Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance-Reference-Cited by-同舟云学术

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Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance

Published:2024-03-15 Issue:4 Volume:193 Page:1775-1785
ISSN:0021-1265
Container-title:Irish Journal of Medical Science (1971 -)
language:en
Short-container-title:Ir J Med Sci

Author:

Murphy Jane,Kirk Claire W.,Lambert Deborah M.,McGorrian Catherine,Walsh Roddy,McVeigh Terri P.,Prendiville Terence,Ward Deirdre,Galvin Joseph,Lynch Sally Ann

Funder

National Children's Research Centre

Higher Education Authority

Health Research Board

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s11845-024-03650-4.pdf

Reference51 articles.

1. Walsh R, Cook SA (2017) Issues and challenges in diagnostic sequencing for inherited cardiac conditions. Clin Chem 63(1):116–128. https://doi.org/10.1373/clinchem.2016.254698

2. Martinez HR, Beasley GS, Miller N et al (2021) Clinical insights into heritable cardiomyopathies. Front Genet 12:650. https://doi.org/10.3389/FGENE.2021.663450/BIBTEX

3. Garcia-Elias A, Benito B (2018) Ion channel disorders and sudden cardiac death. Int J Mol Sci 19(3):692. https://doi.org/10.3390/IJMS19030692

4. Harper AR, Goel A, Grace C et al (2021) Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity. Nat Genet 532(53):135–142. https://doi.org/10.1038/s41588-020-00764-0

5. Walsh R, Tadros R, Bezzina CR (2020) When genetic burden reaches threshold. Eur Heart J 41:3849–3855. https://doi.org/10.1093/EURHEARTJ/EHAA269

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