Jiawan Sun

This study shows that RBM8A is essential for bone development and Hedgehog signaling, with its deficiency causing skeletal defects and impaired endochondral ossification.

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 examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

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.