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  1. Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.

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  2. Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.

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  3. Insufficient evidence for “autism-specific” genes.

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  4. Incorporating social media into your support tool box: Points to consider from genetics-based communities.

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  5. Autism spectrum disorder, developmental and psychiatric features in 16p11.2 duplication.

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  6. Clinical phenotype of the recurrent 1q21.1 copy-number variant.

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  7. Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci.

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  8. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.

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  9. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

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

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  11. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.

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  12. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.

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  13. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait.

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  14. Using large clinical datasets to infer pathogenicity for rare copy number variants in autism cohorts.

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  15. Common genetic variants, acting additively, are a major source of risk for autism.

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  16. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

    Publication

  17. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

    Publication

  18. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

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