Area of research
Genetics · Cognitive Neuroscience
Research interest
Research interests include Genetic Associations and Epidemiology, Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, and Genomics and Rare Diseases.
Identification of common genetic risk variants for autism spectrum disorder
Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
Common risk variants identified in autism spectrum disorder
Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
Synaptic, transcriptional and chromatin genes disrupted in autism
A framework for the interpretation of de novo mutation in human disease
A Genome Wide Association Study of Mathematical Ability Reveals an Association at Chromosome 3q29, a Locus Associated with Autism and Learning Difficulties: A Preliminary Study
Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders
Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder
Common variant at 16p11.2 conferring risk of psychosis