Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Poor Myocardial Compaction in a Patient with Recessive MYL2 Myopathy.
Tamamitsu AM et al.
International Heart Journal, 2021
Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.
Sitbon YH et al.
Journal of Muscle Research and Cell Motility, 2020
Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.
Yadav S et al.
Pflugers Archiv : European Journal of Physiology, 2019
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.
Rani DS et al.
Cardiology, 2018
Pseudophosphorylation of cardiac myosin regulatory light chain: a promising new tool for treatment of cardiomyopathy.
Yadav S et al.
Biophysical Reviews, 2017
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 2015
NECTAR: a database of codon-centric missense variant annotations.
Gong S et al.
Nucleic Acids Research, 2014
Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.
Gu Y et al.
Protein & Cell, 2013
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
Weterman MA et al.
Brain : a Journal of Neurology, 2013
In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.
Harris SP et al.
Circulation Research, 2011
The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.
Szczesna-Cordary D et al.
Journal of Cell Science, 2005
Accuracy of European diagnostic criteria for familial hypertrophic cardiomyopathy in a genotyped population.
Charron P et al.
International Journal of Cardiology, 2003
Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy.
Roopnarine O
Biophysical Journal, 2003
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.
Flavigny J et al.
Journal of Molecular Medicine (berlin, Germany), 1998