Evidence map›Paper›PMID 39858609›Full record

ReviewGenes2025

Expanding the Molecular Spectrum of

Domizia Pasquetti, Paola Tesolin, Federica Perino, Stefania Zampieri, Marco Bobbo, Thomas Caiffa, Beatrice Spedicati, Giorgia Girotto

Abstract readReview
In one paragraph

Review in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
–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

3 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. 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

8 authors.

Domizia PasquettiInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0002-8220-3420
Paola TesolinInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0002-5238-6422
Federica PerinoDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.
Stefania ZampieriInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
Marco BobboInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0001-7105-0409
Thomas CaiffaInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
Beatrice SpedicatiInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0002-7432-4708
Giorgia GirottoInstitute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0003-4507-6589

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesThe failure of physiological left-right (LR) patterning, a critical embryological process responsible for establishing the asymmetric positioning of internal organs, leads to a spectrum of congenital abnormalities characterized by laterality defects, collectively known as "heterotaxy".

methodsPatients harboring biallelic

resultsA total of 18

conclusionsOur comprehensive analysis of

Indexed as

Heart Defects, CongenitalHeterotaxy SyndromeMatrix Metalloproteinases, SecretedMutation, MissenseChildExome SequencingFemaleGenetic Association StudiesHumansMalePhenotypeMatrix Metalloproteinases, SecretedCongenital Heart DefectsHeterotaxyMMP21

Identifiers

PMID39858609
PMCPMC11764533

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.