Tess Levy

This paper identifies 35 genome-wide significant ASD risk genes in admixed Latin American populations, showing consistency with European cohorts and supporting the universality of ASD biology.

This study examines the transient blood transcriptomic changes in children with ADNP syndrome following ketamine treatment, revealing acute immune-related gene expression alterations that revert to baseline within a week.

The paper reviews phenotype reporting in genetic disorders and proposes guidelines to improve clinical relevance.

The paper compares clinical phenotypes of CHAMP1 mutations and deletions, finding mutations cause more severe symptoms through dominant negative or gain of function mechanisms, while deletions act via haploinsufficiency.

This study identifies molecular differences between PMS patients with small and large deletions, showing reduced cytotoxic cell signatures and sphingolipid metabolism in large deletions.

The paper identifies two methylation-based episignatures in ADNP syndrome but finds limited correlation with clinical phenotypes.