Marinus J. Blok

Clinical long-read genome sequencing for rare disease diagnostics

This study evaluates long-read genome sequencing in rare disease diagnostics, finding high concordance with standard-of-care tests and incremental diagnostic benefits.

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk

This study identifies seven novel genetic loci associated with high-grade serous ovarian cancer risk using a large-scale GWAS and develops polygenic scores for improved risk prediction.

Genome sequencing as a generic diagnostic strategy for rare disease

This study evaluates genome sequencing as a primary diagnostic tool for rare diseases, finding it can detect 95% of clinically relevant variants with a 0.3% false negative rate.

Pathogenic Neurofibromatosis type 1 (NF1) RNA-splicing resolved by targeted RNAseq

This paper develops a targeted RNAseq approach to detect pathogenic RNA splicing variants in NF1, identifying novel splicing events and confirming splice variants in patients with NF1 symptoms.