Pamela E. Ventola

The paper constructs an enhancer-driven gene regulatory network from human forebrain organoids with ASD and neurotypical controls, identifying key regulators of excitatory neuron specification in macrocephalic ASD.

This study tracks the clinical progression of NGLY1 Deficiency in 29 patients over 32 months, identifying key symptoms and biomarkers for future trial endpoints.

The paper models ASD in organoids and finds transcriptomic imbalances in excitatory cortical neuron subtypes during early neurogenesis in ASD probands.

This paper introduces BrainGNN, a graph neural network for fMRI analysis that identifies salient brain regions and outperforms existing methods in ASD and HCP datasets.