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Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.Meta 分析遗传性肥厚型心肌病发病的外显率及疾病进展的系统评价
Circulation. 2024 Jan 9;149(2):107-123. doi: 10.1161/CIRCULATIONAHA.123.065987. Epub 2023 Nov 6.
2
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.研究生物库中可操作基因组结果的返还：分析有效性、临床实施和资源利用。
Am J Hum Genet. 2021 Dec 2;108(12):2224-2237. doi: 10.1016/j.ajhg.2021.10.005. Epub 2021 Nov 8.
3
Temporal Trend of Age at Diagnosis in Hypertrophic Cardiomyopathy: An Analysis of the International Sarcomeric Human Cardiomyopathy Registry.肥厚型心肌病发病年龄的时间趋势：国际肌小节性人类心肌病注册分析。
Circ Heart Fail. 2020 Sep;13(9):e007230. doi: 10.1161/CIRCHEARTFAILURE.120.007230. Epub 2020 Sep 8.
4
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.肌节蛋白基因突变携带者肥厚型心肌病的外显率。
J Am Coll Cardiol. 2020 Aug 4;76(5):550-559. doi: 10.1016/j.jacc.2020.06.011.

Longitudinal Evaluation of Genetic Hypertrophic Cardiomyopathy Penetrance and Transition to Disease in an Academic Biobank.

作者信息

Shin Joseph Y, Small Aeron M, Blout Zawatsky Carrie L, Fifer Michael A, Tower-Rader Albree, Green Robert C, Lebo Matthew, Natarajan Pradeep

机构信息

Cardiology Division, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.

Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.

出版信息

JACC Adv. 2025 Jan 8;4(2):101520. doi: 10.1016/j.jacadv.2024.101520. eCollection 2025 Feb.

DOI:10.1016/j.jacadv.2024.101520
PMID:39886308
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11780075/
Abstract
摘要