Amelle Shillington

Selective vulnerability of excitatory cortical neurons to ZMYND11 loss reveals cell-type-specific mechanisms of neurodevelopmental disorder risk

The paper shows that ZMYND11 loss selectively affects excitatory cortical neurons, causing hyperexcitability and molecular changes, while inhibitory neurons are less affected, revealing cell-type-specific mechanisms in neurodevelopmental disorders.

ZMYND11 Functions in Bimodal Regulation of Latent Genes and Brain-like Splicing to Safeguard Corticogenesis

This study investigates the role of ZMYND11 in neurodevelopment by analyzing its effects on cortical neural stem cells and splicing regulation in ASD risk factors.

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder

This study shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.

Adaptor protein 2 sigma subunit (AP2S1) variants associated with neurodevelopmental disorders

The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.