Associated Papers
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2
Properties of Cardiac Myosin with Cardiomyopathic Mutations in Essential Light Chains.
Yampolskaya DS et al.
Biochemistry. Biokhimiia, 2022
Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.
Kurzlechner LM et al.
Journal of Personalized Medicine, 2022
35629155 (PubMed )
Supplement: jpm-12-00733-s001.zip › HCM_ES_Variants_Manuscript__Supplemental_Table_S1.xlsx › MYL3
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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.
Nomura A et al.
Journal of Cardiology, 2016
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
26332594 (PubMed )
Supplement: pone.0135193.s002.xls › Sheet1
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Lawrence L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity.
Andersen PS et al.
Biochemistry Research International, 2012
Cardiomyopathies: classification, clinical characterization, and functional phenotypes.
Szczesna-Cordary D et al.
Biochemistry Research International, 2012
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