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Showing 1–8 of 8 results
Advanced filters: Author: Sebastian S. Gerety Clear advanced filters

  • The authors analyzed the whole-exome sequences of over 16,000 individuals and found that very rare variants predicted to disrupt the SETD1A gene confer substantial risk for schizophrenia. Damaging variants in SETD1A were also associated with diverse, severe developmental disorders, providing an important genetic link between schizophrenia and other neurodevelopmental disorders.

    • Tarjinder Singh
    • Mitja I Kurki
    • Jeffrey C Barrett
    Research
    Nature Neuroscience
    Volume: 19, P: 571-577

  • Pathogenic variants of DDX3X are associated with neurodevelopmental disorders (NDD) and cancer. Here, the authors perform saturation genome editing of DDX3X to test the functional impact of 12,776 variants, develop a machine learning classifier to identify variants relevant for NDD, and show that DDX3X predominantly acts as a tumour suppressor in cancer.

    • Elizabeth J. Radford
    • Hong-Kee Tan
    • Matthew E. Hurles
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-17

  • Saturation genome editing characterizes BAP1 variants and their association with disease presentation. A phenome-wide association analysis in the UK finds that BAP1 variants identified as deleterious in the study are associated with higher serum IGF-1 levels.

    • Andrew J. Waters
    • Timothy Brendler-Spaeth
    • David J. Adams
    ResearchOpen Access
    Nature Genetics
    Volume: 56, P: 1434-1445

  • Here, the authors provide an exome study of hand grip strength, a proxy of generalized muscle strength. They identify six exome-wide significant genes, with links to disease, and additivity of rare and common genetic variant effects on muscle strength.

    • Yunfeng Huang
    • Dora Bodnar
    • Heiko Runz
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-8

  • Retrotransposition events have been linked to some human disorders. Here, Gardner et al. systematically search for mobile genetic elements (ME) in trio whole exome-sequencing datasets and ascertain 9 de novo MEs and further estimate genome-wide germline ME burden and constraint.

    • Eugene J. Gardner
    • Elena Prigmore
    • Matthew E. Hurles
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-10

  • Analysis of rare coding variants in the UK Biobank identifies eight genes associated with adult cognitive function, including KDM5B. Rare and common variant signals overlap and contribute additively to the phenotype.

    • Chia-Yen Chen
    • Ruoyu Tian
    • Heiko Runz
    ResearchOpen Access
    Nature Genetics
    Volume: 55, P: 927-938

  • Mutations in ADAMTS19 lead to progressive heart valve disease in humans. Analysis of mice lacking Adamts19 highlights the role of a Wnt–Adamts19–Klf2 axis in proper valve function.

    • Florian Wünnemann
    • Asaf Ta-Shma
    • Gregor Andelfinger
    Research
    Nature Genetics
    Volume: 52, P: 40-47

  • Matthew Hurles, David FitzPatrick and colleagues report the discovery of four novel Mendelian disorders based on their analysis of exome sequence data from 4,125 families with diverse rare developmental disorders. They present their analytical pipeline as a general strategy for the discovery of genetic causes of autosomal recessive disorders.

    • Nadia Akawi
    • Jeremy McRae
    • Matthew E Hurles
    Research
    Nature Genetics
    Volume: 47, P: 1363-1369