Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity-Reference-Cited by-同舟云学术

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Published:2015-11 Issue:11 Volume:17 Page:880-888
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Alfares Ahmed A.^ORCID,Kelly Melissa A.,McDermott Gregory,Funke Birgit H.^ORCID,Lebo Matthew S.,Baxter Samantha B.^ORCID,Shen Jun,McLaughlin Heather M.,Clark Eugene H.,Babb Larry J.,Cox Stephanie W.,DePalma Steven R.^ORCID,Ho Carolyn Y.,Seidman J.G.,Seidman Christine E.^ORCID,Rehm Heidi L.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim2014205.pdf

Reference32 articles.

1. Effect of enzyme replacement therapy with agalsidase alfa on renal function in patients with Fabry disease: data from FOS–the Fabry Outcome Survey.;Schwarting,2006

Cited by 319 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. The French hypertrophic cardiomyopathy gene register: A systematic large gene screening for hypertrophic cardiomyopathy;International Journal of Cardiology;2024-12

2. A Cautionary Tale of Hypertrophic Cardiomyopathy—From “Benign” Left Ventricular Hypertrophy to Stroke, Atrial Fibrillation, and Molecular Genetic Diagnostics: A Case Report and Review of Literature;International Journal of Molecular Sciences;2024-08-29

3. Reassessing the unifying hypothesis for hypercontractility caused by myosin mutations in hypertrophic cardiomyopathy;The EMBO Journal;2024-08-27

4. The role of genetic testing in diagnosing Fabry’s disease and its overlapping with cardiomyopathies: a case series;European Heart Journal - Case Reports;2024-08

5. Allele-Specific Suppression of Variant MHC With High-Precision RNA Nuclease CRISPR-Cas13d Prevents Hypertrophic Cardiomyopathy;Circulation;2024-07-23