Xinyi Xu

Common risk variants identified in autism spectrum disorder

This study identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

Integrative analysis of rare variants and pathway information shows convergent results between immune pathways, drug targets and epilepsy genes

The paper introduces a Bayesian framework to prioritize risk genes for complex diseases by integrating gene-set information with variant counts, identifying novel epilepsy risk genes and linking them to immune pathways and drug targets.

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

The paper uses Bayesian modeling to analyze rare exonic variants in schizophrenia and neurodevelopmental disorders, identifying 1,551 risk genes for schizophrenia and 98 new risk genes for developmental disorders.