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Showing 1–6 of 6 results
Advanced filters: Author: Jason Homsy Clear advanced filters

  • The microbial RNA-guided CRISPR/Cas9 system has robust genome-editing activities, but the off-target effects of the Cas9 nuclease have only recently begun to be analysed. Here the authors provide evidence for high specificity of the Cas9 nuclease on targeting of the Tafazzin gene in human-induced pluripotent stem cells and demonstrate the impact of single-nucleotide variations of the human genome on Cas9 specificity.

    • Luhan Yang
    • Dennis Grishin
    • George Church
    ResearchOpen Access
    Nature Communications
    Volume: 5, P: 1-6

  • Exome sequencing of 2,871 probands with congenital heart disease (CHD) provides new insights into the genetic architecture of these disorders. The results implicate new genes in CHD pathogenesis and highlight striking overlap between genes with damaging de novo mutations in individuals with CHD and autism.

    • Sheng Chih Jin
    • Jason Homsy
    • Martina Brueckner
    Research
    Nature Genetics
    Volume: 49, P: 1593-1601

  • Congenital heart disease (CHD) is a disorder that occurs in ∼1% of live births. Here the authors describe a genome-wide allele-specific expression analyses in CHD patients, identifying five new genes involved in CHD and showing that paternally-expressed imprinted genes are monoallelic, while maternally-expressed imprinted genes are biallelic.

    • David M. McKean
    • Jason Homsy
    • J. G. Seidman
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-9

  • Advanced paternal age associates with increased risk for psychiatric and developmental disorders in offspring. Here, Taylor et al. utilize parent-child trio exome sequencing data sets to estimate the contribution of paternal age-related de novo mutations to multiple disorders, including heart disease and schizophrenia.

    • Jacob L. Taylor
    • Jean-Christophe P. G. Debost
    • Elise B. Robinson
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-9