Associated Papers
FHOD3 deficiency disrupts sarcomere organization and activates caMKII signaling in human stem cell-derived cardiomyocytes.
Wei M et al.
Stem Cell Research & Therapy, 2026
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Navigating The Complex Path From Monogenic to Polygenic Clinical Genetic Testing in Hypertrophic Cardiomyopathy.
Walsh R
Jacc. Heart Failure, 2024
The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum.
Mukhopadhyay S et al.
Journal of Cardiovascular Translational Research, 2024
Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.
d'Apolito M et al.
Genes, 2024
39062601 (PubMed )
Supplement: genes-15-00822-s001.zip › genes-3033278-supplementary.pdf
Novel Multiplexed Plasma Biomarker Panel Has Diagnostic and Prognostic Potential in Children With Hypertrophic Cardiomyopathy.
Captur G et al.
Circulation. Genomic and Precision Medicine, 2024
38847081 (PubMed )
Supplement: hcg-17-e004448-s001.pdf
Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers.
Piqueras-Flores J et al.
Journal of Medical Genetics, 2024
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
39554508 (PubMed )
Supplement: Table_2.XLSX › FHOD3
Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome) due to p.Arg302Gln mutation.
Rodríguez Ortuño J et al.
Medicina Clinica, 2022
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM4_ESM.xlsx › ST11
Sequence variants with large effects on cardiac electrophysiology and disease.
Norland K et al.
Nature Communications, 2019
31641117 (PubMed )
Supplement: 41467_2019_12682_MOESM17_ESM.xlsx › Sheet1
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Norrish G et al.
Circulation, 2019
31006259 (PubMed )
Supplement: cir-140-184-s001.pdf
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