David Lewis‐Smith

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders

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.

Clinical signatures of genetic epilepsy precede diagnosis in electronic medical records of 32,000 individuals

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

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants

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.

Enriching Representation Learning Using 53 Million Patient Notes through Human Phenotype Ontology Embedding

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.

Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy

The paper demonstrates an in vitro human brain model to study STXBP1 haploinsufficiency's effects on synaptic connectivity and cortical development.