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.
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery
<i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Development and validation of a predictive model of drug-resistant genetic generalized epilepsy
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia
Autism and developmental disability caused by <i>KCNQ3</i> gain‐of‐function variants
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Somatic <i>SLC35A2</i> variants in the brain are associated with intractable neocortical epilepsy
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia
Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature
<i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients
Time from convulsive status epilepticus onset to anticonvulsant administration in children
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
<i>SLC25A22</i>is a novel gene for migrating partial seizures in infancy
Gaps and opportunities in refractory status epilepticus research in children: A multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG)
Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
Exome Sequencing Followed by Large-Scale Genotyping Suggests a Limited Role for Moderately Rare Risk Factors of Strong Effect in Schizophrenia