Evidence map›Paper›PMID 39780902›Full record

ArticleClinical case reports2025

Novel Copy Number Deletion Involving

Jing Y Hsu, Daniah H Ibrahim, Riza Ali, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J Lyon

Abstract read
In one paragraph

Article in Clinical case reports, 2025. 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

7 authors.

Jing Y HsuRosalind Franklin University of Medicine and Science Chicago Illinois USA.
Daniah H IbrahimRosalind Franklin University of Medicine and Science Chicago Illinois USA.
Riza AliRosalind Franklin University of Medicine and Science Chicago Illinois USA.
Elaine MarchiDepartment of Human Genetics New York State Institute for Basic Research in Developmental Disabilities Staten Island New York USA.
Maureen GavinGeorge A. Jervis Clinic New York State Institute for Basic Research in Developmental Disabilities Staten Island New York USA.
Karen AmbleGeorge A. Jervis Clinic New York State Institute for Basic Research in Developmental Disabilities Staten Island New York USA.
Gholson J LyonDepartment of Human Genetics New York State Institute for Basic Research in Developmental Disabilities Staten Island New York USA.ORCID https://orcid.org/0000-0002-5869-0716

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Copy number variations (CNVs) contribute to various disorders including intellectual disability, developmental disorders, and cancer. This study identifies a de novo 2.62 Mb deletion at 6q22.1_q22.31, implicating the

Indexed as

DNA copy number variationsepilepsyintellectual disabilityNUS1 proteinprotein glycosylation

Identifiers

PMID39780902
PMCPMC11710847

What OpenQuestion holds

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Registered trials

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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.