Area of research
Genetics · Cognitive Neuroscience
Research interest
Research interests include Autism Spectrum Disorder Research, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, and Genomics and Rare Diseases.
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
<i>ANK2</i> loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks
Genomic architecture of autism from comprehensive whole-genome sequence annotation
<i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
Delineation of a novel neurodevelopmental syndrome associated with <i>PAX5</i> haploinsufficiency
Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications
A framework for an evidence-based gene list relevant to autism spectrum disorder
A large data resource of genomic copy number variation across neurodevelopmental disorders
Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Genome-wide characteristics of de novo mutations in autism
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
Individual common variants exert weak effects on the risk for autism spectrum disorders