Area of research
Genetics · Psychiatry and Mental health
Research interest
Research interests include Genomics and Rare Diseases, Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, and Genomic variations and chromosomal abnormalities.
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals
Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function Variants
Early neurological symptoms and epilepsy outcomes in individuals with the recurrent <scp> <i>GABRG2</i> </scp> p.( <scp>Ala106Thr</scp> ) gain‐of‐function variant: Structural and phenotypic insights
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in <i>PIGT</i>
<i>SLC25A22</i>is a novel gene for migrating partial seizures in infancy