Kshitij Mankad

The paper shows that prematurity disrupts cerebellar development by altering developmental trajectories and causing lineage-specific asynchrony in cell maturation.

This study identifies RUBCN variants in neurodevelopmental disorders and shows they cause autophagy overdrive, leading to neurodegeneration.

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

This study identifies SLITRK3 mutations in humans linked to epileptic encephalopathy and shows their loss-of-function effect in neurons and mice, highlighting a role in synapse development and neurological function.

This study demonstrates that clinical metagenomics improves diagnostic outcomes for undiagnosed complex paediatric neurological cases, particularly in immunocompromised patients.