Evidence map›Paper›PMID 38586596›Full record

ArticleGenetics research2024

Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.

Natalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, Diogo Cordeiro de Queiroz Soares, Leonardo Caires Dos Santos, Anelisa Gollo Dantas, Vera Ayres Meloni, Sintia Iole Belangero, Vera Lúcia Gil-Da-Silva-Lopes, Chong Ae Kim and 1 more

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Article in Genetics research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Natalia NunesGenetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.ORCID 0000-0002-7247-4745
Beatriz Carvalho NunesGenetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.ORCID 0000-0002-1230-1113
Malú ZamariolliGenetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.ORCID 0000-0003-3125-1948
Diogo Cordeiro de Queiroz SoaresGenetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil.ORCID 0000-0002-6589-2367
Leonardo Caires Dos SantosGenetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.ORCID 0000-0002-8181-3884
Anelisa Gollo DantasGenetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.ORCID 0000-0003-0594-6762
Vera Ayres MeloniGenetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.ORCID 0000-0003-4954-8766
Sintia Iole BelangeroGenetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.ORCID 0000-0002-2419-4351
Vera Lúcia Gil-Da-Silva-LopesDepartment of Translational Medicine, School of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil.ORCID 0000-0003-1288-0554
Chong Ae KimGenetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil.ORCID 0000-0002-1754-1300
Maria Isabel MelaragnoGenetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.ORCID 0000-0002-4344-9698

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with a broad and heterogeneous phenotype, even though most of the deletions present similar sizes, involving ∼3 Mb of DNA. In a relatively large population of a Brazilian 22q11.2DS cohort (60 patients), we investigated genetic variants that could act as genetic modifiers and contribute to the phenotypic heterogeneity, using a targeted NGS (Next Generation Sequencing) with a specific Ion AmpliSeq panel to sequence nine candidate genes (

Indexed as

DiGeorge SyndromeBrazilChromosome DeletionHumansPhenotype

Identifiers

PMID38586596
PMCPMC10998724

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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.