Elise Brimble

The patient-specific mouse model with Foxg1 frameshift mutation provides insights into the pathophysiology of FOXG1 syndrome

This study creates a patient-specific mouse model with a Foxg1 frameshift mutation to investigate FOXG1 syndrome, revealing cellular and behavioral phenotypes and the role of the mutant protein fragment.

Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility

This study shows autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility, with potential therapeutic benefits from serotonin signaling modulation.

Convergence of autism proteins at the cilium

The paper shows autism genes converge at cilia, linking them to ciliary dysfunction and co-occurring conditions.

Delineating clinical and developmental outcomes in STXBP1-related disorders

This study outlines the longitudinal epilepsy and developmental trajectories in STXBP1-related disorders using clinical and standardized assessments, revealing subgroup differences and informing future therapeutic strategies.

Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readiness

The paper computes longitudinal phenotypes in 466 individuals with developmental and epileptic encephalopathies to improve clinical trial readiness using electronic health records.