Maitreya Das

The paper quantifies how genetic mutations affect enhancer activity and gene expression using a novel method and identifies TF-specific regulatory programs and enhancer-gene relationships.

The paper develops a framework to study variable expressivity in genetic disorders using 16p12.1 deletion models, showing how genetic background and secondary variants influence gene expression and phenotypes.

This paper identifies critical steps and QC checkpoints for reproducibility of STARR-seq assays and provides guidelines for experimental design and analysis pipelines.

The paper investigates how gene expression changes from a 16p12.1 deletion and second-hit variants contribute to phenotypic variability in developmental delay.