Rebekah Jobling

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

GeneTerpret streamlines genomic variant interpretation by integrating multiple data sources and ACMG criteria to prioritize potentially causal variants for a given genome and phenotype.

The paper identifies clinically relevant genetic variants in TOF patients and constructs a protein interaction network linking these variants to disease mechanisms.

This paper identifies ultra-rare variants in NOTCH1 and FLT4 associated with tetralogy of Fallot using burden analysis of genome sequences from 231 individuals.