Bibliography
Bibliography
Embedded Files
..New publications to come..
2025
2025
Tuijnenburg F. et al., Long-term prognosis of patients with an SCN5A loss-of-function variant and progressive cardiac conduction disorder or Brugada syndrome, Heart Rythm 2025
Walsh R. et al., A Rare Noncoding Enhancer Variant in SCN5AContributes to the High Prevalence of Brugada Syndrome in Thailand, Circulation 2025
Lukas E. et al., Causal inference in the field of arrhythmia: An introduction to mendelian randomization, Heart Rythm 2025
2024
2024
Bezzina C. et al., Top stories on genome-wide association studies, Heart Rythm 2024
Baudic M. et al., TAD boundary deletion causes PITX2-related cardiac electrical and structural defects, Nat Commun. 2024
Ishikawa T. et al., Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci, Eur. Heart Journal 2024
State of the art
State of the art
2022
Barc, J. et al., Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility, Nat Genet 2022
Barc, J. et al., Sex matters? Sex matters!, Cardiovasc Res 2022
2021
Man, J. C. K. et al., Variant Intronic Enhancer Controls SCN10A-shortExpression and Heart Conduction, Circulation 2021
2019
Tadros, R. et al., Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores, Eur Heart J 2019
Man, J. C. K. et al., An enhancer cluster controls gene activity and topology of the SCN5A-SCN10A locus in vivo, Nat Commun. 2019
2015
Le Scouarnec, S. et al., Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome, Hum. Mol. Genet. 2015
Perret, P. et al., Biodistribution, Stability, and Blood Distribution of the Cell Penetrating Peptide Maurocalcine in Mice, Int J Mol Sci 2015
2014
Van den Boogaard, M. et al., A common genetic variant within SCN10A modulates cardiac SCN5A expression, JCI 2014
2013
Bezzina, C. R. et al., Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death, Nat. Genet. 2013
2009
Probst, V. et al., SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome, Circ Cardiovasc Genet. 2009
Other Media
Other Media
🗨️ Julien BARC, coordinator of the NaV1.5-CARED has been interviewed to give some advices to the French researchers on the EIC Pathfinder program:
🗨️ The NaV1.5-CARED project participated to the first in-person meeting of the Cardiogenomics Portfolio in Brussels:
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