Associated Papers
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Josephs KS et al.
Genome Medicine, 2024
39472908 (PubMed )
Supplement: 13073_2024_1390_MOESM1_ESM.xlsx › Table_S11
Tropomyosin-troponin complex in inherited cardiomyopathies.
Juárez CK et al.
Heart Rhythm, 2024
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S8
Regional myocardial function at preclinical disease stage of hypertrophic cardiomyopathy in female gene variant carriers.
Parbhudayal RY et al.
The International Journal of Cardiovascular Imaging, 2021
Increased Myocardial Oxygen Consumption Precedes Contractile Dysfunction in Hypertrophic Cardiomyopathy Caused by Pathogenic TNNT2 Gene Variants.
Parbhudayal RY et al.
Journal of the American Heart Association, 2020
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Norrish G et al.
Circulation, 2019
31006259 (PubMed )
Supplement: cir-140-184-s001.pdf
[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province].
Pang MJ et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2018
[Cardiac troponin I gene mutation (Asp127Tyr) in a Chinese patient with hypertrophic cardiomyopathy].
SHENG HZ et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2008
Ile90Met, a novel mutation in the cardiac troponin T gene for familial hypertrophic cardiomyopathy in a Chinese pedigree.
Xu C et al.
Genetics Research, 2008
[A novel missense mutation, K124N, in the troponin T gene of Chinese populations with hypertrophic cardiomyopathy].
An FS et al.
Zhonghua Yi Xue Za Zhi, 2004
Select a paper to view details