Associated Papers
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
The p.Asn271Ile Variant in the TNNT2 Gene Is Associated With Low-Risk Late-Onset Hypertrophic Cardiomyopathy.
Larrañaga-Moreira JM et al.
Jacc. Heart Failure, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Focus on cardiac troponin complex: From gene expression to cardiomyopathy.
Ragusa R et al.
Genes & Diseases, 2024
Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.
Silva SME et al.
Cardiovascular Diagnosis and Therapy, 2024
Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.
Kim Y et al.
Circulation. Genomic and Precision Medicine, 2023
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
Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants.
Weis A et al.
Journal of Personalized Medicine, 2023
Allele-specific silencing by RNAi of R92Q and R173W mutations in cardiac troponin T.
Migliore L et al.
Experimental Biology and Medicine (maywood, N.j.), 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers.
Hughes RK et al.
Journal of the American Heart Association, 2021
Arrhythmogenic potential of myocardial disarray in hypertrophic cardiomyopathy: genetic basis, functional consequences and relation to sudden cardiac death.
Finocchiaro G et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2021
Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.
Shakur R et al.
Npj Genomic Medicine, 2021
Mutation location of HCM-causing troponin T mutations defines the degree of myofilament dysfunction in human cardiomyocytes.
Schuldt M et al.
Journal of Molecular and Cellular Cardiology, 2021
Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human TNNT2 Variants.
Pettinato AM et al.
Circulation, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Clinical implications of sarcomere and nonsarcomere gene variants in patients with left ventricular noncompaction cardiomyopathy.
Li S et al.
Molecular Genetics & Genomic Medicine, 2019
Presence of Hypertrophic Cardiomyopathy Related Gene Mutations and Clinical Manifestations in Vietnamese Patients With Hypertrophic Cardiomyopathy.
Tran Vu MT et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2019
[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
Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy.
Li S et al.
Journal of the American Heart Association, 2018
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Kobayashi Y et al.
Genome Medicine, 2017
Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.
Forleo C et al.
Plos One, 2017
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.
Tian T et al.
Heart and Vessels, 2015
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
Kassem HSh et al.
Journal of Cardiovascular Translational Research, 2013
[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
Familial hypertrophic cardiomyopathy: from mutations to functional defects.
Bonne G et al.
Circulation Research, 1998