Pushpanathan Muthuirulan

The paper investigates regulatory interactions at the GDF5 locus, showing that epistasis between variants, rather than individual variants, influences disease risk and joint morphology.

The paper generates human articular and growth plate chondrocytes from stem cells, maps their regulatory networks, and identifies lineage-specific transcription factors.

This paper identifies intronic regulatory elements of ACE2 that respond to immune signaling and oxidative stress, influencing ACE2 expression and viral susceptibility.