Shruti Sinha

This study identifies FBXO22 deficiency as a cause of a pleiotropic syndrome with growth restriction and neurodevelopmental delay, linked to an epigenetic signature involving histone demethylase KDM4B.

The paper develops a PCR/Nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis with high accuracy and scalability.

The paper shows that the 4q-D4Z4 chromatin architecture regulates muscle atrophy gene transcription in FSHD by altering 3D nuclear contacts and chromatin states.