Isabelle B. Cooperstein

The paper evaluates Pheno+, an EHR-integrated tool for automated phenotyping, finding it has good usability but requires curation to reduce errors and reshape clinical workflows.

This paper introduces SimPheny, a framework that uses patient-to-patient phenotype matching to prioritize genes for rare disease diagnosis, outperforming existing methods in cases with limited phenotype associations.

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

The paper investigates how interactions with apoptotic neurons influence microglial states and survival pathway dependence using scRNAseq in mouse retina.