Seth D. Friedman

This paper develops a multi-scale machine learning model to predict muscle and functional disease progression in FSHD using MRI and clinical data, achieving strong predictive performance in holdout datasets.

The paper validates the association between MRI characteristics and gene signatures in FSHD muscle, supporting their use as biomarkers for clinical trial design.

The paper uses ddPCR to analyze PI3K-AKT-MTOR mutations in pediatric epilepsy cases, finding associations between specific mutations and clinical phenotypes.