Associated Papers
Genetic variations in PTPN11 lead to a recurrent left ventricular outflow tract obstruction phenotype in childhood hypertrophic cardiomyopathy.
Liu S et al.
The Journal of Thoracic and Cardiovascular Surgery, 2025
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.
Khan RS et al.
Journal of the American Heart Association, 2022
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Thompson AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
Suay-Corredera C et al.
The Journal of Biological Chemistry, 2021
Nanomechanical Phenotypes in Cardiac Myosin-Binding Protein C Mutants That Cause Hypertrophic Cardiomyopathy.
Suay-Corredera C et al.
Acs Nano, 2021
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Helms AS et al.
Circulation. Genomic and Precision Medicine, 2020
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.
Aguib Y et al.
Npj Genomic Medicine, 2020
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.
Jiang P et al.
Frontiers in Genetics, 2019
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.
Song JS et al.
Journal of Human Genetics, 2017
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
Gómez J et al.
Circulation. Cardiovascular Genetics, 2017
Clinical and genetic diagnosis of familial hypertrophic cardiomyopathy: Results in pediatric cardiology.
Cardoso B et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2017
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Kobayashi Y et al.
Genome Medicine, 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
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Mademont-Soler I et al.
Plos One, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.
Liu X et al.
Scientific Reports, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Structural characterization of the C3 domain of cardiac myosin binding protein C and its hypertrophic cardiomyopathy-related R502W mutant.
Zhang XL et al.
Biochemistry, 2014
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
Kapplinger JD et al.
Journal of Cardiovascular Translational Research, 2014
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 2013
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
Kassem HSh et al.
Journal of Cardiovascular Translational Research, 2013
Population-based variation in cardiomyopathy genes.
Golbus JR et al.
Circulation. Cardiovascular Genetics, 2012
Genetic testing for dilated cardiomyopathy in clinical practice.
Lakdawala NK et al.
Journal of Cardiac Failure, 2012
[Link between cardiac myosin binding protein-C gene mutation of Pro1208fs and Gly507 Arg and hypertrophic cardiomyopathy in Chinese patients].
Li M et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2009
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
Van Driest SL et al.
Journal of the American College of Cardiology, 2004
Cardiac myosin binding protein C: its role in physiology and disease.
Flashman E et al.
Circulation Research, 2004
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
Erdmann J et al.
Clinical Genetics, 2003
Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.
Erdmann J et al.
Journal of the American College of Cardiology, 2001
[The molecular basis of familial hypertrophic cardiomyopathy].
Sánchez Cascos A
Revista Espanola De Cardiologia, 1991