Evidence map›Paper›PMID 40004465›Full record

ArticleGenes2025

16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of

Aiko Iwata-Otsubo, Alyssa L Rippert, Jorune Balciuniene, Sarah K Fiordaliso, Robert Chen, Preetha Markose, Cara M Skraban, Christopher Gray, Elaine H Zackai, Holly A Dubbs and 3 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. 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
–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

1 citing paper in PubMed.

  1. A novel heterozygous mutation ofFrontiers in pediatrics · 2025
    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

13 authors.

Aiko Iwata-OtsuboDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0001-9378-3961
Alyssa L RippertDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-4735-5223
Jorune BalciunieneDivision of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Sarah K FiordalisoDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-0308-2040
Robert ChenDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0001-7472-8342
Preetha MarkoseDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Cara M SkrabanDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Christopher GrayDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Elaine H ZackaiDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-8002-893X
Holly A DubbsDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Matthew A DeardorffDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Laura K ConlinDivision of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Kosuke IzumiDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Funding

MEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7M
Children's Hospital of Philadelphia Foerderer awardNIGMS NIH HHS T32 GM008638NIGMS NIH HHS T32GM008638
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Abnormalities, MultipleBone Diseases, DevelopmentalChromosomes, Human, Pair 16Intellectual DisabilityRepressor ProteinsTooth AbnormalitiesAdolescentChildChild, PreschoolChromosome DeletionFaciesFemaleHumansMaleANKRD11 protein, humanRepressor ProteinsANKRD11developmental delaygene expressionKBG syndromemolecular diagnosistranscriptome

Identifiers

PMID40004465
PMCPMC11855469

What OpenQuestion holds

Textmetadata
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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.