Evidence map›Paper›PMID 36980951›Full record

ArticleGenes2023

Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants.

Jente Verbesselt, Cynthia B Solot, Ellen Van Den Heuvel, T Blaine Crowley, Victoria Giunta, Jeroen Breckpot, Donna M McDonald-McGinn, Inge Zink, Ann Swillen

Open access · goldFull text read
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 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
2.2field-weighted citation impact, top 13% 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

7 citing papers in PubMed, 14 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus.Autism research : official journal of the International Society for Autism Research · 2023
    Article
  7. 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

9 authors at 2 institutions in 3 countries.

Jente VerbesseltDepartment of Human Genetics, Catholic University Leuven, 3000 Leuven, Belgium.ORCID 0000-0002-3024-8520
Cynthia B SolotCenter for Childhood Communication, 22q and You Center, Cleft Lip and Palate Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-3259-9575
Ellen Van Den HeuvelCentre for Developmental Disorders, University Hospital Brussels, 1090 Jette, Belgium.ORCID 0009-0004-6956-0409
T Blaine CrowleyChildren's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-3272-5458
Victoria GiuntaChildren's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Jeroen BreckpotDepartment of Human Genetics, Catholic University Leuven, 3000 Leuven, Belgium.ORCID 0000-0002-0734-5154
Donna M McDonald-McGinnChildren's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-4077-250X
Inge ZinkResearch Group Experimental Oto-Rhino-Laryngology (ExpORL), Department of Neurosciences, Catholic University Leuven, 3000 Leuven, Belgium.ORCID 0000-0001-7954-1720
Ann SwillenDepartment of Human Genetics, Catholic University Leuven, 3000 Leuven, Belgium.ORCID 0000-0003-4258-4537
Children's Hospital of Philadelphia · USKU Leuven · BE

Funding

2/9: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders.U01MH119737 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI MCDONALD-MCGINN, DONNA MARIE · 2019 to 2023
$2.4M
Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disordersU01MH119759 · NIMH · KATHOLIEKE UNIVERSITEIT LEUVEN · PI SWILLEN, ANN · 2019 to 2023
$513k
NIMH NIH HHS 1U01MH119759-01NIMH NIH HHS U01 MH119737NIMH NIH HHS U01MH119737NIMH NIH HHS U01 MH119759
6 · The paper itself

Abstract

Although it is known that copy number variants (CNVs) on chromosome 22, such as 22q11.2 deletion (22q11.2DS) and 22q11.2 duplication (22q11.2Dup) syndromes, are associated with higher risk for neurodevelopmental issues, few studies have examined the language skills across 22q11.2Dup nor compared them with the 22q11.2DS. The current study aims to characterize language abilities in school-aged children with 22q11.2Dup (

Indexed as

Abnormalities, MultipleDiGeorge SyndromeChildChromosome DuplicationChromosomes, Human, Pair 22DNA Copy Number VariationsHumansLanguage22q11.2 deletion syndrome22q11.2 duplicationcommunicationcopy number variantslanguage

Identifiers

PMID36980951
PMCPMC10048271
OpenAlexW4323668885

What OpenQuestion holds

Textfull text, public
LicenceCC BY
measurements read48
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.