Carina G Biar

The paper introduces LAMPRAs to measure how cis-regulatory element composition affects gene expression using synthetic loci.

The paper identifies a regulatory region in 14q12 that affects FOXG1 expression and contributes to neurodevelopmental disorders through noncoding structural variants.

Abundance scores for 8,891 TSC2 missense variants, plus mTOR pathway activity scores for 391, were calibrated to ACMG/AMP evidence. They putatively reclassify 212 of 276 clinical-cohort missense VUS.

EpiPred improves STXBP1 variant interpretation, enabling precision genetic diagnoses and promoting access to targeted precision therapies.

This study shows plasmids can form chromatin structures in mammalian cells and uses plasmid Fiber-seq to map these structures and their functional consequences.

The paper develops TRUST, a machine learning model to predict pathogenicity of TSC2 missense variants, validated by functional assays, and provides a framework for VUS resolution.

The paper investigates how SCN1A variants in a poison exon cause aberrant splicing, reduced Nav1.1 protein, and epilepsy through RBP interactions.