Rafik Tadros

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

Evaluation of polygenic score for hypertrophic cardiomyopathy in the general population and across clinical settings

This study evaluates polygenic scores for hypertrophic cardiomyopathy (HCM) in the general population and clinical settings, showing increased risk with higher scores and potential for clinical application.

A rare non-coding enhancer variant in SCN5A contributes to the high prevalence of Brugada syndrome in Thailand

The paper identifies a rare non-coding enhancer variant in SCN5A associated with Brugada syndrome in Thailand, showing it disrupts a transcription factor binding site and reduces sodium current.

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.

Associations of schizophrenia with arrhythmic disorders and electrocardiogram traits: an in-depth genetic exploration of population samples

This study investigates genetic links between schizophrenia and arrhythmic disorders, finding specific genetic correlations and causal effects on Brugada syndrome and heart rate.

Exploring the relationship between schizophrenia and cardiovascular disease: A genetic correlation and multivariable Mendelian randomization study

This study investigates genetic correlations and bidirectional effects between schizophrenia and cardiovascular disease, finding schizophrenia increases heart failure risk and early repolarization risk.

Comparison of polygenic risk scores for coronary artery disease highlights obstacles to overcome for clinical use

This paper compares three polygenic risk scores for coronary artery disease and identifies issues with their clinical use due to population structure confounding and missing data effects.