Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S11._Variants_LD_check
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.
Hespe S et al.
Journal of the American College of Cardiology, 2025
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.
Hespe S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy.
Nielsen SK et al.
Jacc. Advances, 2023
38938358 (PubMed )
Supplement: mmc1.docx
FHODs: Nuclear tethered formins for nuclear mechanotransduction.
Antoku S et al.
Frontiers in Cell and Developmental Biology, 2023
Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.
Walsh R et al.
Nature Reviews. Cardiology, 2022
Variant Spectrum of Formin Homology 2 Domain-Containing 3 Gene in Chinese Patients With Hypertrophic Cardiomyopathy.
Wu G et al.
Journal of the American Heart Association, 2021
Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.
Ochoa JP et al.
Clinical Genetics, 2020
Exome sequencing identifies a FHOD3 p.S527del mutation in a Chinese family with hypertrophic cardiomyopathy.
Huang S et al.
The Journal of Gene Medicine, 2020
Reply: Revisiting Genome Sequencing Data in Light of Novel Disease Gene Associations.
Ochoa JP et al.
Journal of the American College of Cardiology, 2019
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
Ochoa JP et al.
Journal of the American College of Cardiology, 2018
Formins Emerge as a Cause of Hypertrophic Cardiomyopathy: New Genes for Thick Hearts.
Pinto YM et al.
Journal of the American College of Cardiology, 2018
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