Lauren V. Collen

The paper generates intestinal organoids from pediatric IBD patients and controls to study epithelial phenotypes linked to genetic drivers of the disease, identifying gene expression patterns and pathways associated with inflammation.

This study examines how different TTC7A missense mutations in pediatric IBD patients lead to distinct intestinal epithelial phenotypes.

The paper evaluates a deep learning model's performance in predicting pathogenicity of missense variants in a rare disease cohort and identifies limitations in its accuracy for intrinsically disordered regions.