Associated Papers
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
Ranta-Aho J et al.
Annals of Clinical and Translational Neurology, 2024
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
Ranta-Aho J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Postmortem genetic testing in sudden unexplained death: A public health laboratory experience.
Rohrer CT et al.
Journal of Forensic Sciences, 2023
Mutation update for the ACTN2 gene.
Ranta-Aho J et al.
Human Mutation, 2022
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
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 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
Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia.
Fan LL et al.
Cytogenetic and Genome Research, 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
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S 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