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  1. Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.

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  2. Excess of rare, inherited truncating mutations in autism.

    Publication

  3. Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism."

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  4. Epigenetics of autism-related impairment: Copy number variation and maternal infection.

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  5. The discovery of integrated gene networks for autism and related disorders.

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  6. Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

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  7. The contribution of de novo coding mutations to autism spectrum disorder.

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  8. De novo TBR1 mutations in sporadic autism disrupt protein functions.

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  9. The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

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  10. Disruptive CHD8 mutations define a subtype of autism early in development.

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  11. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

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  12. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.

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  13. A genotype-first approach to defining the subtypes of a complex disease.

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  14. A de novo convergence of autism genetics and molecular neuroscience.

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  15. Rare-variant extensions of the transmission disequilibrium test: Application to autism exome sequence data.

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  16. Transmission disequilibrium of small CNVs in simplex autism.

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  17. Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

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  18. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

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  19. Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

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  20. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

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  21. Relative burden of large CNVs on a range of neurodevelopmental phenotypes.

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  22. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

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  23. De novo rates and selection of large copy number variation.

    Publication

  24. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

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