-2019, In: IEEE/ACM Transactions on Computational Biology and Bioinformatics. 16, 4, blz. 1342-1348 7 blz.

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  13 Citaten (Scopus)

  215 Downloads (Pure)

• Skewed X-inactivation is common in the general female population

  BIOS Consortium & GoNL Consortium, mrt.-2019, In: European Journal of Human Genetics. 27, 3, blz. 455-465 11 blz.

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  74 Citaten (Scopus)

  365 Downloads (Pure)

• WGS-based telomere length analysis in Dutch family trios implicates stronger maternal inheritance and a role for RRM1 gene

  Genome Netherlands Consortium, Nersisyan, L. & Nikoghosyan, M., 10-dec.-2019, In: Scientific Reports. 9, 9 blz., 18758.

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  4 Citaten (Scopus)

  104 Downloads (Pure)
• 2018

  MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases

  Townend, G. S., Ehrhart, F., van Kranen, H. J., Wilkinson, M., Jacobsen, A., Roos, M., Willighagen, E. L., van Enckevort, D., Evelo, C. T. & Curfs, L. M. G., jul.-2018, In: Human Mutation. 39, 7, blz. 914-924 11 blz.

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  10 Citaten (Scopus)

  428 Downloads (Pure)
• 2017

  BiobankUniverse: Automatic matchmaking between datasets for biobank data discovery and integration

  Pang, C., Kelpin, F., van Enckevort, D., Eklund, N., Silander, K., Hendriksen, D., de Haan, M., Jetten, J., de Boer, T., Charbon, B., Holub, P., Hillege, H. & Swertz, M. A., 15-nov.-2017, In: Bioinformatics. 33, 22, blz. 3627-3634 8 blz.

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  2 Citaten (Scopus)

  276 Downloads (Pure)

• Systematically linking tranSMART, Galaxy and EGA for reusing human translational research data

  Zhang, C., Bijlard, J., Staiger, C., Scollen, S., van Enckevort, D., Hoogstrate, Y., Senf, A., Hiltemann, S., Repo, S., Pipping, W., Bierkens, M., Payralbe, S., Stringer, B., Heringa, J., Stubbs, A., Bonino Da Silva Santos, L. O., Belien, J., Weistra, W., Azevedo, R., van Bochove, K., & 6 anderenMeijer, G., Boiten, J. W., Rambla, J., Fijneman, R., Spalding, J. D. & Abeln, S., 2017, In: F1000Research. 6, 1488.

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  7 Citaten (Scopus)

  88 Downloads (Pure)
• 2016

  BBMRI-ERIC Directory: 515 Biobanks with Over 60 Million Biological Samples

  Holub, P., Swertz, M., Reihs, R., van Enckevort, D., Mueller, H. & Litton, J-E., dec.-2016, In: Biopreservation and biobanking. 14, 6, blz. 559-562 4 blz.

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  62 Citaten (Scopus)

  138 Downloads (Pure)

• 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., Velde, van der, K. J., Doiron, D., Fortier, I., Hillege, H. & Swertz, M. A., 15-jul.-2016, In: Bioinformatics. 32, 14, blz. 2176-2183 8 blz.

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  13 Citaten (Scopus)

  97 Downloads (Pure)

• Toward Global Biobank Integration by Implementation of the Minimum Information About BIobank Data Sharing (MIABIS 2.0 Core)

  Merino-Martinez, R., Norlin, L., van Enckevort, D., Anton, G., Schuffenhauer, S., Silander, K., Mook, L., Holub, P., Bild, R., Swertz, M. & Litton, J-E., aug.-2016, In: Biopreservation and biobanking. 14, 4, blz. 298-306 9 blz.

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  61 Citaten (Scopus)

  110 Downloads (Pure)
• 2015

  Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

  van Leeuwen, E. M., Karssen, L. C., Deelen, J., Isaacs, A., Medina-Gomez, C., Mbarek, H., Kanterakis, A., Trompet, S., Postmus, I., Verweij, N., van Enckevort, D. J., Huffman, J. E., White, C. C., Feitosa, M. F., Bartz, T. M., Manichaikul, A., Joshi, P. K., Peloso, G. M., Deelen, P., van Dijk, F., & 31 anderenWillemsen, G., de Geus, E. J., Milaneschi, Y., Penninx, B. W. J. H., Francioli, L. C., Menelaou, A., Pulit, S. L., Rivadeneira, F., Hofman, A., Oostra, B. A., Franco, O. H., Leach, I. M., Beekman, M., de Craen, A. J. M., Uh, H-W., Trochet, H., Hocking, L. J., Porteous, D. J., Sattar, N., Packard, C. J., Buckley, B. M., Brody, J. A., Bis, J. C., Rotter, J. I., Mychaleckyj, J. C., Campbell, H., Duan, Q., van der Harst, P., Swertz, M. A., Wijmenga, C. & Genome Netherlands Consortium, mrt.-2015, In: Nature Communications. 6, 6 blz., 6065.

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  32 Citaten (Scopus)

  278 Downloads (Pure)
• 2014

  Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'

  Deelen, P., Menelaou, A., van Leeuwen, E. M., Kanterakis, A., van Dijk, F., Medina-Gomez, C., Francioli, L. C., Hottenga, J. J., Karssen, L. C., Estrada, K., Kreiner-Moller, E., Rivadeneira, F., van Setten, J., Gutierrez-Achury, J., Westra, H-J., Franke, L., van Enckevort, D., Dijkstra, M., Byelas, H., van Duijn, C. M., & 4 anderende Bakker, P. I. W., Wijmenga, C., Swertz, M. A. & Genome Netherlands Consortium, nov.-2014, In: European Journal of Human Genetics. 22, 11, blz. 1321-1326 6 blz.

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  75 Citaten (Scopus)

  75 Downloads (Pure)

• The Genome of the Netherlands: design, and project goals

  Boomsma, D. I., Wijmenga, C., Slagboom, E. P., Swertz, M. A., Karssen, L. C., Abdellaoui, A., Ye, K., Guryev, V., Vermaat, M., van Dijk, F., Francioli, L. C., Hottenga, J. J., Laros, J. F. J., Li, Q., Li, Y., Cao, H., Chen, R., Du, Y., Li, N., Cao, S., & 32 anderenvan Setten, J., Menelaou, A., Pulit, S. L., Hehir-Kwa, J. Y., Beekman, M., Elbers, C. C., Byelas, H., de Craen, A. J. M., Deelen, P., Dijkstra, M., den Dunnen, J. T., de Knijff, P., Houwing-Duistermaat, J., Koval, V., Estrada, K., Hofman, A., Kanterakis, A., van Enckevort, D., Mai, H., Kattenberg, M., van Leeuwen, E. M., Neerincx, P. B. T., Oostra, B., Rivadeneira, F., Suchiman, E. H. D., Uitterlinden, A. G., Willemsen, G., Wolffenbuttel, B. H., Wang, J., de Bakker, P. I. W., van Ommen, G-J. & van Duijn, C. M., feb.-2014, In: European Journal of Human Genetics. 22, 2, blz. 221-227 7 blz.

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  181 Citaten (Scopus)

  83 Downloads (Pure)

• Whole-genome sequence variation, population structure and demographic history of the Dutch population

  Francioli, L. C., Menelaou, A., Pulit, S. L., Van Dijk, F., Palamara, P. F., Elbers, C. C., Neerincx, P. B. T., Ye, K., Guryev, V., Kloosterman, W. P., Deelen, P., Abdellaoui, A., Van Leeuwen, E. M., Van Oven, M., Vermaat, M., Li, M., Laros, J. F. J., Karssen, L. C., Kanterakis, A., Amin, N., & 32 anderenHottenga, J. J., Lameijer, E-W., Kattenberg, M., Dijkstra, M., Byelas, H., Van Settenl, J., Van Schaik, B. D. C., Bot, J., Nijman, I. J., Renkens, I., Marscha, T., Schonhuth, A., Hehir-Kwa, J. Y., Handsaker, R. E., Polak, P., Sohail, M., Vuzman, D., Hormozdiari, F., Van Enckevort, D., Mei, H., Koval, V., Moed, M-T. H., Van der Velde, K. J., Rivadeneira, F., Estrada, K., Medina-Gomez, C., Isaacs, A., Platteel, M., Swertz, M. A., Wijmenga, C., Genome Netherlands Consortium & Lifelines Cohort Study, aug.-2014, In: Nature Genetics. 46, 8, blz. 818-825 8 blz.

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  507 Citaten (Scopus)