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Publicaties

An interconnected data infrastructure to support large-scale rare disease research

A Resource for Guiding Data Stewards to Make European Rare Disease Patient Registries FAIR

Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching

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

Surveyed common data access policies preferences amongst European Reference Networks

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

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

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