Francisco Barros-Angueira

De novo missense variants in TRIM28 identified in individuals with neurodevelopmental delay show features of transposable element activation

This study describes two patients with neurodevelopmental delay who carry de novo TRIM28 missense variants and demonstrates that these variants result in the loss of the histone mark H3K9me3 over TEs, establishing a link between TRIM28 variants and neurodevelopmental delay.