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  1. Human-specific gene expansions contribute to brain evolution.

    Publication

  2. Human-specific gene expansions contribute to brain evolution.

    Publication

  3. Proteome-wide assessment of clustering of missense variants in neurodevelopmental disorders versus cancer.

    Publication

  4. HAT: de novo variant calling for highly accurate short-read and long-read sequencing data.

    Publication

  5. HAT: de novo variant calling for highly accurate short-read and long-read sequencing data.

    Publication

  6. Can the "female protective effect" liability threshold model explain sex differences in autism spectrum disorder?

    Publication

  7. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

    Publication

  8. De novo variant calling identifies cancer mutation profiles in the 1000 Genomes Project.

    Publication

  9. Single-cell epigenomics reveals mechanisms of human cortical development.

    Publication

  10. Genetic counseling as preventive intervention: Toward individual specification of transgenerational autism risk.

    Publication

  11. Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity.

    Publication

  12. Recent ultra-rare inherited variants implicate new autism candidate risk genes.

    Publication

  13. Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.

    Publication

  14. Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans.

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  15. Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes.

    Publication

  16. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

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  17. Recurrent de novo mutations in neurodevelopmental disorders: Properties and clinical implications.

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  18. Genomic patterns of de novo mutation in simplex autism.

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  19. Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.

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  20. Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

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  21. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

    Publication

  22. Denovo-db: A compendium of human de novo variants.

    Publication

  23. De novo genic mutations among a Chinese autism spectrum disorder cohort.

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  24. Molecular subtyping and improved treatment of neurodevelopmental disease.

    Publication

  25. Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA.

    Publication

  26. Loss of delta-catenin function in severe autism.

    Publication