Area of research
Genetics · Cognitive Neuroscience
Research interest
Research interests include Autism Spectrum Disorder Research, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, and Genetics and Neurodevelopmental Disorders.
Deleterious coding variation associated with autism is shared across ancestries
Predicting expression-altering promoter mutations with deep learning
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex
Intrauterine exposure to hyperglycemia retards the development of brown adipose tissue
Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
De Novo Coding Variants Are Strongly Associated with Tourette Disorder
Whole genome sequencing in psychiatric disorders: the WGSPD consortium
Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
The female protective effect in autism spectrum disorder is not mediated by a single genetic locus
The contribution of de novo coding mutations to autism spectrum disorder
De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
Altered thyroid hormone profile in offspring after exposure to high estradiol environment during the first trimester of pregnancy: a cross-sectional study
Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism
Cometabolism of CAHs while Growing on BTEX in Soil Slurry