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Showing 1–5 of 5 results
Advanced filters: Author: Gregory J. McDermid Clear advanced filters

  • Evan Eichler and colleagues identify a recurrent microdeletion on 16p12.1 associated with developmental, cognitive and neuropsychiatric phenotypes. They also show that more severe phenotypes are frequently correlated with the presence of a second large genomic rearrangement, supporting a complex model of pathogenesis that may underlie the variable expressivity typical of many microdeletion syndromes.

    • Santhosh Girirajan
    • Jill A Rosenfeld
    • Evan E Eichler
    Research
    Nature Genetics
    Volume: 42, P: 203-209

  • Evan Eichler and colleagues analyze copy number variation in 15,767 children with intellectual disability, developmental delay, congenital birth defects and/or other related phenotypes. They identify 59 likely pathogenic CNV regions, including 14 new candidate regions, and estimate that ~14% of disorders in this sample collection are caused by large CNVs.

    • Gregory M Cooper
    • Bradley P Coe
    • Evan E Eichler
    Research
    Nature Genetics
    Volume: 43, P: 838-846

  • Spaceborne thermal observation is used to monitor discrete phenophases of forest understory plants in near-real time and the thermal relationship is used to project phenological changes under future climates.

    • David N. Laskin
    • Gregory J. McDermid
    • Alessandro Montaghi
    Research
    Nature Climate Change
    Volume: 9, P: 419-425

  • Human disturbance of peatland environments due to geological exploration activities can significantly alter peatland greenhouse gas exchange. Here, the authors study peatland disturbance in Alberta, Canada, and estimate that induced methane emissions are approximately 4.4–5.1 kt higher per year than in undisturbed conditions.

    • Maria Strack
    • Shari Hayne
    • Bin Xu
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-8