Ronald van Beek

The paper uses optical genome mapping and long-read sequencing to resolve complex rearrangements at nucleotide resolution, revealing additional complexity and enabling accurate genotype-phenotype correlations.

This study uses optical genome mapping to identify de novo and rare inherited structural variants in 57 patient-parent trios, finding 13 de novo SVs and 11 rare inherited SVs, some of which are pathogenic or candidate disease-causing.

The paper identifies monoallelic PSMB8 variants causing impaired immunoproteasome assembly and a novel PRAAS subtype with immunodeficiency.

This study evaluates optical genome mapping (OGM) for detecting STR repeat expansions and somatic instability, showing high accuracy and efficiency compared to current methods.

This study evaluates high-resolution optical mapping for detecting chromosomal aberrations in 85 samples, achieving 100% concordance with standard tests for non-centromeric breakpoints.

This study assesses genome imaging in 48 leukemia cases, showing it can detect complex structural variants and chromosomal aberrations with high accuracy, potentially replacing traditional cytogenetic methods.