Publications
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“Genetic associations of protein-coding variants in human disease.”, Nature, vol. 603, no. 7899, pp. 95-102, 2022.
“Novel G1481V and Q1491H SCN5A Mutations Linked to Long QT Syndrome Destabilize the Nav1.5 Inactivation State.”, CJC Open, vol. 3, no. 3, pp. 256-266, 2021.
, “Effects of amlodipine and perindoprilate on the structure and function of mitochondria in ventricular cardiomyocytes during ischemia-reperfusion in the pig.”, Fundam Clin Pharmacol, vol. 29, no. 1, pp. 21-30, 2015.
, “The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT.”, Gene, vol. 536, no. 2, pp. 348-56, 2014.
, “Sudden death of cardiac origin and psychotropic drugs.”, Front Pharmacol, vol. 3, p. 76, 2012.
, “Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.”, FEBS Lett, vol. 583, no. 5, pp. 890-6, 2009.
, “Contribution of long-QT syndrome genetic variants in sudden infant death syndrome.”, Pediatr Cardiol, vol. 30, no. 4, pp. 502-9, 2009.
, “A new C-terminal hERG mutation A915fs+47X associated with symptomatic LQT2 and auditory-trigger syncope.”, Heart Rhythm, vol. 5, no. 11, pp. 1577-86, 2008.
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