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

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Items 101–173 of 173

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7. Networks of Neuronal Genes Affected by Common and Rare Variants in Autism Spectrum Disorders
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8. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families
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11. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
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12. Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder
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13. Understanding sex bias in autism spectrum disorder
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14. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism
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15. Integrated systems analysis reveals a molecular network underlying autism spectrum disorders
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17. 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages
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18. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
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19. The female protective effect against autism spectrum disorder
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23. Transmission Disequilibrium of Small CNVs in Simplex Autism
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24. Frequency and complexity of de novo structural mutation in autism
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25. Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature
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26. The role of cerebellar circuitry alterations in the pathophysiology of autism spectrum disorders
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27. Genetic contributions to behavioural diversity at the gene-environment interface
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28. Measuring and estimating the effect sizes of copy number variants on general intelligence in community-based samples
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32. 16p11.2 deletion syndrome mice display sensory and ultrasonic vocalization deficits during social interactions
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34. Dosage analysis of the 7q11.23 Williams region identifies <i>BAZ1B</i> as a major human gene patterning the modern human face and underlying self-domestication
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35. Rare autosomal copy number variations in early-onset familial Alzheimer’s disease
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36. De Novo Rates and Selection of Schizophrenia-Associated Copy Number Variants
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37. Intestinal Barrier Dysfunction and Microbiota–Gut–Brain Axis: Possible Implications in the Pathogenesis and Treatment of Autism Spectrum Disorder
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38. A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants
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41. Behavioral signatures related to genetic disorders in autism
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44. Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub
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