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在一个基于社区的大型人群样本中对自闭症谱系障碍进行临床基因检测。

Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample.

作者信息

Moreno-De-Luca Daniel, Kavanaugh Brian C, Best Carrie R, Sheinkopf Stephen J, Phornphutkul Chanika, Morrow Eric M

机构信息

Division of Child and Adolescent Psychiatry, Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University, Providence, Rhode Island.

Hassenfeld Child Health Innovation Institute, Brown University, Providence, Rhode Island.

出版信息

JAMA Psychiatry. 2020 Sep 1;77(9):979-981. doi: 10.1001/jamapsychiatry.2020.0950.

DOI:10.1001/jamapsychiatry.2020.0950
PMID:32401282
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7221847/
Abstract

This study analyzes data from a large, population-based study of people with autism spectrum disorder to evaluate what proportion underwent genetic testing.

摘要

本研究分析了一项基于人群的大型自闭症谱系障碍患者研究的数据，以评估进行基因检测的患者比例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/244c/7221847/097d42cf2c9c/jamapsychiatry-e200950-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/244c/7221847/097d42cf2c9c/jamapsychiatry-e200950-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/244c/7221847/097d42cf2c9c/jamapsychiatry-e200950-g001.jpg

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本文引用的文献

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Autism Res. 2020 Mar;13(3):474-488. doi: 10.1002/aur.2261. Epub 2020 Jan 20.
2
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.荟萃分析和多学科共识声明：外显子组测序是神经发育障碍个体的一线临床诊断测试。
Genet Med. 2019 Nov;21(11):2413-2421. doi: 10.1038/s41436-019-0554-6. Epub 2019 Jun 11.
3
Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample.
PLoS Comput Biol. 2024 Nov 8;20(11):e1012468. doi: 10.1371/journal.pcbi.1012468. eCollection 2024 Nov.
4
Genetic Testing History in Adults with Autism Spectrum Disorder.成人自闭症谱系障碍的基因检测史
medRxiv. 2024 Aug 19:2024.08.18.24312179. doi: 10.1101/2024.08.18.24312179.
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Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD.基因明确的自闭症谱系障碍（ASD）儿童中自闭症谱系障碍（ASD）和癫痫表型的基因诊断率
J Autism Dev Disord. 2024 Aug 13. doi: 10.1007/s10803-024-06512-1.
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Views of Genetic Testing for Autism Among Autism Self-Advocates: A Qualitative Study.自闭症自我倡导者对自闭症基因检测的看法：一项定性研究。
AJOB Empir Bioeth. 2024 Oct-Dec;15(4):262-279. doi: 10.1080/23294515.2024.2336903. Epub 2024 Apr 21.
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Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.探讨自闭症谱系障碍患儿队列中的基因检测请求、基因改变和临床关联。
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