Area of research
Genetics · Psychiatry and Mental health
Research interest
Research interests include Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Epilepsy research and treatment, and Metabolism and Genetic Disorders.
Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsy
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Hermes (Rbpms) is a Critical Component of RNP Complexes that Sequester Germline RNAs during Oogenesis
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>
Earlier treatment of NMDAR antibody encephalitis in children results in a better outcome
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Protection Against Malaria by Intravenous Immunization with a Nonreplicating Sporozoite Vaccine
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood