Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key
Author:
Publisher
Elsevier BV
Subject
General Biochemistry, Genetics and Molecular Biology
Reference9 articles.
1. The three-dimensional genome: regulating gene expression during pluripotency and development;Andrey;Development,2017
2. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly;Aneichyk;Cell,2018
3. Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1;Bragg;Proc. Natl. Acad. Sci. USA,2017
4. Retrotransposons as regulators of gene expression;Elbarbary;Science,2016
5. Disease gene identification strategies for exome sequencing;Gilissen;Eur. J. Hum. Genet.,2012
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. The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families;Investigative Ophthalmology & Visual Science;2024-08-30
2. SpRY-mediated screens facilitate functional dissection of non-coding sequences at single-base resolution;Cell Genomics;2024-07
3. Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia;Nature Communications;2024-06-13
4. Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2;JCI Insight;2024-04-09
5. POSTRE: a tool to predict the pathological effects of human structural variants;Nucleic Acids Research;2023-03-31
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