The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families
Author:
Funder
Jordan University of Science and Technology
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference34 articles.
1. Dysferlin is a plasma membrane protein and is expressed early in human development;Anderson;Hum. Mol. Genet.,1999
2. Dysferlinopathy;Aoki,1993
3. Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies;Azab;Can. J. Ophthalmol.,2019
4. Defective membrane repair in dysferlin-deficient muscular dystrophy;Bansal;Nature,2003
5. Unveiling the degradative route of the V247M alpha-sarcoglycan mutant responsible for LGMD-2D;Bianchini;Hum. Mol. Genet.,2014
Cited by 5 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. Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources;Clinical Neurology and Neurosurgery;2022-06
2. Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study;European Journal of Neurology;2022-03-10
3. Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies;Neurological Sciences;2022-02-17
4. Heterogeneity in biomarkers, mitogenome and genetic disorders of Arab population with special emphasis on large-scale whole-exome sequencing;Archives of Medical Science;2021-12-27
5. Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family;Diagnostics;2020-09-24
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