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Impact of RNA testing on cardiac variant interpretation and patient management.

作者信息

Jankelson Lior, Zimmermann Heather, Fowler Steven, Borneman Linda, Conner Blair, Wu Sitao, Karam Rachid, Chinitz Larry, Cerrone Marina

机构信息

Leon H. Charney Division of Cardiology, NYU School of Medicine, New York, New York.

Ambry Genetics, Aliso Viejo, California.

出版信息

HeartRhythm Case Rep. 2019 May 8;5(8):402-406. doi: 10.1016/j.hrcr.2019.04.008. eCollection 2019 Aug.

DOI:10.1016/j.hrcr.2019.04.008
PMID:31453089
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6700669/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d842/6700669/6dbb900dc8ac/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d842/6700669/0e92e2242940/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d842/6700669/6dbb900dc8ac/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d842/6700669/0e92e2242940/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d842/6700669/6dbb900dc8ac/gr2.jpg

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本文引用的文献

1
Quantitative Analysis of and Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay.使用新型RNA大规模平行测序分析对生殖系剪接变体进行定量分析。
Front Oncol. 2018 Jul 27;8:286. doi: 10.3389/fonc.2018.00286. eCollection 2018.
2
Identification of pathogenic gene mutations in and that alter RNA splicing.鉴定改变 RNA 剪接的 和 中的致病基因突变。
Proc Natl Acad Sci U S A. 2017 Jul 18;114(29):7689-7694. doi: 10.1073/pnas.1707741114. Epub 2017 Jul 5.
3
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
不明原因心脏骤停评估中的基因检测：来自CASPER（射血分数保留的心脏骤停幸存者注册研究）
Circ Cardiovasc Genet. 2017 Jun;10(3). doi: 10.1161/CIRCGENETICS.116.001686.
4
Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
5
A Prospective Study of Sudden Cardiac Death among Children and Young Adults.前瞻性研究儿童和青年人群中心脏性猝死。
N Engl J Med. 2016 Jun 23;374(25):2441-52. doi: 10.1056/NEJMoa1510687.
6
Iron Overload or Oxidative Stress? Insight into a Mechanism of Early Cardiac Manifestations of Asymptomatic Hereditary Hemochromatosis Subjects with C282Y Homozygosity.铁过载还是氧化应激？对无症状C282Y纯合子遗传性血色素沉着症患者早期心脏表现机制的洞察。
J Cardiovasc Transl Res. 2016 Aug;9(4):400-1. doi: 10.1007/s12265-016-9704-2. Epub 2016 Jun 8.
7
Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young.年轻人群中不明原因猝死相关罕见CACNA1C基因变异的分子与功能特征分析
Congenit Heart Dis. 2016 Dec;11(6):683-692. doi: 10.1111/chd.12371. Epub 2016 May 24.
8
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
9
HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.遗传性原发性心律失常综合征患者诊断与管理的HRS/EHRA/APHRS专家共识声明：2013年5月由HRS、EHRA和APHRS认可，2013年6月由ACCF、AHA、PACES和AEPC认可。
Heart Rhythm. 2013 Dec;10(12):1932-63. doi: 10.1016/j.hrthm.2013.05.014. Epub 2013 Aug 30.
10
Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study.致心律失常性右室心肌病 1 型患者心脏性猝死风险预测模型的建立与验证：多中心研究
J Am Coll Cardiol. 2012 Jan 31;59(5):493-500. doi: 10.1016/j.jacc.2011.08.078.