Beatriz Ortiz‐Bonnin

POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

R. Schindler, C. Scotton, Jianguo Zhang et al. · Journal of Clinical Investigation · 2015 · 101 citations · Full text

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome

Konstantin Wemhöner, Corinna Friedrich, Birgit Stallmeyer et al. · Journal of Molecular and Cellular Cardiology · 2015 · 92 citations

Channelopathies, Genetics, Molecular Biology +6

Sodium permeable and “hypersensitive” <scp>TREK</scp> ‐1 channels cause ventricular tachycardia

Niels Decher, Beatriz Ortiz‐Bonnin, Corinna Friedrich et al. · EMBO Molecular Medicine · 2017 · 73 citations · Full text

Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations

Beatriz Ortiz‐Bonnin, Susanne Rinné, Robin Moss et al. · Pflügers Archiv - European Journal of Physiology · 2016 · 36 citations

Allelic Variant, Molecular Physiology, Novel Variants +11

POPDC2 a novel susceptibility gene for conduction disorders

Susanne Rinné, Beatriz Ortiz‐Bonnin, Birgit Stallmeyer et al. · Journal of Molecular and Cellular Cardiology · 2020 · 28 citations · Full text

Neurodegenerative Diseases, Disease Mechanism, Genetic Disorder +4