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Technological readiness and implementation of genomic-driven precision medicine for complex diseases.复杂疾病的基因组驱动精准医学的技术准备和实施。
J Intern Med. 2021 Sep;290(3):602-620. doi: 10.1111/joim.13330. Epub 2021 Jul 2.
2
Genetic testing in dementia - utility and clinical strategies.痴呆症的基因检测——实用性和临床策略。
Nat Rev Neurol. 2021 Jan;17(1):23-36. doi: 10.1038/s41582-020-00416-1. Epub 2020 Nov 9.
3
Molybdenum cofactor biology, evolution and deficiency.钼辅因子的生物学、进化与缺乏症
Biochim Biophys Acta Mol Cell Res. 2021 Jan;1868(1):118883. doi: 10.1016/j.bbamcr.2020.118883. Epub 2020 Oct 2.
4
From bench to bedside and back again: translational research in autoinflammation.从基础研究到临床应用再回到基础研究:自身炎症性疾病的转化研究。
Nat Rev Rheumatol. 2015 Oct;11(10):573-85. doi: 10.1038/nrrheum.2015.79. Epub 2015 Jun 16.
5
Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency.超罕见疾病:钼辅酶缺陷的自然史的定量分析。
Genet Med. 2015 Dec;17(12):965-70. doi: 10.1038/gim.2015.12. Epub 2015 Mar 12.
6
Next generation sequencing and the future of genetic diagnosis.下一代测序技术与基因诊断的未来。
Neurotherapeutics. 2014 Oct;11(4):699-707. doi: 10.1007/s13311-014-0288-8.

Editorial: Next Generation Sequencing (NGS) for Rare Diseases Diagnosis.

作者信息

Yang Xiu-An

机构信息

Laboratory of Genetic Engineering and Genomics, School of Basic Medical Sciences, Chengde Medical University, Chengde, China.

Hebei Key Laboratory of Nerve Injury and Repair, Chengde Medical University, Chengde, China.

出版信息

Front Genet. 2021 Dec 23;12:808042. doi: 10.3389/fgene.2021.808042. eCollection 2021.

DOI:10.3389/fgene.2021.808042
PMID:35003232
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8733941/
Abstract
摘要