De Novo Gene Disruptions in Children on the Autistic Spectrum

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Items 101–175 of 175

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4. iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth
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6. Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder
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7. Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases
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8. The Emerging Biology of Autism Spectrum Disorders
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9. Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
   Uddin, Mohammed, Tammimies, Kristiina, Pellecchia, Giovanna, Alipanahi, Babak, Hu, Pingzhao, Wang, Zhuozhi, Pinto, Dalila, Lau, Lynette, Nalpathamkalam, Thomas, Marshall, Christian R et al. · 2014 · Nature Genetics
10. Recessive gene disruptions in autism spectrum disorder
    Autism Sequencing Consortium, Doan, Ryan N., Lim, Elaine T., De Rubeis, Silvia, Betancur, Catalina, Cutler, David J., Chiocchetti, Andreas G., Overman, Lynne M., Soucy, Aubrie, Goetze, Susanne et al. · 2019 · Nature Genetics
11. Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism
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13. Neocortical neurogenesis and the etiology of autism spectrum disorder
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15. 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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16. Prioritization of neurodevelopmental disease genes by discovery of new mutations
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17. Autism-Associated Promoter Variant in MET Impacts Functional and Structural Brain Networks
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18. An assessment of sex bias in neurodevelopmental disorders
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19. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families
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21. Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder
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22. Syngap1 Haploinsufficiency Damages a Postnatal Critical Period of Pyramidal Cell Structural Maturation Linked to Cortical Circuit Assembly
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23. Understanding sex bias in autism spectrum disorder
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24. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism
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25. SNAREopathies: Diversity in Mechanisms and Symptoms
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26. Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls
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28. Whole-genome analyses of whole-brain data: working within an expanded search space
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29. Epigenetics of Autism Spectrum Disorder
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31. Risk of psychiatric illness from advanced paternal age is not predominantly from de novo mutations
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32. Comprehensive analysis of the 16p11.2 deletion and null Cntnap2 mouse models of autism spectrum disorder
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33. A twin study of heritable and shared environmental contributions to autism
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34. A randomized, double-blind, placebo-controlled trial of low-dose sertraline in young children with fragile X syndrome
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36. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
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37. De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease
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39. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
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42. Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology
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43. Intellectual disability is associated with increased runs of homozygosity in simplex autism
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