Area of research
Genetics · Psychiatry and Mental health
Research interest
Research focused on Epilepsy and Genome-wide association study, with related work in Mutation, Compound heterozygosity, Missense mutation. Notable publications include 'Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia', 'Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy', and 'Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up'.
Modifier genes in <i>SCN1A</i>‐related epilepsy syndromes
Mosaicism of de novo pathogenic <i><scp>SCN</scp>1A</i> variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes
Recessive mutations in<i>SLC13A5</i>result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides
Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up