Associated Papers
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
Martínez-Barrios E et al.
Human Genetics, 2024
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38370760 (PubMed )
Supplement: media-2.xlsx › Table_S5
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Fazelifar AF et al.
Journal of Arrhythmia, 2023
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O et al.
Journal of Clinical Medicine, 2019
Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.
Park JH et al.
Translational Oncology, 2018
29925043 (PubMed )
Supplement: mmc3.xlsx › Table_7
Recent Advances in Short QT Syndrome.
Campuzano O et al.
Frontiers in Cardiovascular Medicine, 2018
Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.
Wu Y et al.
Forensic Sciences Research, 2017
Gain-of-function KCNH2 mutations in patients with Brugada syndrome.
Wang QI et al.
Journal of Cardiovascular Electrophysiology, 2014
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