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Showing 1–7 of 7 results
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  • The autism spectrum disorders are complex genetic traits characterized by various neurodevelopmental deficits. Here, the authors analyse defective gene family interaction networks in autism cases and healthy controls and identify potential gene family interactions that may contribute to autism aetiology.

    • Dexter Hadley
    • Zhi-liang Wu
    • Hakon Hakonarson
    ResearchOpen Access
    Nature Communications
    Volume: 5, P: 1-10

  • Better analytical methods are needed to extract biological meaning from genome-wide association studies (GWAS) of psychiatric disorders. Here the authors take GWAS data from over 60,000 subjects, including patients with schizophrenia, bipolar disorder and major depression, and identify common etiological pathways shared amongst them.

    • Colm O'Dushlaine
    • Lizzy Rossin
    • Gerome Breen
    Research
    Nature Neuroscience
    Volume: 18, P: 199-209

  • Elise Robinson and colleagues present the polygenic transmission disequilibrium test (pTDT) for evaluating transmission of polygenic risk in family-based study designs. The authors apply pTDT to a cohort of autism spectrum disorder (ASD) families and find that common polygenic variation acts additively with de novo variants to contribute to ASD risk.

    • Daniel J Weiner
    • Emilie M Wigdor
    • Elise B Robinson
    Research
    Nature Genetics
    Volume: 49, P: 978-985

  • Naomi Wray and colleagues report an analysis of genome-wide association data sets from the Psychiatric Genomics Consortium for five psychiatric disorders. They find that common variation explains 17–29% of the variance in liability and provide further support for a shared genetic etiology for these related psychiatric disorders.

    • S Hong Lee
    • Stephan Ripke
    • Naomi R Wray
    Research
    Nature Genetics
    Volume: 45, P: 984-994

  • Jan Veldink and colleagues show that loss-of-function variants in NEK1 are associated with susceptibility to amyotrophic lateral sclerosis (ALS). In addition to finding an excess of rare loss-of-function NEK1 variants in ALS cases, they report a significant association between a specific NEK1 missense variant (p.Arg261His) and disease risk.

    • Kevin P Kenna
    • Perry T C van Doormaal
    • John E Landers
    Research
    Nature Genetics
    Volume: 48, P: 1037-1042