Area of research
Genetics · Psychiatry and Mental health
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, and Epilepsy research and treatment.
Psychiatric genetics in the diverse landscape of Latin American populations
Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies
The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications
Gene variant effects across sodium channelopathies predict function and guide precision therapy
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
Analysing an allelic series of rare missense variants of <i>CACNA1I</i> in a Swedish schizophrenia cohort
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region