Scott Randall Plotkin

This study shows that antisense gene therapy using PMOs can induce exon 11 skipping in NF2-deficient Schwann cells, partially restoring merlin function and key pathways in a spheroid model of NF2-SWN.

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

This study shows that combining anti-PD1 treatment with radiation therapy for vestibular schwannomas improves tumor control, reduces radiation dose, and elicits systemic anti-tumor effects.

This study identifies IL-6 and EGFR signaling as therapeutic targets for schwannomatosis, showing combined blockade reduces both pain and tumor growth in preclinical models.

This study examines diagnostic delays and errors in schwannomatosis using medical records, finding long delays and frequent misdiagnoses linked to non-specific symptoms and missed genetic testing opportunities.