Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
Author:
Funder
Leducq Foundation
Wellcome Trust
Rosetrees Trust
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference59 articles.
1. De novo mutations in regulatory elements in neurodevelopmental disorders;Short;Nature,2018
2. Looking beyond the genes: the role of non-coding variants in human disease;Spielmann;Hum. Mol. Genet.,2016
3. Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder;An;Science,2018
4. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities;Chong;Am. J. Hum. Genet.,2015
5. Evidence for 28 genetic disorders discovered by combining healthcare and research data;Kaplanis;Nature,2020
Cited by 44 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. InDel variations and gene expression analysis related to Fusarium wilt resistance in Gossypium barbadense;Crop Science;2024-08-24
2. Modulation of prion protein expression through cryptic splice site manipulation;Journal of Biological Chemistry;2024-08
3. Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes;Genome Biology;2024-04-29
4. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features;Human Genetics and Genomics Advances;2024-04
5. Upstream open reading frame-introducing variants in patients with primary familial brain calcification;European Journal of Human Genetics;2024-03-04
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