Eric James Mallack

The paper evaluates disease outcomes in boys with ABCD1 variants detected via newborn screening for ALD, finding that VUS variants are associated with lower rates of adrenal insufficiency and lower C26:0-LPC levels compared to pathogenic variants.

This study identifies SLITRK3 mutations in humans linked to epileptic encephalopathy and shows their loss-of-function effect in neurons and mice, highlighting a role in synapse development and neurological function.