Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family
Sign Up to like & getrecommendations! Published in 2021 at "Human Genetics"
DOI: 10.1007/s00439-021-02289-w
Abstract: Dyslexia is a common heritable developmental disorder involving impaired reading abilities. Its genetic underpinnings are thought to be complex and heterogeneous, involving common and rare genetic variation. Multigenerational families segregating apparent monogenic forms of language-related… read more here.
Keywords: sema3c; variation; whole genome; noncoding variation ... See more keywords
9 LIMITED CONTRIBUTION OF RARE, NONCODING VARIATION TO AUTISM SPECTRUM DISORDER FROM SEQUENCING OF 2,076 GENOMES IN QUARTET FAMILIES
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DOI: 10.1016/j.euroneuro.2017.08.010
Abstract: Background Genomic studies in Autism Spectrum Disorder (ASD) have largely focused on high impact de novo mutations that disrupt protein-coding sequence. Given the size of the noncoding genome and its regulatory role in gene function,… read more here.
Keywords: variation; rare noncoding; spectrum disorder; association ... See more keywords
Association of a common genetic variant with Parkinson’s disease is mediated by microglia
Sign Up to like & getrecommendations! Published in 2022 at "Science Translational Medicine"
DOI: 10.1126/scitranslmed.abp8869
Abstract: Studies of multiple neurodegenerative disorders have identified many genetic variants that are associated with risk of disease throughout a lifetime. For example, Parkinson’s disease (PD) risk is attributed in part to both coding mutations in… read more here.
Keywords: cell; noncoding variation; disease; parkinson disease ... See more keywords