Last Updated: 09/26/2026
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Found 79 publications
Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome.
Journal: Frontiers in cardiovascular medicine
Published: December 11, 2025
DMPK 3' untranslated repeat expansions in unexplained sudden cardiac death in the young.
Journal: European heart journal
Published: July 23, 2025
Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.
Journal: Circulation. Genomic and precision medicine
Published: April 21, 2025
Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 20, 2025
SUDEP risk is influenced by longevity genomics: a polygenic risk score study.
Journal: EBioMedicine
Published: February 19, 2025
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.
Journal: European heart journal
Published: October 18, 2024
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.
Journal: Journal of the American College of Cardiology
Published: October 03, 2024
Titin-related familial dilated cardiomyopathy: factors associated with disease onset.
Journal: European heart journal
Published: September 18, 2024
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.
Journal: medRxiv : the preprint server for health sciences
Published: August 12, 2024
Last Updated: 09/26/2026