Helen Rankin Willsey

This study identifies KCNT1's role in multiciliated cell development in Xenopus and links it to pharmacologically tractable Piezo channels.

The paper identifies CHD genes that disrupt NPC biology and are enriched for ciliary biology, linking cilia dysfunction to ASD and CHD comorbidity.

This study shows autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility, with potential therapeutic benefits from serotonin signaling modulation.

The paper shows autism genes converge at cilia, linking them to ciliary dysfunction and co-occurring conditions.

This study shows that KANSL1 mutations cause ciliary defects in KdVS patients, linking the gene to ciliogenesis and neurodevelopmental features.

The paper represses 87 high-confidence ASD genes in a human cortical neurogenesis model, identifying 17 genes that disrupt developmental trajectory and reveal convergence on microtubule biology and RNA-binding proteins.

The paper constructs a PPI network of 100 high-confidence ASD genes, identifies novel interactions, and uses AlphaFold-Multimer to prioritize variants for functional validation in organoids.

The paper investigates the role of chromatin regulators in autism spectrum disorder (ASD) by examining their involvement in microtubule biology and cellular proliferation, finding that ASD risk genes affect these processes and are enriched among microtubule-associated proteins.

The paper investigates congenital kidney and urinary tract anomalies and genital defects in DYRK1A mutation carriers, showing DYRK1A's role in genitourinary development through Xenopus studies.