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Showing 1–9 of 9 results
Advanced filters: Author: Annette Estes Clear advanced filters

  • Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by impairments in social and communication skills. Accumulating evidence suggests a genetic component to ASDs, and here a two-stage, genome-wide approach is used to identify candidate genomic loci enriched in ASD cases. The majority of these loci are found to be involved in neuronal adhesion and ubiquitin degradation, suggesting novel susceptibility mechanisms.

    • Joseph T. Glessner
    • Kai Wang
    • Hakon Hakonarson
    Research
    Nature
    Volume: 459, P: 569-573

  • Although structural variation has been previously associated with autism spectrum disorders, this study reports a genome-wide significant association of common variants with susceptibility to this disorder group. The results implicate neuronal cell-adhesion molecules in the pathogenesis of this group of neurodevelopmental and neuropsychiatric disorders.

    • Kai Wang
    • Haitao Zhang
    • Hakon Hakonarson
    Research
    Nature
    Volume: 459, P: 528-533

  • The autistic spectrum disorders (ASDs) are highly heritable, yet the underlying genetic determinants remain largely unknown. Here, a genome-wide analysis of rare copy number variants (CNVs) has been carried out, revealing that ASD sufferers carry a higher load of rare, genic CNVs than do controls. Many of these CNVs are de novo and inherited. The results implicate several novel genes in ASDs, and point to the importance of cellular proliferation, projection and motility, as well as specific signalling pathways, in these disorders.

    • Dalila Pinto
    • Alistair T. Pagnamenta
    • Catalina Betancur
    Research
    Nature
    Volume: 466, P: 368-372

  • Yuen et al. developed a cloud-based database with 5,205 whole genomes from families with autism spectrum disorder (ASD). They identified 18 new candidate ASD-risk genes and approximately 100 risk genes and copy-number loci, which account for 11% of the cases. They also found that individuals bearing mutations in ASD-risk genes had lower adaptive ability.

    • Ryan K C Yuen
    • Daniele Merico
    • Stephen W Scherer
    Research
    Nature Neuroscience
    Volume: 20, P: 602-611

  • Autism is a highly heritable neurodevelopmental disorder, and yet few specific susceptibility genes have been identified to date. A linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms is now described in a common set of 1,031 multiplex autism families. The linkage regions identified provide targets for rare variation screening whereas the discovery of a single novel association, SEMA5A, demonstrates the action of common variants.

    • Lauren A. Weiss
    • Dan E. Arking
    • Leena Peltonen
    Research
    Nature
    Volume: 461, P: 802-808