Research output per year
Research output per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching
Maassen, W., Legger, G., Kul Cinar, O., van Daele, P., Gattorno, M., Bader-Meunier, B., Wouters, C., Briggs, T., Johansson, L., van der Velde, J., Swertz, M., Omoyinmi, E., Hoppenreijs, E., Belot, A., Eleftheriou, D., Caorsi, R., Aeschlimann, F., Boursier, G., Brogan, P., Haimel, M., & 1 others, 12-Sept-2023, In: Frontiers in Immunology. 14, 9 p., 1215869.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Downloads (Pure) -
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
on behalf of RADICON-NL consortium, Olde Keizer, R. A. C. M., Marouane, A., Kerstjens-Frederikse, W. S., Deden, A. C., Lichtenbelt, K. D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L. S., Sinke, R. J., Pfundt, R., Stevens, S. J. C., Andriessen, P., van Lingen, R. A., Nelen, M., Scheffer, H., Stemkens, D., Oosterwijk, C., & 5 others, Jun-2023, In: European Journal of Pediatrics. 182, 6, p. 2683-2692 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)1 Downloads (Pure) -
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 others, 13-Apr-2022, In: Scientific Data. 9, 1, 13 p., 169.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Citations (Scopus)57 Downloads (Pure) -
Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data
Kaliyaperumal, R., Wilkinson, M. D., Moreno, P. A., Benis, N., Cornet, R., Vieira, B. D. S., Dumontier, M., Bernabe, C. H., Jacobsen, A., Le Cornec, C. M. A., Godoy, M. P., Queralt-Rosinach, N., Kool, L. J. S., Swertz, M. A., van Damme, P., van der Velde, K. J., Lalout, N., Zhang, S. & Roos, M., 15-Mar-2022, In: Journal of Biomedical Semantics. 13, 1, 16 p., 9.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile8 Citations (Scopus)42 Downloads (Pure) -
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries
dos Santos Vieira, B., Bernabé, C. H., Zhang, S., Abaza, H., Benis, N., Cámara, A., Cornet, R., Le Cornec, C. M. A., ’t Hoen, P. A. C., Schaefer, F., van der Velde, K. J., Swertz, M. A., Wilkinson, M. D., Jacobsen, A. & Roos, M., 14-Dec-2022, In: Orphanet journal of rare diseases. 17, 1, 12 p., 436.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus)43 Downloads (Pure)
Activities
- 1 Academic presentation
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BioSB 2020
Lennart Johansson (Speaker), Gerben Vries, van der (Contributor), Pieter Neerincx (Contributor), Fernanda Andrade, de (Contributor), Dieuwke Roelofs-Prins (Contributor), Roan Kanninga (Contributor), Marieke Bijlsma (Contributor), Joeri Velde, van der (Contributor), Dennis Hendriksen (Contributor), Egon Rijpkema (Contributor), Wim Nap (Contributor), Henk-Jan Zilverberg (Contributor), Fokke Dijkstra (Contributor), Jan Jurjen Uitterdijk (Contributor), Gert-Jan Geijn, van de (Contributor), Steven Laurie (Contributor), Davide Piscia (Contributor), Giselle Kerry (Contributor), Anand Mohan (Contributor), Dylan Spalding (Contributor), Sergi Beltran (Contributor), Anthony Brookes (Contributor) & Morris Swertz (Contributor)
27-Oct-2020 → 28-Oct-2020Activity: Talk and presentation › Academic presentation › Academic
File
Datasets
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Additional file 2: Table S2. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
de Koning, T. (Contributor), Sijmons, R. (Contributor), Raddatz, B. (Contributor), Swertz, M. (Contributor), de Boer, E. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor), van Diemen, C. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Abbott, K. (Contributor) & van der Velde, J. (Contributor), University of Groningen, 16-Jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d2.v1
Dataset
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Additional file 3: Table S3. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-Jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d3.v1
Dataset
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Additional file 4: Table S4. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van Diemen, C. (Contributor), Wijmenga, C. (Contributor), Franke, L. (Contributor), van der Velde, J. (Contributor), Sinke, R. (Contributor), Swertz, M. (Contributor), Raddatz, B. (Contributor), de Boer, E. (Contributor), Knopperts, A. (Contributor), de Koning, T. (Contributor), Sijmons, R. (Contributor) & Abbott, K. (Contributor), University of Groningen, 16-Jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d1.v1
Dataset
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Additional file 1: Table S1. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, J. (Contributor), de Boer, E. (Contributor), van Diemen, C. (Contributor), Raddatz, B. (Contributor), Abbott, K. (Contributor), Knopperts, A. (Contributor), Franke, L. (Contributor), Sijmons, R. (Contributor), de Koning, T. (Contributor), Wijmenga, C. (Contributor), Sinke, R. (Contributor) & Swertz, M. (Contributor), University of Groningen, 16-Jan-2017
DOI: 10.6084/m9.figshare.c.3666643_d4.v1
Dataset
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Additional file 1: of The 1000IBD project: multi-omics data of 1000 inflammatory bowel disease patients; data release 1
Imhann, F. (Contributor), van der Velde, J. (Contributor), Barbieri, R. (Contributor), Alberts, R. (Contributor), Voskuil, M. (Contributor), Vich Vila, A. (Contributor), Collij, V. (Contributor), Spekhorst, L. (Contributor), van der Sloot, K. (Contributor), Peters, V. (Contributor), van Dullemen, H. (Contributor), Visschedijk, M. (Contributor), Festen, N. (Contributor), Swertz, M. (Contributor), Dijkstra, G. (Contributor) & Weersma, R. (Contributor), University of Groningen, 8-Jan-2019
DOI: 10.6084/m9.figshare.7563995.v1
Dataset