Erica D. Smith

The paper develops iPSC-SGE to assess variant effects in diverse genetic and cell contexts, identifying pathogenic variants and essential disease genes.

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

This paper compares traditional and chatbot-based consent processes for genomics research, finding shorter consent times and positive participant feedback with the chatbot.

The paper models gene expression networks to predict interchromosomal organization during human embryonic stem cell differentiation and finds that coordinate gene regulation correlates with 3D chromosome organization.