Evidence map›Paper›PMID 37239476›Full record

ArticleGenes2023

New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients.

Alessandro De Falco, Achille Iolascon, Flora Ascione, Carmelo Piscopo

Open access · goldAbstract readCase Reports
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 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 31% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Article
  2. 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

4 authors at 2 institutions in 1 country.

Alessandro De FalcoU.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy.ORCID 0000-0003-1569-1556
Achille IolasconU.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy.ORCID 0000-0002-9558-0356
Flora AscioneHospital Directorate, A.O.R.N. "Antonio Cardarelli", 80100 Naples, Italy.
Carmelo PiscopoMedical and Laboratory Genetics Unit, A.O.R.N. "Antonio Cardarelli", 80100 Naples, Italy.
Federico II University Hospital · ITOspedale Antonio Cardarelli · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss of a critical genomic region of approximately 750kb and includes several genes, such as

Indexed as

Intellectual DisabilityNeurodevelopmental DisordersChildChromosome DeletionDevelopmental DisabilitiesGenetic Association StudiesHumansMale9q21.13 microdeletion syndromeabnormal eye physiologyabsence seizurearray-CGHbrain MRI anomaliesdysmorphic featuresgenotype–phenotype comparisonintellectual disabilityPCSK5PRUNE2RORBsevere myopiaTRPM6

Identifiers

PMID37239476
PMCPMC10218196
OpenAlexW4377290628

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.