Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.
Lacaze P et al.
Npj Genomic Medicine, 2021
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J et al.
Bmc Cardiovascular Disorders, 2021
Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype.
Alessi CE et al.
Journal of Clinical Neuromuscular Disease, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.
Alamo L et al.
Elife, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation.
Finsterer J et al.
Neuromuscular Disorders : Nmd, 2014
Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene.
Díaz-Manera J et al.
European Journal of Neurology, 2014
Myosinopathies: pathology and mechanisms.
Tajsharghi H et al.
Acta Neuropathologica, 2013
Genetic testing for dilated cardiomyopathy in clinical practice.
Lakdawala NK et al.
Journal of Cardiac Failure, 2012
Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.
Homayoun H et al.
Neuromuscular Disorders : Nmd, 2011