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Publicaties

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

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics

Comparing Sequence-Based and Literature-Based Pathogenicity Scoring Methods for Human Variants

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

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

Ten quick tips for building FAIR workflows

Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates

Clinical Value of EGFR Copy Number Gain Determined by Amplicon-Based Targeted Next Generation Sequencing in Patients with EGFR-Mutated NSCLC

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)

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