A. Muir

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features

Clinical cohort findings that rare monoallelic LoF variants in ZNF536 underlie a genetic neurodevelopmental disorder characterized by developmental delay, autism, and behavioral dysregulation support a role for ZNF536 as a dosage-sensitive regulator of cortical development.

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.

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.