dr. K.J. (Joeri) van der Velde

Postdoc bioinformatics

Faculty of Medical Sciences

Telephone:

+31 50 361 7100

E-mail:

k.j.van.der.velde umcg.nl

ORCID Research Portal

Publications

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 Hoen, P. A. C. T. , Belien, J. A. M. , van Gijn, M. E. & Swertz, M. A. , 13-Apr-2022 , In: Scientific data. 9 , 1 , 13 p. , 169.

Research output: Contribution to journal › Article › Academic › peer-review

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

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

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics

Alimohamed, M. Z. , Westers, H. , Vos, Y. J. , Van der Velde, K. J. , Sijmons, R. H. , Van der Zwaag, P. A. , Sikkema-Raddatz, B. & Jongbloed, J. D. H. , 1-Mar-2022 , In: Frontiers in Genetics. 13 , 7 p. , 824510.

Research output: Contribution to journal › Article › Academic › peer-review

Blockchain for Genomics: A Systematic Literature Review

Alghazwi, M. , Turkmen, F. , Velde, J. V. D. & Karastoyanova, D. , 19-Nov-2021 , arXiv , 33 p.

Research output: Working paper › Preprint › Academic

Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)

Solve-RD-DITF-RND , The Solve-RD Consortium , Schüle, R. , Timmann, D. , Erasmus, C. E. , Reichbauer, J. , Wayand, M. , van de Warrenburg, B. , Schöls, L. , Wilke, C. , Bevot, A. , Zuchner, S. , Beltran, S. , Laurie, S. , Matalonga, L. , Graessner, H. & Synofzik, M. , Sep-2021 , In: European Journal of Human Genetics. 29 , 9 , p. 1462-1465 4 p.

Research output: Contribution to journal › Erratum

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)

Solve-RD SNV-indel working group , Solve-RD-DITF-ITHACA , de Boer, E. , Ockeloen, C. W. , Matalonga, L. , Horvath, R. , Rodenburg, R. J. , Coenen, M. J. H. , Janssen, M. , Henssen, D. , Gilissen, C. , Steyaert, W. , Paramonov, I. , Trimouille, A. , Kleefstra, T. , Verloes, A. & Vissers, L. E. L. M. , Sep-2021 , In: European Journal of Human Genetics. 29 , 9 , p. 1470-1471 2 p.

Research output: Contribution to journal › Erratum

Feasibility of predicting allele specific expression from DNA sequencing using machine learning

Zhang, Z. , van Dijk, F. , de Klein, N. , van Gijn, M. E. , Franke, L. H. , Sinke, R. J. , Swertz, M. A. & van der Velde, K. J. , 19-May-2021 , In: Scientific Reports. 11 , 1 , 11 p. , 10606.

Research output: Contribution to journal › Article › Academic › peer-review

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Solve-RD SNV-indel working group, Solve-RD DITF-GENTURIS, Solve-RD-DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD-DITF-RND, the Solve-RD Consortia, Matalonga, L., Hernández-Ferrer, C., Piscia, D., Schüle, R., Synofzik, M., Töpf, A., Vissers, L. E. L. M., de Voer, R. M., Tonda, R., Laurie, S., Fernandez-Callejo, M., Picó, D., Garcia-Linares, C., Papakonstantinou, A., & 7 others Corvó, A. , Joshi, R. , Diez, H. , Gut, I. , Hoischen, A. , Graessner, H. & Beltran, S. , Sep-2021 , In: European Journal of Human Genetics. 29 , 9 , p. 1337-1347 11 p.

Research output: Contribution to journal › Article › Academic › peer-review

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital

Imafidon, M. E. , Sikkema-Raddatz, B. , Abbott, K. M. , Meems-Veldhuis, M. T. , Swertz, M. A. , van der Velde, K. J. , Beunders, G. , Bos, D. K. , Knoers, N. V. A. M. , Kerstjens-Frederikse, W. S. & van Diemen, C. C. , 31-May-2021 , In: Frontiers in Pediatrics. 9 , 15 p. , 600556.

Research output: Contribution to journal › Article › Academic › peer-review

All (53) publications

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