Harry P. Kozakewich

The paper identifies a novel de novo GABPA variant in a patient with unclassified vascular tumors, linking it to disrupted vascular development through structural and functional analyses.

This study identifies fibroadipogenic progenitor cells as non-cell-autonomous regulators of muscle overgrowth in Beckwith-Wiedemann syndrome.

This study identifies skeletal muscle hypertrophy as the mechanism behind tongue overgrowth in Beckwith-Wiedemann syndrome, revealing subtype-specific myogenic regulatory programs.

The paper identifies a SOX18-mevalonate pathway axis in infantile hemangioma and suggests repurposing statins as a treatment.

The paper compares morphological features of GNAQ p.R183Q-driven capillary malformations in brain and skin tissues to understand their pathogenesis and guide targeted therapies.