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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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