Evidence map›Paper›PMID 39968638›Full record

ArticleCirculation. Genomic and precision medicine2025

Analysis of

Matteo Vatta, Ellen Regalado, Michael Parfenov, Dan Swartzlander, Andrea Nagl, Meghan Mannello, Rachel Lewis, Daniel Clemens, John Garcia, Rachel E Ellsworth and 3 more

Abstract read
In one paragraph

Article in Circulation. Genomic and precision medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Quantitative Histological Insights Into Sudden Arrhythmic Death Syndrome: Findings From a Forensic Autopsy Cohort.APMIS : acta pathologica, microbiologica, et immunologica Scandinavica · 2026
    Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Spectrum and Clinical Interpretation ofInternational journal of molecular sciences · 2025
    Article
  11. Review
  12. Review
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

13 authors.

Matteo Vatta *Labcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA (M.V., E.R., M.P., D.S., A.N., M.M., R.L., D.C., J.G., R.E.E., A.M., Y.-L.T., S.A.).ORCID 0000-0003-0962-8163
Ellen Regalado *Labcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA (M.V., E.R., M.P., D.S., A.N., M.M., R.L., D.C., J.G., R.E.E., A.M., Y.-L.T., S.A.).ORCID 0000-0002-5859-218X
Michael Parfenov *Labcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA (M.V., E.R., M.P., D.S., A.N., M.M., R.L., D.C., J.G., R.E.E., A.M., Y.-L.T., S.A.).
Dan SwartzlanderLabcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA (M.V., E.R., M.P., D.S., A.N., M.M., R.L., D.C., J.G., R.E.E., A.M., Y.-L.T., S.A.).ORCID 0009-0002-7255-3846
Andrea NaglLabcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA (M.V., E.R., M.P., D.S., A.N., M.M., R.L., D.C., J.G., R.E.E., A.M., Y.-L.T., S.A.).
Meghan MannelloLabcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA (M.V., E.R., M.P., D.S., A.N., M.M., R.L., D.C., J.G., R.E.E., A.M., Y.-L.T., S.A.).ORCID 0009-0002-5057-5331
Rachel LewisLabcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA (M.V., E.R., M.P., D.S., A.N., M.M., R.L., D.C., J.G., R.E.E., A.M., Y.-L.T., S.A.).ORCID 0009-0009-3422-0566
Daniel ClemensLabcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA (M.V., E.R., M.P., D.S., A.N., M.M., R.L., D.C., J.G., R.E.E., A.M., Y.-L.T., S.A.).ORCID 0000-0003-2102-5306
John GarciaLabcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA (M.V., E.R., M.P., D.S., A.N., M.M., R.L., D.C., J.G., R.E.E., A.M., Y.-L.T., S.A.).ORCID 0000-0001-6631-4174
Rachel E EllsworthLabcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA (M.V., E.R., M.P., D.S., A.N., M.M., R.L., D.C., J.G., R.E.E., A.M., Y.-L.T., S.A.).ORCID 0000-0003-2287-1635
Ana MoralesLabcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA (M.V., E.R., M.P., D.S., A.N., M.M., R.L., D.C., J.G., R.E.E., A.M., Y.-L.T., S.A.).ORCID 0009-0004-3493-0895
Yi-Lee TingLabcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA (M.V., E.R., M.P., D.S., A.N., M.M., R.L., D.C., J.G., R.E.E., A.M., Y.-L.T., S.A.).ORCID 0009-0003-8353-6707
Swaroop AradhyaLabcorp Genetics Inc (formerly Invitae Corporation), San Francisco, CA (M.V., E.R., M.P., D.S., A.N., M.M., R.L., D.C., J.G., R.E.E., A.M., Y.-L.T., S.A.).ORCID 0000-0001-6219-2931

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTruncating variants (TTNtvs) in the titin (

methodsThis was a retrospective study of probands who underwent multigene testing (49 740 C/A panel, 24 514 NM panel) that included

resultsThere were 2446 (4.9%) C/A and 482 (2.0%) NM cases with 2446 and 528 TTNtv alleles, respectively. TTNtvs in all bands were significantly enriched in both C/A and NM cases compared with controls. A significant enrichment of TTNtvs in C/A was observed for exon 358 of the M-band (odds ratio, 2.55 [95% CI, 1.85-3.54]) but not the other M-band exons.

conclusionsIn the largest single-site cohort of C/A and NM cases with TTNtvs, an enrichment of TTNtvs across

Indexed as

Arrhythmias, CardiacCardiomyopathiesConnectinNeuromuscular DiseasesAllelesExonsFemaleHumansMaleRetrospective StudiesConnectinTTN protein, humanallelesarrhythmias, cardiaccardiomyopathiesexonsneuromuscular diseases

Identifiers

PMID39968638
PMCPMC11999099

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.