Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank-Reference-Cited by-同舟云学术

Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank

Published:2022-07-01 Issue:7 Volume:7 Page:715
ISSN:2380-6583
Container-title:JAMA Cardiology
language:en
Short-container-title:JAMA Cardiol

Author:

Biddinger Kiran J.¹²³⁴,Jurgens Sean J.¹²⁵,Maamari Dimitri¹³,Gaziano Liam¹²,Choi Seung Hoan¹,Morrill Valerie N.¹,Halford Jennifer L.¹,Khera Amit V.¹²³,Lubitz Steven A.¹²⁶,Ellinor Patrick T.¹²⁶,Aragam Krishna G.¹²³

Affiliation:

1. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts

2. Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston

3. Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston

4. Princeton University, Princeton, New Jersey

5. Department of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands

6. Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston

Publisher

American Medical Association (AMA)

Subject

Cardiology and Cardiovascular Medicine

Link

https://jamanetwork.com/journals/jamacardiology/articlepdf/2792281/jamacardiology_biddinger_2022_oi_220019_1656698816.94773.pdf

Reference30 articles.

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3. Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.;Thomson;Genet Med,2019

4. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.;Alfares;Genet Med,2015

5. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.;Walsh;Genet Med,2017

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