Peter D. Galer

The paper analyzes 11,125 trio exomes to explore the relationship between genetic variants and phenotypic features in neurodevelopmental disorders, finding significant clinical similarities and phenotypic gradients.

This study identifies clinical features preceding genetic epilepsy diagnosis in EMR data from 32,000 individuals, showing early signs can inform earlier treatment.

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

This study analyzes 52,143 individuals to characterize paediatric speech and language disorders, identifying genetic associations and clinical patterns.

The paper introduces a phenotype embedding technique using 53 million patient notes to enhance representation learning, showing improved phenotypic similarity and alignment with domain experts.

This paper analyzes the clinical and genetic landscape of FIRES and RSE, finding 36% of RSE patients have genetic causes, while FIRES remains largely undiagnosed.

This study shows that loss of Grin2a causes delayed electrophysiological maturation of hippocampal parvalbumin interneurons, leading to transient seizure susceptibility in mice.