A framework for an evidence-based gene list relevant to autism spectrum disorder
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/s41576-020-0231-2.pdf
Reference108 articles.
1. Lai, M. C., Lombardo, M. V. & Baron-Cohen, S. Autism. Lancet 383, 896–910 (2014).
2. Tammimies, K. et al. Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA 314, 895–903 (2015). This paper shows among a heterogeneous sample of children with ASD that the diagnostic yield was higher in children with more complex morphological phenotypes.
3. Feliciano, P. et al. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom. Med. 4, 19 (2019).
4. Sanders, S. J. et al. Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron 87, 1215–1233 (2015). This large study uses microarray and sequencing data to reveal strong evidence that de novo mutations are associated with ASD apart from the risk for ID.
5. Ronemus, M., Iossifov, I., Levy, D. & Wigler, M. The role of de novo mutations in the genetics of autism spectrum disorders. Nat. Rev. Genet. 15, 133–141 (2014).
Cited by 97 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. Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review;Journal of Child Neurology;2024-09-09
2. Integrative genetic analysis: cornerstone of precision psychiatry;Molecular Psychiatry;2024-08-30
3. Dynamic convergence of autism disorder risk genes across neurodevelopment;2024-08-24
4. Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD;Journal of Autism and Developmental Disorders;2024-08-13
5. Database-assisted screening of autism spectrum disorder related gene set;Molecular Brain;2024-08-09
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