Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling.
Lindholm ME et al.
Frontiers in Cardiovascular Medicine, 2025
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review.
Cianci V et al.
International Journal of Molecular Sciences, 2024
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Young WJ et al.
Nature Communications, 2022
A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.
Park J et al.
Human Molecular Genetics, 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 contributions to the expression of acquired causes of cardiac hypertrophy in non-ischemic sudden cardiac death victims.
Holmström L et al.
Scientific Reports, 2021
P62-positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy.
van der Klooster ZJ et al.
Journal of Cellular and Molecular Medicine, 2021
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Norrish G et al.
Circulation, 2019
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases.
Nicora G et al.
Human Mutation, 2018
Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural Disorders.
Junttila MJ et al.
Circulation, 2018
Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.
Dejgaard LA et al.
Data in Brief, 2017
Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation.
Furqan A et al.
Circulation. Cardiovascular Genetics, 2017
Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis.
Dewar LJ et al.
Circulation. Cardiovascular Genetics, 2017
Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.
Aurensanz Clemente E et al.
Clinical Case Reports, 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
Phenotype-driven molecular autopsy for sudden cardiac death.
Cann F et al.
Clinical Genetics, 2017
Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders.
Celestino-Soper PB et al.
Frontiers in Cardiovascular Medicine, 2017
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.
Adler A et al.
Circulation. Arrhythmia and Electrophysiology, 2016
Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group.
Glotov AS et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.
Coppini R et al.
Journal of the American College of Cardiology, 2014
Genetics of hypertrophic cardiomyopathy in Norway.
Berge KE et al.
Clinical Genetics, 2014
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
Merlo M et al.
Clinical and Translational Science, 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
Increased amount of interstitial fibrosis predicts ventricular arrhythmias, and is associated with reduced myocardial septal function in patients with obstructive hypertrophic cardiomyopathy.
Almaas VM et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2013
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Lopes LR et al.
Journal of Medical Genetics, 2013
Population-based variation in cardiomyopathy genes.
Golbus JR et al.
Circulation. Cardiovascular Genetics, 2012
Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases.
Allegue C et al.
International Journal of Legal Medicine, 2011
Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.
Gruner C et al.
Circulation. Cardiovascular Genetics, 2011
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study.
Morita H et al.
Circulation, 2006
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.
Millat G et al.
European Journal of Medical Genetics, 0
Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy.
Broch K et al.
Open Heart, 0