Evidence map›Paper›PMID 38254922›Full record

ArticleGenes2023

A Novel Homozygous Loss-of-Function Variant in

Maria Elena Onore, Martina Caiazza, Antonella Farina, Gioacchino Scarano, Alberto Budillon, Rossella Nicoletta Borrelli, Giuseppe Limongelli, Vincenzo Nigro, Giulio Piluso

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.5field-weighted citation impact, top 32% of its field
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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. 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

9 authors at 2 institutions in 2 countries.

Maria Elena OnoreDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.ORCID 0000-0001-8329-0215
Martina CaiazzaInherited and Rare Cardiovascular Diseases Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Monaldi Hospital, 80131 Naples, Italy.ORCID 0000-0003-3805-4170
Antonella FarinaDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Gioacchino ScaranoInherited and Rare Cardiovascular Diseases Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Monaldi Hospital, 80131 Naples, Italy.ORCID 0000-0001-5477-0711
Alberto BudillonDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.ORCID 0009-0006-0889-4784
Rossella Nicoletta BorrelliDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Giuseppe LimongelliInherited and Rare Cardiovascular Diseases Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Monaldi Hospital, 80131 Naples, Italy.ORCID 0000-0002-8291-9517
Vincenzo NigroDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Giulio PilusoDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.ORCID 0000-0001-9418-125X
University of Campania "Luigi Vanvitelli" · ITSt Bartholomew's Hospital · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Noonan syndrome is an autosomal dominant developmental disorder characterized by peculiar facial dysmorphisms, short stature, congenital heart defects, and hypertrophic cardiomyopathy. In 2001,

Indexed as

Cardiomyopathy, HypertrophicDwarfismNoonan SyndromeCausalityExonsHumansInfantRepressor ProteinsTranscription FactorsLZTR1 protein, humanRepressor ProteinsSPRED2 protein, humanTranscription Factorsautosomal recessive inheritanceNoonan syndromeRASopathiesSPRED2

Identifiers

PMID38254922
PMCPMC10815364
OpenAlexW4390196740

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.