Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research focused on Epilepsy and Genetics, with related work in Genome-wide association study, Hippocampal sclerosis, Neurodegeneration. Notable publications include 'Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies', 'Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A', and 'Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32'.
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Mitochondrial Liver Toxicity of Valproic Acid and Its Acid Derivatives Is Related to Inhibition of α-Lipoamide Dehydrogenase
Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies
Loss of UCP2 Attenuates Mitochondrial Dysfunction without Altering ROS Production and Uncoupling Activity
Oxyphil Cell Metaplasia in the Parathyroids Is Characterized by Somatic Mitochondrial DNA Mutations in NADH Dehydrogenase Genes and Cytochrome c Oxidase Activity–Impairing Genes
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
Rare exonic deletions of the <scp><i>RBFOX1</i></scp> gene increase risk of idiopathic generalized epilepsy
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
Primary Skin Fibroblasts as a Model of Parkinson's Disease
Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion
Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP
Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies