Shagana Visuvanathan

The paper identifies a novel TUBB mutation linked to both ciliopathy and tubulinopathy brain features, showing it impairs ciliogenesis by altering microtubule dynamics.

This paper introduces a knock-in mouse model of ATR-X syndrome carrying a common patient mutation, showing craniofacial defects, microcephaly, and impaired neurological function.

This paper describes a CRISPR/Cas9-based method to create a mouse model with a tandem duplication of Irak1 and Mecp2, which exhibits MDS-like neurological and immune phenotypes.