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Next-generation sequencing is a powerful method to enhance diagnostic yield in global developmental delay/intellectual disability.

作者信息

Kim Jon Soo

机构信息

Department of Pediatrics, Chungbuk National University Hospital, Cheongju, Korea.

出版信息

Clin Exp Pediatr. 2020 Jun;63(6):211-212. doi: 10.3345/cep.2019.01683. Epub 2020 Jun 11.

DOI:10.3345/cep.2019.01683
PMID:32536047
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7303427/
Abstract
摘要

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1
Next-generation sequencing is a powerful method to enhance diagnostic yield in global developmental delay/intellectual disability.
Clin Exp Pediatr. 2020 Jun;63(6):211-212. doi: 10.3345/cep.2019.01683. Epub 2020 Jun 11.
2
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.112例中国智力残疾/发育迟缓患者的靶向二代测序：新突变与候选基因
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The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.无论儿童智力残疾/发育迟缓的严重程度如何，阵列比较基因组杂交的诊断率都很高。
J Child Neurol. 2016 May;31(6):691-9. doi: 10.1177/0883073815613562. Epub 2015 Oct 28.
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Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability.对于不明原因的全面发育迟缓或智力残疾患者，核型分析、染色体微阵列分析和靶向下一代测序的成本效益。
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本文引用的文献

1
Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability.对发育迟缓及/或智力残疾儿童进行的下一代测序基因检测。
Clin Exp Pediatr. 2020 Jun;63(6):195-202. doi: 10.3345/kjp.2019.00808. Epub 2019 Nov 4.
2
Diagnostic yield of next-generation sequencing applied to neurological disorders.下一代测序在神经疾病中的诊断应用。
J Clin Neurosci. 2019 Sep;67:14-18. doi: 10.1016/j.jocn.2019.06.041. Epub 2019 Jul 2.
3
Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.
对韩国发育迟缓及/或智力残疾患者进行靶向新一代测序
Front Pediatr. 2018 Dec 17;6:391. doi: 10.3389/fped.2018.00391. eCollection 2018.
4
Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability.对于不明原因的全面发育迟缓或智力残疾患者，核型分析、染色体微阵列分析和靶向下一代测序的成本效益。
Mol Diagn Ther. 2018 Feb;22(1):129-138. doi: 10.1007/s40291-017-0309-5.
5
A clinical approach to developmental delay and intellectual disability.发育迟缓与智力障碍的临床处理方法。
Clin Med (Lond). 2017 Dec;17(6):558-561. doi: 10.7861/clinmedicine.17-6-558.
6
The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.下一代测序技术在智力障碍研究与诊断中的应用
Cold Spring Harb Perspect Med. 2017 Mar 1;7(3):a026864. doi: 10.1101/cshperspect.a026864.
7
Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing.下一代测序技术的发展趋势与全基因组测序的新时代
Int Neurourol J. 2016 Nov;20(Suppl 2):S76-83. doi: 10.5213/inj.1632742.371. Epub 2016 Nov 22.
8
Genetics and the investigation of developmental delay/intellectual disability.遗传学与发育迟缓/智力障碍的研究。
Arch Dis Child. 2014 Apr;99(4):386-9. doi: 10.1136/archdischild-2013-304063. Epub 2013 Dec 16.
9
Prevalence of intellectual disability: a meta-analysis of population-based studies.智力障碍的患病率：基于人群的研究的荟萃分析。
Res Dev Disabil. 2011 Mar-Apr;32(2):419-36. doi: 10.1016/j.ridd.2010.12.018. Epub 2011 Jan 13.
10
Genetic testing for paediatric neurological disorders.小儿神经疾病的基因检测
Lancet Neurol. 2008 Dec;7(12):1113-26. doi: 10.1016/S1474-4422(08)70257-6.