Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases
Author:
Affiliation:
1. Department of Neurology, Huashan Hospital Fudan University Shanghai China
2. Berry Genomics Co., Ltd Beijing China
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1943
Reference50 articles.
1. Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method
2. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
3. The genetics and pathology of mitochondrial disease
4. The ACMG/AMP reputable source criteria for the interpretation of sequence variants
5. MITOMAP: a human mitochondrial genome database--2004 update
Cited by 3 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. Mitochondrial Hearing Loss: Diagnosis and Management;Updates on Hearing Loss and its Rehabilitation;2023-08-25
2. Genetic diagnosis of fetal microcephaly at a single tertiary center in China;Frontiers in Genetics;2023-05-09
3. The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies;Molecular Genetics & Genomic Medicine;2023-02-13
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