Julie S. Cohen

This study surveys non-genetics departments to assess genetic counselor availability, utilization, and perceived need for neurodevelopmental disorder patients, finding limited integration but high interest in expanding genetic counseling support.

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 de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

The paper evaluates the clinical impact of genetic findings in cerebral palsy, finding 8% of cases have actionable genetic diagnoses with moderate-high clinical utility.

This paper reviews US professional society guidelines for genetic testing in neurodevelopmental disorders and highlights the need for unified, updated, and accessible cross-specialty guidelines.