Evidence map›Paper›PMID 41445606›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Mapping the Functional Landscape of

M Lorena Harvey, Ellen Osborn, Megan C Lancaster, Jeremy E Smith, Qianyi Shen, Temidayo Abe, Ruoyi Cai, Ayesha Muhammad, Rose Kannankeril, Tao Yang and 19 more

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

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

29 authors.

M Lorena HarveyDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0009-0008-4752-6081
Ellen OsbornVanderbilt Human Genetics Program, Vanderbilt University, Nashville, TN, USA.
Megan C LancasterDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Jeremy E SmithDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Qianyi ShenMark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia.
Temidayo AbeDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Ruoyi CaiStanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford School of Medicine, Palo Alto, CA, USA.
Ayesha MuhammadDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Rose KannankerilDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Tao YangDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Maria E CalandranisDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Daniel J BlackwellDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Richard E DolderVanderbilt Human Genetics Program, Vanderbilt University, Nashville, TN, USA.
Jessa L AldridgeDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Matthew R FlemingDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Marcia A BlairDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Eduardo SoriaDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Jack W O'SullivanStanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford School of Medicine, Palo Alto, CA, USA.
Giovanni DavogusttoDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Brett M KronckeDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0001-6215-0803
Calum A MacRaeCardiovascular Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Bjorn C KnollmannDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Frederick P RothDepartment of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Victoria N ParikhStanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford School of Medicine, Palo Alto, CA, USA.
Euan A AshleyStanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford School of Medicine, Palo Alto, CA, USA.
Jamie I VandenbergMark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia.ORCID 0000-0002-3859-3716
Chai-Ann NgMark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, Australia.ORCID 0000-0002-3120-5450
Dan M RodenDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-6302-0389
Andrew M GlazerDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Funding

Vanderbilt Clinical Oncology Research Career Development ProgramK12CA090625 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Debra L. Friedman, Paula Jill Hurley · 2001 to 2026
$16.9M
Systematically mapping variant effects for cardiovascular genesR01HL164675 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI ASHLEY, EUAN A, RODEN, DAN M · 2022 to 2025
$8.1M
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
High-throughput discovery of disease-associated ion channel variantsR35GM150465 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Andrew M. Glazer · 2023 to 2026
$1.8M
A pipeline for identifying disease-causing variants in transmembrane proteinsR00HG010904 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GLAZER, ANDREW M. · 2022 to 2024
$737k
A high-throughput, multimodal strategy to improve variant classificationK08HG014001 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Megan Lancaster · 2025 to 2026
$347k
NCI NIH HHS K12 CA090625NHGRI NIH HHS K08 HG014001NHGRI NIH HHS R00 HG010904NHLBI NIH HHS R01 HL160863NHLBI NIH HHS R01 HL164675NIGMS NIH HHS R35 GM150465
6 · The paper itself

Abstract

Loss-of-function variants in

Indexed as

arrhythmiadeep mutational scanningKCNQ1long QT syndromemultiplexed assay of variant effectvariant classificationvariant effect mapvariant of uncertain significance

Identifiers

PMID41445606
PMCPMC12724399

What OpenQuestion holds

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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.