Lara A. Menzies

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

This paper uses automated behavioural tracking in C. elegans to phenotype 25 disease models, revealing both strong and subtle mutant effects that could aid drug repurposing.

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.