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本文引用的文献

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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.全外显子组测序鉴定严重脑畸形的隐性 WDR62 突变。
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A genome-wide scan for common alleles affecting risk for autism.全基因组扫描寻找常见等位基因影响自闭症风险。
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Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.全基因组关联研究鉴定的与高甘油三酯血症相关基因的稀有变异过多。
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Progress in cytogenetics: implications for child psychopathology.细胞遗传学的进展:对儿童精神病理学的影响。
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Genetic signatures of exceptional longevity in humans.人类超长寿命的遗传特征。
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Penetrance for copy number variants associated with schizophrenia.与精神分裂症相关的拷贝数变异的外显率。
Hum Mol Genet. 2010 Sep 1;19(17):3477-81. doi: 10.1093/hmg/ddq259. Epub 2010 Jun 29.
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Functional impact of global rare copy number variation in autism spectrum disorders.自闭症谱系障碍中全球罕见拷贝数变异的功能影响。
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儿童精神障碍的遗传学:关注自闭症和妥瑞氏症。

The genetics of child psychiatric disorders: focus on autism and Tourette syndrome.

机构信息

Department of Child Psychiatry, Yale University School of Medicine, New Haven, CT 06510, USA.

出版信息

Neuron. 2010 Oct 21;68(2):254-69. doi: 10.1016/j.neuron.2010.10.004.

DOI:10.1016/j.neuron.2010.10.004
PMID:20955933
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3292208/
Abstract

Investigations into the genetics of child psychiatric disorders have finally begun to shed light on molecular and cellular mechanisms of psychopathology. The first strains of success in this notoriously difficult area of inquiry are the result of an increasingly sophisticated appreciation of the allelic architecture of common neuropsychiatric and neurodevelopmental disorders, the consolidation of large patient cohorts now beginning to reach sufficient size to power reliable studies, the emergence of genomic tools enabling comprehensive investigations of rare as well as common genetic variation, and advances in developmental neuroscience that are fueling the rapid translation of genetic findings.

摘要

儿童精神疾病遗传学的研究终于开始揭示精神病理学的分子和细胞机制。在这个众所周知的困难研究领域中,第一批成功的成果是由于人们对常见神经精神和神经发育障碍的等位基因结构的认识不断加深,以及大型患者队列的整合,现在开始达到足够的规模以进行可靠的研究,出现了基因组工具,使对罕见和常见遗传变异的全面研究成为可能,以及发育神经科学的进步,这些都推动了遗传发现的快速转化。