Associated Papers
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy.
de Frutos F et al.
Journal of the American Heart Association, 2024
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
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.
Sepp R et al.
Diagnostics (basel, Switzerland), 2022
Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.
Kurzlechner LM et al.
Journal of Personalized Medicine, 2022
Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
Khan RS et al.
Journal of the American Heart Association, 2022
Differences between genetic dilated cardiomyopathy and myocarditis in children presenting with severe cardiac dysfunction.
Gran F et al.
European Journal of Pediatrics, 2022
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 testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Guo L et al.
Jama Cardiology, 2021
VENUS, a Novel Selection Approach to Improve the Accuracy of Neoantigens' Prediction.
Leoni G et al.
Vaccines, 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
Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing.
Carnevale A et al.
Molecular Genetics & Genomic Medicine, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Genetic Testing in Pediatric Left Ventricular Noncompaction.
Miller EM et al.
Circulation. Cardiovascular Genetics, 2017
A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.
Wang C et al.
Journal of the American Heart Association, 2017
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
Fibrillin-1 Gene Mutations in Left Ventricular Non-compaction Cardiomyopathy.
Parent JJ et al.
Pediatric Cardiology, 2016
Haplotype sharing test maps genes for familial cardiomyopathies.
van der Zwaag PA et al.
Clinical Genetics, 2011