Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference95 articles.
1. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: Results from 500 unselected families with undiagnosed genetic conditions;Farwell;Genet. Med.,2015
2. Diagnostic exome sequencing in 266 Dutch patients with visual impairment;Haer-Wigman;Eur. J. Hum. Genet.,2017
3. Exome sequencing in routine diagnostics: A generic test for 254 patients with primary immunodeficiencies;Arts;Genome Med.,2019
4. What can exome sequencing do for you?;Majewski;J. Med. Genet.,2011
5. An integrated encyclopedia of DNA elements in the human genome;Kundaje;Nature,2012
Cited by 11 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. Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease;Genome Medicine;2024-01-06
2. Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy;Human Mutation;2024-01-04
3. Computational methods in glaucoma research: Current status and future outlook;Molecular Aspects of Medicine;2023-12
4. Stage-specific dynamic reorganization of genome topology shapes transcriptional neighborhoods in developing human retinal organoids;Cell Reports;2023-12
5. Comments on “The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy”;BMC Ophthalmology;2023-09-08
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