Convergence and Divergence of Rare Genetic Disorders on Brain Phenotypes: A Review

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    "abstract": "Rare genetic disorders modulating gene expression-as exemplified by gene dosage disorders (GDDs)-represent a collectively common set of high-risk factors for neuropsychiatric illness. Research on GDDs is rapidly expanding because these variants have high effect sizes and a known genetic basis. Moreover, the prevalence of recurrent GDDs (encompassing aneuploidies and certain copy number variations) enables genetic-first phenotypic characterization of the same GDD across multiple individuals, thereby offering a unique window into genetic influences on the human brain and behavior. However, the rapid growth of GDD research has unveiled perplexing phenotypic convergences and divergences across genomic loci; while phenotypic profiles may be specifically associated with a genomic variant, individual behavioral and neuroimaging traits appear to be nonspecifically influenced by most GDDs.",
    "audit": {},
    "authors": "Raznahan A, Won H, Glahn DC, Jacquemont S.",
    "award": {
        "@id": "/awards/HG012003/",
        "component": "functional characterization"
    },
    "creation_timestamp": "2023-03-09T23:49:13.588669+00:00",
    "donors": [],
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    "lab": {
        "@id": "/labs/hyejung-won/",
        "title": "Hyejung Won, UNC"
    },
    "publication_identifiers": [
        "doi:10.1001/jamapsychiatry.2022.1450"
    ],
    "published_by": [
        "IGVF"
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    "release_timestamp": "2023-03-22T23:37:04.775624+00:00",
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    "schema_version": "6",
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    "status": "released",
    "submitted_by": {
        "@id": "/users/6667a92a-d202-493a-8c7d-7a56d1380356/",
        "title": "Khine Lin"
    },
    "summary": "Convergence and Divergence of Rare Genetic Disorders on Brain Phenotypes: A Review",
    "title": "Convergence and Divergence of Rare Genetic Disorders on Brain Phenotypes: A Review",
    "uuid": "a8385891-a9e3-4914-8408-05e4a41f1387",
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