Bregje W.M. van Bon

The paper identifies distinct mechanisms of CNV formation at the human 15q13.3 locus, showing that non-allelic homologous recombination is the primary mechanism, influenced by inversion polymorphisms and population-specific susceptibility.

PhenomAD-NDD aggregates comorbid phenotypic data from 51,227 pediatric NDD individuals to identify enriched symptoms and improve clinical understanding.

PhenoScore quantifies phenotypic similarity using AI and HPO data to improve genetic variant interpretation and genotype-phenotype studies.

The paper investigates SETBP1 variants outside the degron, showing they cause a heterogeneous neurodevelopmental disorder through loss-of-function mechanisms independent of protein abundance.