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- W2891208807 abstract "Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder (NDD) defined by impairments in social communication and social interactions, accompanied by repetitive behavior and restricted interests. ASD is characterized by its clinical and etiological heterogeneity, which makes it difficult to elucidate the neurobiological mechanisms underlying its pathogenesis. Recently, de novo mutations (DNMs) have been recognized as strong source of genetic causality. Here, we review different aspects of the DNMs associated with ASD, including their functional annotation and classification. In addition, we also focus on the most recent advances in this area, such as the detection of PZMs (post-zygotic mutations), and we outline the main bioinformatics tools commonly employed to study these. Some of these approaches available allow DNMs to be analyzed in the context of gene networks and pathways, helping to shed light on the biological processes underlying ASD. To end this review, a brief insight into the future perspectives for genetic studies into ASD will be provided." @default.
- W2891208807 created "2018-09-27" @default.
- W2891208807 creator A5023153520 @default.
- W2891208807 creator A5057906863 @default.
- W2891208807 creator A5077296737 @default.
- W2891208807 date "2018-09-21" @default.
- W2891208807 modified "2023-10-15" @default.
- W2891208807 title "De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis" @default.
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