Evidence map›Paper›PMID 39355877›Full record

ArticleAnnals of laboratory medicine2025

Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic

Silvia Caroselli, Marco Fabiani, Caterina Micolonghi, Camilla Savio, Giacomo Tini, Beatrice Musumeci, Erika Pagannone, Aldo Germani, Fabio Libi, Vincenzo Visco and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of laboratory medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. A Novel PathogenicAnnals of laboratory medicine · 2026
    Article
  3. UniqueAnnals of laboratory medicine · 2026
    Article
  4. Article
  5. Article
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

15 authors.

Silvia CaroselliDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0009-0009-2496-6647
Marco FabianiDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0000-0002-8763-0114
Caterina MicolonghiDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0000-0002-4275-0032
Camilla SavioSant'Andrea University Hospital, Rome, Italy.ORCID https://orcid.org/0009-0005-5944-2588
Giacomo TiniDepartment of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0000-0001-8520-152X
Beatrice MusumeciDepartment of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0000-0003-4872-7981
Erika PagannoneSant'Andrea University Hospital, Rome, Italy.ORCID https://orcid.org/0009-0008-4695-9440
Aldo GermaniDepartment of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0000-0001-5108-3924
Fabio LibiSant'Andrea University Hospital, Rome, Italy.ORCID https://orcid.org/0000-0002-4954-0791
Vincenzo ViscoSant'Andrea University Hospital, Rome, Italy.ORCID https://orcid.org/0000-0001-5067-3121
Antonio PizzutiDepartment of Experimental Medicine, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0000-0003-3245-1925
Camillo AutoreSan Raffaele Cassino, Cassino, Italy.ORCID https://orcid.org/0000-0002-6542-7342
Simona PetrucciSant'Andrea University Hospital, Rome, Italy.ORCID https://orcid.org/0000-0003-3400-4547
Speranza RubattuDepartment of Clinical and Molecular Medicine, Sapienza University of Rome, Rome, Italy.ORCID https://orcid.org/0000-0002-9808-7970
Maria PianeSant'Andrea University Hospital, Rome, Italy.ORCID https://orcid.org/0000-0001-8569-247X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypertrophic cardiomyopathy (HCM) is a genetic cardiac muscle disease characterized by clinical and genetic heterogeneity. Genetic testing can reveal the presence of disease-causing variants in genes encoding sarcomere proteins. However, it yields inconclusive or negative results in 40-60% of HCM cases, owing to, among other causes, technical limitations such as the inability to detect pathogenic intronic variants. Therefore, we aimed to increase the diagnostic yield of molecular analysis for HCM by improving the

Indexed as

Cardiomyopathy, HypertrophicCarrier ProteinsHigh-Throughput Nucleotide SequencingAdultAgedCohort StudiesExonsFemaleGenetic TestingHumansIntronsItalyMaleMiddle AgedMutationMyosin Binding Protein CCarrier ProteinsMyosin Binding Protein CHigh-throughput nucleotide sequencingHypertrophic cardiomyopathyIntronsLoss of function mutationRNA splicing

Identifiers

PMID39355877
PMCPMC11609707

What OpenQuestion holds

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Registered trials

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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.