Associated Papers
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Left Ventricular Noncompaction Cardiomyopathy in Children: A Focus on Genetic and Molecular Mechanisms.
Lehman MB et al.
Reviews in Cardiovascular Medicine, 2025
Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.
Perez SM et al.
Journal of Developmental Biology, 2025
Cardiac electrical abnormalities in a mouse model of left ventricular non-compaction cardiomyopathy.
Fernandes VS et al.
Plos One, 2025
Intricate MIB1-NOTCH-GATA6 Interactions in Cardiac Valvular and Septal Development.
Piñeiro-Sabarís R et al.
Journal of Cardiovascular Development and Disease, 2024
The Trouble with Trabeculation: How Genetics Can Help to Unravel a Complex and Controversial Phenotype.
Walsh R
Journal of Cardiovascular Translational Research, 2023
A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve.
Siguero-Álvarez M et al.
Circulation, 2023
Genetic Basis of Left Ventricular Noncompaction.
Rojanasopondist P et al.
Circulation. Genomic and Precision Medicine, 2022
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 Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
An EGLN1 mutation may regulate hypoxic response in cyanotic congenital heart disease through the PHD2/HIF-1A pathway.
Zhou Y et al.
Genes & Diseases, 2019
Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy.
Dong X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
The pathogenicity of genetic variants previously associated with left ventricular non-compaction.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2016
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy.
Luxán G et al.
Nature Medicine, 2013