Evidence map›Paper›PMID 42238220›Full record

ArticleJournal of precision medicine (Amsterdam, Netherlands)2025

Evaluating Pathogenicity of

Saiti S Halder, Jenette G Bellitto, Michael J Rynkiewicz, Fanny Cheung, Darren Liu, Ilayda Firlar, Alfredo Bongiorno, Meaghan E Barry, Lorenzo R Sewanan, Jeffrey R Moore and 2 more

Abstract read
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In one paragraph

Article in Journal of precision medicine (Amsterdam, Netherlands), 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

12 authors.

Saiti S HalderDepartment of Biomedical Engineering, Yale University.
Jenette G BellittoDepartment of Biomedical Engineering, Yale University.
Michael J RynkiewiczDepartment of Pharmacology, Physiology, & Biophysics, Boston University Chobanian & Avedisian School of Medicine.
Fanny CheungDepartment of Biomedical Engineering, Yale University.
Darren LiuDepartment of Pharmacology, Physiology, & Biophysics, Boston University Chobanian & Avedisian School of Medicine.
Ilayda FirlarDepartment of Biological Sciences, University of Massachusetts Lowell.
Alfredo BongiornoDepartment of Biological Sciences, University of Massachusetts Lowell.
Meaghan E BarryDepartment of Biological Sciences, University of Massachusetts Lowell.
Lorenzo R SewananDepartment of Biomedical Engineering, Yale University.
Jeffrey R MooreDepartment of Biological Sciences, University of Massachusetts Lowell.
William LehmanDepartment of Pharmacology, Physiology, & Biophysics, Boston University Chobanian & Avedisian School of Medicine.
Stuart G CampbellDepartment of Biomedical Engineering, Yale University.

Funding

THIN FILAMENTS AND VERTEBRATE SMOOTH MUSCLE CONTRACTIONR01HL036153 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI William J Lehman · 1986 to 2026
$6.5M
Revealing Pathomechanisms of Mutant TPM1 Through a Hybrid Computational-Experimental ApproachR01HL136590 · NHLBI · YALE UNIVERSITY · PI STUART G CAMPBELL, William J Lehman · 2017 to 2026
$5.6M
NHLBI NIH HHS R01 HL036153NHLBI NIH HHS R01 HL136590
6 · The paper itself

Abstract

backgroundVariants of unknown significance (VUS) pose a barrier to cascade genetic screening in families affected by inherited cardiomyopathies. Here, we investigate scalable computational methods for assessing pathogenicity of

methodsTwenty

resultsThe

conclusionsBy showing that large molecular aberrations predicted by thin filament structural models translate into meaningful functional changes (as benchmarked against clinically pathogenic mutations), this study supports the feasibility of

Identifiers

PMID42238220
PMCPMC13229572

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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.