22 results on '"Bezzina C."'
Search Results
2. The role of MAPRE2 and microtubules in Brugada syndrome pathogenesis
3. Large-scale genetic and multi-omics analyses identify molecular pathways underlying dilated cardiomyopathy
4. Population-specific and cross-ancestry genome-wide association study identifies shared genetic architecture and 6 new risk loci including CAMK2D associated for Brugada syndrome
5. Polygenic risk score for hypertrophic cardiomyopathy predicts population disease risk, penetrance in sarcomeric rare variant carriers and survival in cases
6. Assessment of multi-trait analysis of GWAS (MTAG) for discovery of novel genetic variants and mechanistic insight in common cardiovascular diseases
7. Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies
8. A non-coding SCN5A variant that reduces sodium channel function in hiPSC-derived cardiomyocytes is significantly enriched in Brugada syndrome patients from Thailand
9. New risk predictor of arrhythmias in patients with congenital Long-QT Syndrome
10. Common genetic variants improve risk stratification after atrial switch operation for transposition of the great arteries
11. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of 5182 cases from long QT syndrome and Brugada syndrome consortia cohorts and gnomAD population controls
12. Genome-wide association study identifies 18 new susceptibility variants loci associated with Brugada Syndrome
13. The genetic architecture of left ventricular non-compaction reveals both substantial overlap with other cardiomyopathies and a distinct aetiology in a subset of cases
14. Characterisation of familial idiopathic ventricular fibrillation linked to DPP6
15. A proteomic approach identifies myoferlin as a novel interacting partner of the cardiac sodium channel
16. Multiple QTL mapping of cardiac collagen deposition in an F2 population of Scn5a mutant mice reveals interaction between Fgf1 and Pdlim3, Gpr158 & Itga6
17. Expression Quantitative Trait Locus (eQTL) analysis in human heart for elucidation of causal genes at loci identified in genome-wide association studies
18. Novel HCN4 mutations in families with bradycardia and hypertrabeculation of the myocardium
19. Exome sequencing of multiple affected individuals from an Irish family with Brugada Syndrome uncovers a novel locus for the disorder
20. Delayed AV-conduction in pressure-overloaded Scn5a-1798insD+/- mice rescued by genetic deletion of the calcium-dependent transcription factor Nfatc2
21. Mutations in the SCN5A promoter associated with Brugada syndrome
22. A mutation in CALM1 encoding calmodulin causes sudden cardiac death in childhood and adolescence
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