Genomics elucidates both common and rare disease aetiology
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-021-01001-w.pdf
Reference14 articles.
1. Schreiner Y, Schaible T, Rafat N. Genetics of diaphragmatic hernia. Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00972-0
2. Traynor BJ, Gottesman RF. The value of studying rare genetic variants and other emerging themes in neurogenetics. Brain. 2021;144:2555–6.
3. Matalonga L, Hernández-Ferrer C, Piscia D, Solve-RD SNV-indel working group, Schüle R, Synofzik M, et al. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021;29:1337–47.
4. de Boer E, Ockeloen CW, Matalonga L, Horvath R, Solve-RD SNV-indel working group, Rodenburg RJ, et al. A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis. Eur J Hum Genet. 2021;29:1359–68.
5. Guo L, Engelen BPH, Hemel IMGM, de Coo IFM, Vreeburg M, Sallevelt SCEH, et al. Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency. Eur J Hum Genet. 2021. https://doi.org/10.1038/s41431-021-00947-1
Cited by 2 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. Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia;BMJ Open;2023-11
2. Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia;2023-09-04
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