Comprehensive genomic analysis of patients with disorders of cerebral cortical development
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-018-0137-z.pdf
Reference34 articles.
1. Guerrini R, Dobyns WB. Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 2014;13:710–26.
2. Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 2012;135:1348–69.
3. Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P. Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. Acta Paediatr. 2009;98:421–33.
4. Karaca E, Harel T, Pehlivan D, et al. Genes that affect brain structure and function identified by rare variant analyses of mendelian neurologic disease. Neuron. 2015;88:499–513.
5. Charng WL, Karaca E, Coban Akdemir Z, et al. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genom. 2016;9:42.
Cited by 33 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. De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism;Journal of Clinical Investigation;2024-07-09
2. Resolving the three-dimensional interactome of Human Accelerated Regions during human and chimpanzee neurodevelopment;2024-06-26
3. Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations;Brain Communications;2024
4. Whole genome sequencing analysis in fetal structural anomalies: novel phenotype‐genotype discoveries;Ultrasound in Obstetrics & Gynecology;2023-10-16
5. TUBB3 and KIF21A in neurodevelopment and disease;Frontiers in Neuroscience;2023-08-04
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