Area of research
Biotechnology · Molecular Biology
Research interest
Research focused on RNA interference and Genetics, with related work in GABAergic, Cancer therapy, Cancer. Notable publications include 'Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy', 'Enhanced bacterial cancer therapy delivering therapeutic RNA interference of c-Myc', and 'Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping'.
A synonymous SLC2A1 variant causes familial epilepsy and paroxysmal exercise-induced dyskinesia by creating aberrant mosaic splicing patterns
Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.
Pathogenic ultra-rare variants in <i>SLC6A1, SLC6A11, GAD1 and GAD2</i> are new & recurrent GABAergic loci for GGE syndromes
A synonymous <i>SLC2A1</i> variant causes familial epilepsy and paroxysmal exercise-induced dyskinesia by creating aberrant mosaic splicing patterns
Pathogenic Ultra-Rare Variants in SLC6A1, SLC6A11, GAD1 and GAD2 are New &amp; Recurrent GABAergic Loci for Genetic Generalised Epilepsy
Enhanced bacterial cancer therapy delivering therapeutic RNA interference of c-Myc
Enhanced bacterial cancer therapy delivering therapeutic RNA interference of c-Myc, a key driver of tumourigenesis.
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy