Associated Papers
Novel mutation associated with non-compaction ventricular myocardium: A case report.
Li Y et al.
Esc Heart Failure, 2025
40956134 (PubMed )
Supplement: EHF2-12-4548-s011.xlsx › Sheet1
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
38666070 (PubMed )
Supplement: 44161_2023_346_MOESM3_ESM.xlsx › S5
Inter-Species Rescue of Mutant Phenotype-The Standard for Genetic Analysis of Human Genetic Disorders in Drosophila melanogaster Model.
Ecovoiu AA et al.
International Journal of Molecular Sciences, 2022
Poor Myocardial Compaction in a Patient with Recessive MYL2 Myopathy.
Tamamitsu AM et al.
International Heart Journal, 2021
Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.
Manivannan SN et al.
Plos Genetics, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
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