ReviewCurrent opinion in genetics & development2022
Genetics of congenital arrhythmia syndromes: the challenge of variant interpretation.
Review in Current opinion in genetics & development, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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
6 citing papers in PubMed, 9 citations in OpenAlex.
- DENND3-p.R534S disrupts dyadic microdomain architecture to drive potentially pro-arrhythmic calcium and electrophysiologic instability.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Article
- A combined genomic arrhythmia propensity score delineates cumulative risk.Cell reports. Medicine · 2025Article
- ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants.Nature communications · 2024Article
- ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease.Genome medicine · 2024Article
- Review
- Evolving cardiovascular genetic counseling needs in the era of precision medicine.Frontiers in cardiovascular medicine · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Congenital arrhythmia syndromes are rare genetic disorders that can cause a high risk of sudden cardiac death. Expert panels have affirmed 15 genes that are linked to congenital arrhythmias. These genes mostly encode cardiac ion channel proteins or associated regulatory proteins that generate the cardiac action potential. Common genetic variation modulates the risk of rare variants and partially explains the incomplete penetrance of these disorders. As genetic testing becomes more prevalent, a major challenge is that most detected variants are annotated as variants of uncertain significance. This review will highlight emerging methods that are refining our understanding of arrhythmia genetics, including phenotype risk scores, large cohorts, in vitro functional assays, structural models, and computational predictions.
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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.