Author
Centre National de la Recherche ScientifiqueORCID 0000-0003-4106-5946Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Alex Lipov, Manon Baudic, Pierre Lindenbaum…·Connie R. Bezzina
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.
Matthew J. O’Neill, Joanne G. Ma, Jessa L. Aldridge…·Chai‐Ann Ng
The paper uses automated patch clamp data to reclassify SCN5A variants in Brugada Syndrome, improving variant classification and penetrance stratification.
Sallouha Krifa, Julien Barc, Nathalie Gaborit…·Nathalie Arquier
The paper uses Drosophila to test if genes near BrS risk loci affect cardiac function, identifying potential candidates for further study.
Anthony F. Herzig, Simone Rubinacci, Gaëlle Marenne…·Olivier Delaneau
SURFBAT approximates transmission-disequilibrium tests using imputed haplotypes to detect genotype-phenotype associations while being robust to population stratification.
Roddy Walsh, John Mauleekoonphairoj, Isabella Mengarelli…·Apichai Khongphatthanayothin
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.
Jorien L. Treur, Anaïs B Thijssen, Dirk J. A. Smit…·Karin J. H. Verweij
This study investigates genetic links between schizophrenia and arrhythmic disorders, finding specific genetic correlations and causal effects on Brugada syndrome and heart rate.