Roelof Koster

This study compares whole-genome sequences of adolescent and young adult solid cancers to older adult cancers, finding shared genetic drivers but age-related differences in mutational processes and germline variants.

This study identifies pathogenic germline variants in 11% of adult glioblastoma patients, with mismatch repair deficiency as the main predisposition mechanism.

This study evaluates genetic counselling strategies for genome sequencing-based tumour diagnostics, finding that post-test strategies reduce unnecessary referrals while maintaining PGV detection rates.

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.