Sarah Anne Harris

This paper introduces a physical model called TORCphysics that simulates DNA supercoiling-mediated gene expression regulation using genome architecture inputs.

The paper studies a 358-bp micro-eccDNA from the human Titin gene, showing nucleosomes induce a topological switch between intact and denatured states.

The paper identifies new pathogenic variants in the MMP20 gene associated with autosomal recessive amelogenesis imperfecta and explores their genetic origins across different populations.

The paper identifies new pathogenic GRK1 variants in Oguchi disease and evaluates their impact on protein structure using bioinformatics tools.