Advanced search

Filter By:

Journal Check one or more journals to show results from those journals only.

Choose more journals

Article type Check one or more article types to show results from those article types only.
Subject Check one or more subjects to show results from those subjects only.
Date Choose a date option to show results from those dates only.

Custom date range

Clear all filters
Sort by:
Showing 1–11 of 11 results
Advanced filters: Author: Pat Walsh Clear advanced filters

  • The genetics of schizophrenia and other mental disorders are complex and poorly understood, and made even harder to study due to reduced reproduction resulting in negative selection pressure on risk alleles. Two independent large-scale genome wide studies of thousands of patients and controls by two international consortia confirm a previously identified locus, but also reveal novel associations. In this study, deletions were reported on chromosomes 1 and 15, as well as a greater overall frequency of copy number variation in the genome.

    • Jennifer L. Stone
    • Michael C. O’Donovan
    • Pamela Sklar
    Research
    Nature
    Volume: 455, P: 237-241

  • Immune lymphocyte estimation from nucleotide sequencing (ImmuneLENS) infers B cell and T cell fractions from whole-genome sequencing data. Applied to the 100,000 Genomes Project datasets, circulating T cell fraction provides sex-dependent and prognostic insights in patients.

    • Robert Bentham
    • Thomas P. Jones
    • Nicholas McGranahan
    ResearchOpen Access
    Nature Genetics
    Volume: 57, P: 694-705

  • Biomarkers for autism may reveal causes of the condition and could be used to improve diagnosis and enable earlier detection of autism spectrum disorders. Walsh and colleagues discuss the major scientific challenges in the search for autism biomarkers and consider a number of important social and ethical concerns arising from biomarker development and application.

    • Pat Walsh
    • Mayada Elsabbagh
    • Ilina Singh
    Comments & Opinion
    Nature Reviews Neuroscience
    Volume: 12, P: 603-612

  • The NMR structure of the Notch binding region of one of its ligands, Jagged, gives insight into the binding surface. Subsequent in vivo analysis of mutants indicates that the same surface is likely to be active in signaling within cells as well as to different cells, and modeling indicates how this surface might interact to participate in such distinct functions.

    • Jemima Cordle
    • Steven Johnson
    • Penny A Handford
    Research
    Nature Structural & Molecular Biology
    Volume: 15, P: 849-857

  • The Cancer Genome Atlas consortium reports on their genome-wide characterization of somatic alterations in colorectal cancer; in addition to revealing a remarkably consistent pattern of genomic alteration, with 24 genes being significantly mutated, the study identifies new targets for therapeutic intervention and suggests an important role for MYC-directed transcriptional activation and repression.

    • Donna M. Muzny
    • Matthew N. Bainbridge
    • Elizabeth Thomson.
    ResearchOpen Access
    Nature
    Volume: 487, P: 330-337

  • The Schizophrenia Psychiatric Genome-Wide Association Study Consortium reports five genetic loci newly associated with risk of schizophrenia, involving 17,836 cases of schizophrenia and 33,859 healthy controls. The new locus with the strongest support of association was located within an intron for microRNA 137, a known regulator of neuronal development. Four other genome-wide significant loci for schizophrenia contain predicted targets of MIR137, suggesting that disruption to pathways involving MIR137 may be an etiologic mechanism in schizophrenia.

    • Stephan Ripke
    • Alan R Sanders
    • Pablo V Gejman
    Research
    Nature Genetics
    Volume: 43, P: 969-976

  • 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