Alison M. Muir

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

TRIM28 missense variants in individuals with neurodevelopmental delay disrupt epigenetic control of transposable elements, leading to altered gene expression and neurodevelopmental defects.

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.