Associated Papers
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
Mass Spectrometric ITEM-FOUR Analysis Reveals Coding Single-Nucleotide Polymorphisms in Human Cardiac Troponin T That Evade Detection by Sandwich ELISAs Which Use Monoclonal Antibodies M7 and M11.7 from the Elecsys Troponin T® Assay.
Kormann K et al.
International Journal of Molecular Sciences, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.
Kubanek M et al.
Esc Heart Failure, 2024
Focus on cardiac troponin complex: From gene expression to cardiomyopathy.
Ragusa R et al.
Genes & Diseases, 2024
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
Genetic predisposition in chemotherapy-induced cardiomyopathy in a 65-year-old female with metastatic breast cancer.
Lee SY et al.
Esc Heart Failure, 2024
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 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
Whole-exome sequencing revealed a novel Troponin T2 in a pediatric patient with severe isolated left ventricular noncompaction cardiomyopathy.
Wang L et al.
Qjm : Monthly Journal of the Association of Physicians, 2023
Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.
Lian H et al.
Journal of Translational Medicine, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R et al.
Npj Genomic Medicine, 2022
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Guo L et al.
Jama Cardiology, 2021
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human TNNT2 Variants.
Pettinato AM et al.
Circulation, 2020
Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing.
Carnevale A et al.
Molecular Genetics & Genomic Medicine, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Variant R94C in TNNT2-Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction.
Ezekian JE et al.
Journal of the American Heart Association, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.
Marey I et al.
Open Medicine (warsaw, Poland), 2020
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.
Long PA et al.
Journal of Cardiovascular Development and Disease, 2017
Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy.
England J et al.
Journal of Cardiovascular Development and Disease, 2017
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
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.
Long PA et al.
Journal of the American Heart Association, 2015