Stephen B. Ellis

GUIA: a digital platform to facilitate result disclosure in genetic counseling

GUIA is a web-based platform designed to improve the delivery of genomic results to patients and families, showing positive feedback from pilot users.

Rapid response to the Alpha-1 Adrenergic Agent Phenylephrine in the Perioperative Period is Impacted by Genomics and Ancestry

This study identifies genetic factors influencing blood pressure response to phenylephrine in perioperative settings, revealing population-specific differences and rare variants associated with non-response.

Multi-ancestry Genome- and Phenome-wide Association Studies of Diverticular Disease in Electronic Health Records with Natural Language Processing enriched phenotype algorithm

This study uses NLP to identify diverticular disease from EHRs and performs GWAS and PheWAS across multiple ancestries to find genetic risk variants and clinical associations.

Augmented Intelligence with Natural Language Processing Applied to Electronic Health Records is Useful for Identifying Patients with Non-Alcoholic Fatty Liver Disease at Risk for Disease Progression

This study shows that natural language processing applied to electronic health records can accurately identify patients with non-alcoholic fatty liver disease and detect those at risk for disease progression.