Associated Papers
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
39237976 (PubMed )
Supplement: 12920_2024_2000_MOESM1_ESM.docx
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Dilated cardiomyopathy: a disease of the myocardium.
Sanbe A
Biological & Pharmaceutical Bulletin, 2013
Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death.
Chang B et al.
Molecular Genetics and Metabolism, 2011
Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.
Dellefave LM et al.
Circulation. Cardiovascular Genetics, 2009
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
Uro-Coste E et al.
Neuromuscular Disorders : Nmd, 2009
Sarcomere mutations in cardiogenesis and ventricular noncompaction.
McNally E et al.
Trends in Cardiovascular Medicine, 2009
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