Skip to ContentSkip to Navigation
Over ons Praktische zaken Waar vindt u ons dr. L.F. (Lennart) Johansson

Publicaties

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

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)

Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients

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

Clinical value of EGFR gene amplifications detected using amplicon based targeted next generation sequencing data in lung adenocarcinoma patients

Lees meer