Associated Papers
Cardiomyopathy-associated and basic residue mutations in myopalladin alter actin binding, bundling, and structural stability.
Arachchige AR et al.
Protein Science : a Publication of the Protein Society, 2026
Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathies.
Temena MA et al.
Scientific Reports, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.
Kasmi Z et al.
Immunologic Research, 2025
Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.
Jaouadi H et al.
Frontiers in Medicine, 2024
Associations of MYPN, TTN, SCN5A, MYO6 and ELN Mutations With Arrhythmias and Subsequent Sudden Cardiac Death: A Case Report of an Ecuadorian Individual.
Paz-Cruz E et al.
Cardiology Research, 2023
An explainable model of host genetic interactions linked to COVID-19 severity.
Onoja A et al.
Communications Biology, 2022
Myosins and MyomiR Network in Patients with Obstructive Hypertrophic Cardiomyopathy.
Foglieni C et al.
Biomedicines, 2022
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Mitochondrial Energetics and Ca2+-Activated ATPase in Obstructive Hypertrophic Cardiomyopathy.
Lombardi M et al.
Journal of Clinical Medicine, 2020
Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy.
Mastroianno S et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.
Jääskeläinen P et al.
Esc Heart Failure, 2019
Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases.
Refaat MM et al.
Bmc Medical Genomics, 2019
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 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
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Walsh R et al.
European Heart Journal, 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
Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.
Nouhravesh N et al.
Molecular Genetics & Genomic Medicine, 2016
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
Meyer T et al.
European Journal of Human Genetics : Ejhg, 2013
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
Purevjav E et al.
Human Molecular Genetics, 2012
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Norton N et al.
Circulation. Cardiovascular Genetics, 2012
Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.
Bagnall RD et al.
International Journal of Cardiology, 2010
Cytoplasmic Ig-domain proteins: cytoskeletal regulators with a role in human disease.
Otey CA et al.
Cell Motility and the Cytoskeleton, 2009
Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.
Duboscq-Bidot L et al.
Cardiovascular Research, 2008