Area of research
Genetics · Cognitive Neuroscience
Research interest
Research interests include Genomics and Rare Diseases, Autism Spectrum Disorder Research, Genomic variations and chromosomal abnormalities, and Genetics and Neurodevelopmental Disorders.
Time trends in the male to female ratio for autism incidence: population based, prospectively collected, birth cohort study
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Examining Sex Differences in Autism Heritability
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders
Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p
Single-cell epigenomics reveals mechanisms of human cortical development
Recent ultra-rare inherited variants implicate new autism candidate risk genes
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Rare and de novo coding variants in chromodomain genes in Chiari I malformation
Recent ultra-rare inherited mutations identify novel autism candidate risk genes
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders
Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes
The autism spectrum phenotype in ADNP syndrome
The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Genomic Patterns of De Novo Mutation in Simplex Autism
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency
Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk
De novo genic mutations among a Chinese autism spectrum disorder cohort
denovo-db: a compendium of human<i>de novo</i>variants
Molecular subtyping and improved treatment of neurodevelopmental disease