Anke Van Dijck

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

This study identifies the ADNP-KDM1A-GTF2I complex as critical for neural differentiation balance in HVDAS by repressing transposable elements and regulating gene transcription.

The paper examines how assortative mating and parental genetic relatedness influence the pathogenicity of variably expressive variants in neurodevelopmental disorders.

The paper quantifies ADNP mutation mosaicism across tissues in a post-mortem autistic individual, showing post-zygotic, tissue-specific mutation patterns and ruling out environmental factors.

The paper shows that rare secondary mutations in functionally intolerant genes affect the expressivity of neurodevelopmental disorders in individuals with primary mutations.