Stéphanie Chatel

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Connie R. Bezzina, Julien Barc, Yuka Mizusawa et al. · Nature Genetics · 2013 · 540 citations · Full text

Cardiomyopathy, Genetic Disorder, Genetics +9

Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/K_ATP Channel

Michel Haı̈ssaguerre, Stéphanie Chatel, Frédéric Sacher et al. · Journal of Cardiovascular Electrophysiology · 2008 · 283 citations

Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel

Hui Liu, Stéphanie Chatel, Christophe Simard et al. · PLoS ONE · 2013 · 162 citations · Full text

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

Solena Le Scouarnec, Matilde Karakachoff, Jean‐Baptiste Gourraud et al. · Human Molecular Genetics · 2015 · 135 citations · Full text

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Estelle Colin, Jens Daniel, Alban Ziegler et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Molecular Neuroscience, Mendelian Disorder, Biallelic Variants +11