In one paragraphArticle in Circulation. Genomic and precision medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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.
2 · The registryThe 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.
3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
11 authors.
Kundivy Dauda *Division of Genetic Medicine and Clinical Pharmacology, Department of Medicine (K.D., M.K., D.W.M., A.S., L.V., B.C.K., B.M.K.).ORCID 0000-0003-1360-7939 Kohei Yamauchi *Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan (K.Y.).ORCID 0009-0004-0348-2305 Matthew Ku *Division of Genetic Medicine and Clinical Pharmacology, Department of Medicine (K.D., M.K., D.W.M., A.S., L.V., B.C.K., B.M.K.).
Devyn W MitchellDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine (K.D., M.K., D.W.M., A.S., L.V., B.C.K., B.M.K.).ORCID 0000-0001-8508-3324 Alex ShenDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine (K.D., M.K., D.W.M., A.S., L.V., B.C.K., B.M.K.).ORCID 0009-0001-8430-8357 Loren VanagsDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine (K.D., M.K., D.W.M., A.S., L.V., B.C.K., B.M.K.).ORCID 0009-0003-5950-2777 Jeffrey SchmeckpeperDivision of Cardiology, Department of Medicine (J.S.), Monroe Carell Jr. Children's Hospital at Vanderbilt, Vanderbilt University Medical Center, Nashville, TN.ORCID 0000-0001-9437-5871 Prince J KannankerilDepartment of Pediatrics (P.J.K.), Monroe Carell Jr. Children's Hospital at Vanderbilt, Vanderbilt University Medical Center, Nashville, TN.ORCID 0000-0002-1529-9872 Bjorn C KnollmannDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine (K.D., M.K., D.W.M., A.S., L.V., B.C.K., B.M.K.).ORCID 0000-0003-4956-9735 Matthew J O'NeillDepartment of Medicine, Brigham and Women's Hospital, Boston, MA (M.J.O.).
Brett M KronckeDivision of Genetic Medicine and Clinical Pharmacology, Department of Medicine (K.D., M.K., D.W.M., A.S., L.V., B.C.K., B.M.K.).ORCID 0000-0001-6215-0803 Funding
Integrating KCNH2 Variant-Specific Features and Heterozygote Phenotypes to Estimate Long QT PenetranceR01HL160863 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Brett M Kroncke · 2022 to 2026
$2.9MAberrant Splicing in the Cardiac ArrhythmiasF30HL163923 · NHLBI · VANDERBILT UNIVERSITY · PI O'NEILL, MATTHEW · 2022 to 2023
$61kNHLBI NIH HHS F30 HL163923NHLBI NIH HHS R01 HL160863
6 · The paper itselfAbstract
backgroundCatecholaminergic polymorphic ventricular tachycardia (CPVT) is strongly associated with rare missense variants in
methodsWe curated 179 articles reviewed by 3 individuals to extrapolate
resultsFrom the literature, we identified 1014 affected missense
conclusionsTraditional categorical variant annotations limit accurate disease risk assessment, especially in populations unascertained for disease. A probabilistic, population-calibrated penetrance framework enables more meaningful prospective variant interpretation. Our Bayesian CPVT-prior outperforms current tools in evaluating RYR2 variant penetrance. We provide prospective Bayesian CPVT penetrance values for 29 242 RYR2 missense variants at our online variant browser.
Indexed as
Mutation, MissensePenetranceRyanodine Receptor Calcium Release ChannelTachycardia, VentricularBayes TheoremHeterozygoteHumansPolymorphic Catecholaminergic Ventricular TachycardiaRyanodine Receptor Calcium Release ChannelRyR2 protein, humancalciumcounselorsheterozygotespenetrancesarcoplasmic reticulum
Identifiers
PMID41889371
PMCPMC13108506
What OpenQuestion holds
Textmetadata
LicenceTDM
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