Ashley P.L. Marsh

The paper maps the functional effects of MUTYH variants using deep mutational scanning and DNA repair reporters, resolving variants of uncertain significance and identifying risk-associated mutations.

This study functionally tests STK11 missense variants in mammalian cells, identifying pathogenic variants and providing insights for clinical interpretation.

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

This study shows that DCC and NTN1 regulate astroglial development and interhemispheric fissure remodeling, essential for corpus callosum and hippocampal commissure formation.