Associated Papers
Multiomics analysis unveils the cellular ecosystem with clinical relevance in aldosterone-producing adenomas with KCNJ5 mutations.
Yokomoto-Umakoshi M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
MYH7 variants cause complex congenital heart disease.
Ritter A et al.
American Journal of Medical Genetics. Part A, 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 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
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
The pathogenicity of genetic variants previously associated with left ventricular non-compaction.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2016
Genetic cardiomyopathies causing heart failure.
Cahill TJ et al.
Circulation Research, 2013
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.
Vermeer AM et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013
Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.
van Engelen K et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 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
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
Molecular genetics of congenital atrial septal defects.
Posch MG et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2010
Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.
Dellefave LM et al.
Circulation. Cardiovascular Genetics, 2009
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.
Finsterer J
Pediatric Cardiology, 2009
Sarcomere mutations in cardiogenesis and ventricular noncompaction.
McNally E et al.
Trends in Cardiovascular Medicine, 2009
Sarcomere mutations in cardiomyopathy, noncompaction, and the developing heart.
Dellefave L et al.
Circulation, 2008
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.
Waldmüller S et al.
Clinical Chemistry, 2008
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.
Budde BS et al.
Plos One, 2007