Evidence map›Paper›PMID 40166532›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Structural Evaluation of

Kohei Yamauchi, Matthew Ku, Devyn W Mitchell, Alex Shen, Kundivy Dauda, Loren Vanags, Jeffrey Schmeckpeper, Bjorn C Knollmann, Matthew J O'Neill, Brett M Kroncke

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. 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
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Kohei YamauchiDepartment of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Shiga Prefecture, Japan.
Matthew KuDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Devyn W MitchellDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Alex ShenDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Kundivy DaudaDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Loren VanagsDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Jeffrey SchmeckpeperDivision of Cardiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Bjorn C KnollmannDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.
Matthew J O'NeillDepartment of Medicine, Brigham and Women's Hospital, Boston, MA, United States.ORCID 0000-0003-2014-7950
Brett M KronckeDivision of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, United States.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
$2.9M
Aberrant Splicing in the Cardiac ArrhythmiasF30HL163923 · NHLBI · VANDERBILT UNIVERSITY · PI O'NEILL, MATTHEW · 2022 to 2023
$61k
NHLBI NIH HHS F30 HL163923NHLBI NIH HHS R01 HL160863
6 · The paper itself

Abstract

Background: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is strongly associated with rare missense variants in Objective: To improve structural understanding and clinical actionability of Methods: We curated 179 manuscripts reviewed by three individuals to extrapolate Results: From the literature and gnomAD, we identified 1,014 affected missense Conclusions: Bayesian penetrance scores outperform current tools in evaluating variant penetrance. We provide prospective CPVT penetrance values for 29,242

Indexed as

ArrhythmiasCatecholaminergic Polymorphic Ventricular TachycardiaElectrophysiologyPenetranceStatistical Genetics

Identifiers

PMID40166532
PMCPMC11957170

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.