Associated Papers
Missense variants in phospholamban and cardiac myosin binding protein identified in patients with a family history and clinical diagnosis of dilated cardiomyopathy.
Armanious GP et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 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
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
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 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
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Identification of NCAN as a candidate gene for developmental dyslexia.
Einarsdottir E et al.
Scientific Reports, 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
Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.
Zaragoza MV et al.
Plos One, 2016
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Annals of Medicine, 2014
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
Kapplinger JD et al.
Journal of Cardiovascular Translational Research, 2014
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
Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population.
Brito D 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, 2012
Population-based variation in cardiomyopathy genes.
Golbus JR et al.
Circulation. Cardiovascular Genetics, 2012
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.
Fokstuen S et al.
Journal of Medical Genetics, 2011
[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
Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.
Andersen PS et al.
Human Mutation, 2009
Shared genetic causes of cardiac hypertrophy in children and adults.
Morita H et al.
The New England Journal of Medicine, 2008
Familial and sporadic hypertrophic myopathy: differences and similarities in a genotyped population. A long follow-up study.
Brito D 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, 2008
[Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene].
Zou YB et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2006
[A frame shift mutation, Arg346fs mutation, is identified in cardiac myosin-binding protein C gene in a Chinese family with hypertrophic cardiomyopathy].
Xie WL et al.
Zhonghua Yi Xue Za Zhi, 2005
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
Van Driest SL et al.
Journal of the American College of Cardiology, 2004
Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
Andersen PS et al.
European Journal of Human Genetics : Ejhg, 2004
Myosin binding protein C: structural abnormalities in familial hypertrophic cardiomyopathy.
Oakley CE et al.
Cell Research, 2004
Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties.
Keller DI et al.
Journal of Molecular and Cellular Cardiology, 2004
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Richard P et al.
Circulation, 2003
A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.
Konno T et al.
Journal of the American College of Cardiology, 2003
Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations.
Moolman-Smook J et al.
Circulation Research, 2002
Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.
Jääskeläinen P et al.
Journal of Molecular Medicine (berlin, Germany), 2002
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
Moolman-Smook JC et al.
American Journal of Human Genetics, 1999
[Sarcomere gene mutations--a cause of hypertrophic cardiomyopathy].
Kuusisto J et al.
Duodecim; Laaketieteellinen Aikakauskirja, 1999
[Genomic study of the hereditary pathology and genetic diversity of the Siberian population].
Puzyrev VP et al.
Molekuliarnaia Biologiia, 0
Mutation of V896M in cardiac myosin binding protein-c gene in two Chinese families with hypertrophic cardiomyopathy.
Wang AL et al.
Molecular Medicine Reports, 0