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Practical matters How to find us dr. K.J. (Joeri) van der Velde

Publications

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

Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data

Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries

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

Blockchain for Genomics: A Systematic Literature Review

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)

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)

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

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

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

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