Associated Papers
Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.
Noureddine M et al.
The Journal of General Physiology, 2025
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
A novel frameshift ACTN2 variant causes a rare adult-onset distal myopathy with multi-minicores.
Chen L et al.
Cns Neuroscience & Therapeutics, 2021
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy.
Good JM et al.
Heartrhythm Case Reports, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Lornage X et al.
Acta Neuropathologica, 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
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Walsh R et al.
European Heart Journal, 2017
Using high-resolution variant frequencies to empower clinical genome interpretation.
Whiffin N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
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
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 2015
The actinin family of actin cross-linking proteins - a genetic perspective.
Murphy AC et al.
Cell & Bioscience, 2015
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
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.
Chiu C et al.
Journal of the American College of Cardiology, 2010
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.
Theis JL et al.
Biochemical and Biophysical Research Communications, 2006