ArticleJournal of clinical medicine2019
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Article in Journal of clinical medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Differences in Short QT Syndrome Subtypes: A Systematic Literature Review and Pooled Analysis.Frontiers in genetics · 2019Pooled it
- Repurposing polyamines to prevent life-threatening arrhythmias in Short QT Syndrome type 3.Nature communications · 2026Article
- Beyond Quinidine: Clinical Lessons From a Child With Short QT Syndrome and Refractory Electrical Storm.JACC. Case reports · 2026Article
- Discovery of Small-Molecule Inhibitors of the KCNQ1/Kv7.1 Potassium Channel with Virtual Screening and Functional Validation in Electrophysiological Assays and KCNQ1-Knockout Neural Stem Cells.ACS chemical neuroscience · 2026Article
- When targeted gene testing falls short: Case report of a novelHeartRhythm case reports · 2026Article
- Biphasic effects on human atrial arrhythmogenicity of L-type calcium channel mutations associated with a Brugada/Short QT overlap syndrome - insights from a multiscale simulation study.PLoS computational biology · 2025Article
- The Genetic Basis of Sudden Cardiac Death: From Diagnosis to Emerging Genetic Therapies.Annual review of medicine · 2025Review
- Alleviating the Effects of Short QT Syndrome Type 3 by Allele-Specific Suppression of theInternational journal of molecular sciences · 2024Article
- Article
- Review
- Development of an Absolute Quantification Method for hERG Using PRM with Single Isotopologue in-Sample Calibration.ACS omega · 2024Article
- The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3.Cardiovascular research · 2024Article
- Human Genetics of Cardiac Arrhythmias.Advances in experimental medicine and biology · 2024Review
- Inhibition of the hERG Potassium Channel by a Methanesulphonate-Free E-4031 Analogue.Pharmaceuticals (Basel, Switzerland) · 2023Article
- Molecular autopsy in sudden cardiac death.Global cardiology science & practice · 2023Review
- Predictive genomic tools in disease stratification and targeted prevention: a recent update in personalized therapy advancements.The EPMA journal · 2022Review
- Lipopolysaccharide Modifies Sodium Current Kinetics through ROS and PKC Signalling in Induced Pluripotent Stem-Derived Cardiomyocytes from Brugada Syndrome Patient.Journal of cardiovascular development and disease · 2022Article
- Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.Biomedicines · 2022Review
- Article
- Deciphering the pathogenic role of a variant with uncertain significance for short QT and Brugada syndromes using gene-edited human-induced pluripotent stem cell-derived cardiomyocytes and preclinical drug screening.Clinical and translational medicine · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 3 institutions in 1 country.
Funding
Abstract
Short QT syndrome, one of the most lethal entities associated with sudden cardiac death, is a rare genetic disease characterized by short QT intervals detected by electrocardiogram. Several genetic variants are causally linked to the disease, but there has yet to be a comprehensive analysis of variants among patients with short QT syndrome. To fill this gap, we performed an exhaustive study of variants currently catalogued as deleterious in short QT syndrome according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Analysis of the 32 variants described in the literature determined that only nine (28.12%) have a conclusive pathogenic role. All definitively pathogenic variants are located in
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.