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Endophenotype trait domains for advancing gene discovery in autism spectrum disorder.自闭症谱系障碍中推进基因发现的表型特征领域。
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Neurogenetic mechanisms of risk for ADHD: Examining associations of polygenic scores and brain volumes in a population cohort.ADHD 风险的神经遗传学机制：在人群队列中检查多基因评分和脑容量的关联。
J Neurodev Disord. 2023 Aug 31;15(1):30. doi: 10.1186/s11689-023-09498-6.
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The physical and psychiatric health conditions related to autism genetic scores, across genetic ancestries, sexes and age-groups in electronic health records.电子健康记录中与自闭症遗传评分相关的身体和精神健康状况，涉及遗传背景、性别和年龄组。
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Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis.与 22q11.2 缺失综合征相关的事件相关电位（ERP）标志物及相关精神病。
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Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery.认知和行为的表观遗传学：来自表观遗传机制 Mendelian 疾病的见解。
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Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.神经发育障碍患儿中代谢型谷氨酸受体相互作用基因的罕见重复拷贝数变异。
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8
Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.在 SPARK 队列中发现的常见遗传风险变异支持 DDHD2 作为自闭症的候选风险基因。
Transl Psychiatry. 2020 Aug 3;10(1):265. doi: 10.1038/s41398-020-00953-9.
9
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.精神障碍的八大类疾病中的基因组关系、新位点和多效机制。
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10
Clinical use of current polygenic risk scores may exacerbate health disparities.现行多基因风险评分的临床应用可能会加剧健康差异。
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Etiologic heterogeneity, pleiotropy, and polygenicity in behaviorally defined intellectual and developmental disabilities.

作者信息

Girault Jessica B, Veatch Olivia J, Won Hyejung

机构信息

Department of Psychiatry and Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, USA.

Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, USA.

出版信息

J Neurodev Disord. 2024 Mar 13;16(1):8. doi: 10.1186/s11689-024-09526-z.

DOI:10.1186/s11689-024-09526-z
PMID:38481128
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10936123/
Abstract
摘要