The contribution of whole-exome sequencing to intellectual disability diagnosis and knowledge of underlying molecular mechanisms: A systematic review and meta-analysis
Author:
Funder
INCT-INaGeMP
Publisher
Elsevier BV
Subject
Health, Toxicology and Mutagenesis,Genetics
Reference154 articles.
1. The relation between intellectual functioning and adaptive behavior in the diagnosis of intellectual disability;Tassé;Intellect. Dev. Disabil.,2016
2. Intellectual disability, the long way from genes to biological mechanisms;Marti;J. Transl. Genet. Genom.,2020
3. Committee on Genetics, Comprehensive evaluation of the child with intellectual disability or global developmental delays;Moeschler;Pediatrics,2014
4. Genetic studies in intellectual disability and related disorders;Vissers;Nat. Rev. Genet.,2016
5. Overview of next-generation sequencing technologies;Slatko;Curr. Protoc. Mol. Biol.,2018
Cited by 13 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Genetic Testing for Global Developmental Delay in Early Childhood;JAMA Network Open;2024-06-05
2. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases;Genetics in Medicine;2024-05
3. Exploring information needs among family caregivers of children with intellectual disability in a rural area of South Africa: a qualitative study;BMC Public Health;2024-04-24
4. Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study;Molecular Genetics & Genomic Medicine;2023-12-02
5. A new perspective on isotretinoin in pregnancy: Pregnancy outcomes, evaluation of complex phenotypes, and importance of teratological counselling;European Journal of Obstetrics & Gynecology and Reproductive Biology;2023-12
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3