Associated Papers
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genetic Testing in Brugada Syndrome: A 30-Year Experience.
Pannone L et al.
Circulation. Arrhythmia and Electrophysiology, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
Genetics and Autoimmunity: Two Sides of the Same Coin or an Epiphenomenon?
Chatterjee R et al.
Mediterranean Journal of Rheumatology, 2022
Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome.
Gray B et al.
Circulation. Genomic and Precision Medicine, 2022
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
Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases.
Roos A et al.
Methods in Molecular Biology (clifton, N.j.), 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Minoche AE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Inter-individual gene variants associated with trabecular bone plasticity: A step forward in the personal genomics of degenerative bone disease.
Caso E et al.
Injury, 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
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Mademont-Soler I et al.
Plos One, 2017
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
Cecconi M et al.
International Journal of Molecular Medicine, 2016
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
Rubattu S et al.
International Journal of Molecular Sciences, 2016
Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.
Sevy A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
CAV3 gene sequence variations: National Genome Database and clinics.
Stavusis J et al.
Acta Neurologica Scandinavica, 2015
Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.
Andreasen C et al.
The Canadian Journal of Cardiology, 2013
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Lopes LR et al.
Journal of Medical Genetics, 2013
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
Caveolinopathies: from the biology of caveolin-3 to human diseases.
Gazzerro E et al.
European Journal of Human Genetics : Ejhg, 2010
Rippling muscle disease: variable phenotype in a family with five afflicted members.
Jacobi C et al.
Muscle & Nerve, 2010
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
Catteruccia M et al.
Neuromuscular Disorders : Nmd, 2009
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
Vatta M et al.
Circulation, 2006