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Showing 1–5 of 5 results
Advanced filters: Author: Safaa Saker-Delye Clear advanced filters

  • Genomic analyses applied to 14 childhood- and adult-onset psychiatric disorders identifies five underlying genomic factors that explain the majority of the genetic variance of the individual disorders.

    • Andrew D. Grotzinger
    • Josefin Werme
    • Jordan W. Smoller
    ResearchOpen Access
    Nature
    Volume: 649, P: 406-415

  • A genome-wide association study including over 76,000 individuals with schizophrenia and over 243,000 control individuals identifies common variant associations at 287 genomic loci, and further fine-mapping analyses highlight the importance of genes involved in synaptic processes.

    • Vassily Trubetskoy
    • Antonio F. Pardiñas
    • Jim van Os
    Research
    Nature
    Volume: 604, P: 502-508

  • Recessive dystrophic epidermolysis bullosa (RDEB) is a severe blistering condition caused by pathogenic variants in the COL7A1 gene and may present with different disease endotypes. In this study, the authors characterise a cohort of RDEB adults to highlight variations in immune cell phenotypes and metabolic profiles, particularly in T cells and NK cells.

    • Nell Hirt
    • Enzo Manchon
    • Reem Al-Daccak
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-18

  • Ammar Al-Chalabi, Jan Veldink and colleagues perform a genome-wide association study for amyotrophic lateral sclerosis (ALS) in 15,156 cases and 26,242 controls. They identify three new genome-wide-significant variants and establish ALS as a complex trait with a polygenic architecture, but with a distinct and important role for low-frequency variants.

    • Wouter van Rheenen
    • Aleksey Shatunov
    • Jan H Veldink
    Research
    Nature Genetics
    Volume: 48, P: 1043-1048