Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

Haggerty Christopher M.; James Cynthia A.; Calkins Hugh; Tichnell Crystal; Leader Joseph B.; Hartzel Dustin N.; Nevius Christopher D.; Pendergrass Sarah A.; Person Thomas N.; Schwartz Marci; Ritchie Marylyn D.; Carey David J.; Ledbetter David H.; Williams Marc S.; Dewey Frederick E.; Lopez Alexander; Penn John; Overton John D.; Reid Jeffrey G.; Lebo Matthew; Mason-Suares Heather; Austin-Tse Christina; Rehm Heidi L.; Delisle Brian P.; Makowski Daniel J.; Mehra Vishal C.; Murray Michael F.; Fornwalt Brandon K.

首页> 外文期刊>Genetics in medicine >Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

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Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

机译：具有遗传变体的电子健康记录表型与心律源右心室心肌病相关的遗传变体：对30,716名exame测序的研究

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Purpose: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease. Clinical follow-up of incidental findings in ARVC-associated genes is recommended. We aimed to determine the prevalence of disease thus ascertained.

机译：目的：心律病药右心室心肌病（ARVC）是一种遗传的心脏病。建议使用ARVC相关基因偶然发现的临床随访。我们旨在确定所确定的疾病的患病率。

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《Genetics in medicine》 |2017年第11期|共8页
作者
Haggerty Christopher M.; James Cynthia A.; Calkins Hugh; Tichnell Crystal; Leader Joseph B.; Hartzel Dustin N.; Nevius Christopher D.; Pendergrass Sarah A.; Person Thomas N.; Schwartz Marci; Ritchie Marylyn D.; Carey David J.; Ledbetter David H.; Williams Marc S.; Dewey Frederick E.; Lopez Alexander; Penn John; Overton John D.; Reid Jeffrey G.; Lebo Matthew; Mason-Suares Heather; Austin-Tse Christina; Rehm Heidi L.; Delisle Brian P.; Makowski Daniel J.; Mehra Vishal C.; Murray Michael F.; Fornwalt Brandon K.;
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作者单位

Geisinger Hlth Syst Dept Imaging Sci &

Innovat Danville PA 17822 USA;

Johns Hopkins Univ Dept Med Div Cardiol Baltimore MD USA;

Johns Hopkins Univ Dept Med Div Cardiol Baltimore MD USA;

Johns Hopkins Univ Dept Med Div Cardiol Baltimore MD USA;

Geisinger Hlth Syst Biomed &

Translat Informat Inst Danville PA USA;

Geisinger Hlth Syst Biomed &

Translat Informat Inst Danville PA USA;

Geisinger Hlth Syst Dept Imaging Sci &

Innovat Danville PA 17822 USA;

Geisinger Hlth Syst Biomed &

Translat Informat Inst Danville PA USA;

Geisinger Hlth Syst Biomed &

Translat Informat Inst Danville PA USA;

Geisinger Hlth Syst Genom Med Inst Danville PA USA;

Geisinger Hlth Syst Biomed &

Translat Informat Inst Danville PA USA;

Geisinger Hlth Syst Weis Ctr Hlth Res Danville PA USA;

Geisinger Hlth Syst Genom Med Inst Danville PA USA;

Geisinger Hlth Syst Genom Med Inst Danville PA USA;

Regeneron Genet Ctr Regeneron Pharmaceut Tarrytown NY USA;

Regeneron Genet Ctr Regeneron Pharmaceut Tarrytown NY USA;

Regeneron Genet Ctr Regeneron Pharmaceut Tarrytown NY USA;

Regeneron Genet Ctr Regeneron Pharmaceut Tarrytown NY USA;

Regeneron Genet Ctr Regeneron Pharmaceut Tarrytown NY USA;

Partners HealthCare Personalized Med Lab Mol Med Cambridge MA USA;

Partners HealthCare Personalized Med Lab Mol Med Cambridge MA USA;

Partners HealthCare Personalized Med Lab Mol Med Cambridge MA USA;

Partners HealthCare Personalized Med Lab Mol Med Cambridge MA USA;

Univ Kentucky Dept Physiol Lexington KY USA;

Geisinger Hlth Syst Div Cardiol Danville PA USA;

Geisinger Hlth Syst Div Cardiol Danville PA USA;

Geisinger Hlth Syst Genom Med Inst Danville PA USA;

Geisinger Hlth Syst Dept Imaging Sci &

Innovat Danville PA 17822 USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
arrhythmogenic right ventricular cardiomyopathy; electronic health record; exome sequencing; genotype-phenotype association; incidental findings;

机译：心血生右心室心肌病;电子健康记录;外壳测序;基因型 - 表型协会;附带的发现;

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专利

1. Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing [J] . Haggerty Christopher M., James Cynthia A., Calkins Hugh, Genetics in medicine . 2017,第11期

机译：具有遗传变体的电子健康记录表型与心律源右心室心肌病相关的遗传变体：对30,716名exame测序的研究
2. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. [J] . Cox MG, van der Zwaag PA, van der Werf C, Circulation: An Official Journal of the American Heart Association . 2011,第23期

机译：心律失常性右室发育不良/心肌病：索引患者中的致病性桥粒突变可预测家庭筛查的结果：荷兰心律失常性右室发育不良/心肌病基因型-表型随访研究。
3. Compound and heterozygous mutations of DSG2 identified by Whole Exome Sequencing in arrhythmogenic right ventricular cardiomyopathy/dysplasia with ventricular tachycardia [J] . Lin Yubi, Huang Jiana, Zhao Ting, Journal of Electrocardiology: An International Publication for the Study of the Electrical Activities of the Heart . 2018,第5期

机译：具有室性心动过缓的心律源右心室心肌病/发育不良鉴定的DSG2的化合物和杂合突变
4. DILATED CARDIOMYOPATHY AND ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA: FROM GENE TO PHENOTYPE [C] . ANGELA POLETTI, CHIARA ROCCO, SNJEZANA MIOCIC AND LUISA MESTRONI International Congress on Holter and Noninvasive Electrocardiology . 2000

机译：扩张的心肌病和心律失常右心室发育不良：从基因到表型
5. A Genome-First Approach to Investigating the Biological and Clinical Relevance of Exome-Wide Rare Coding Variation Using Electronic Health Record Phenotypes [D] . Park, Joseph. 2021

机译：一种基因组 - 首先研究使用电子健康记录表型研究外壳稀有编码变异的生物学和临床相关性
6. Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30716 Subjects with Exome Sequencing [O] . Christopher M. Haggerty, Cynthia A. James, Hugh Calkins, -1

机译：电子病历表型在与心律失常性右室心肌病相关的遗传变异的受试者中：对30716名具有外显子组测序受试者的研究
7. Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes [O] . Eric D. Carruth, Wilson Young, Dominik Beer, 2019

机译：基于患病率和电子健康记录的心血性右心室内心肌病相关基因的函数遗传变异损失的表型

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

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