Hanka Venselaar

This study shows that artificial selection in canaries leads to polygenic changes across sensory and motor systems, affecting song diversity and auditory traits.

This study uses AlphaFold2 to predict viable hybrid domains from exon skipping combinations in USH2A, expanding therapeutic options for Usher syndrome.

The paper identifies function-altering de novo mutations in neurodevelopmental disorders by analyzing mutational hotspots across homologous protein domains.

The paper identifies six rare de novo missense variants in WDR5 associated with neurodevelopmental disorders and highlights their impact on COMPASS family protein interactions.

The paper shows inherited CHD3 variants cause Snijders Blok-Campeau syndrome with variable expressivity, overlapping with de novo variants' phenotypes, and suggests reduced penetrance is not due to expression compensation.

This study demonstrates that QR-421a induces exon 13 skipping in USH2A transcripts, restoring retinal function in zebrafish and non-human primates.