Evidence map›Paper›PMID 40225158›Full record

ArticleHuman mutation2023

Balanced Translocation Disrupting

Yi-Qiong Zhang, Peng-Fei Gao, Jing-Min Yang, Jing Zhang, Yu-Lan Lu, Jian-She Wang

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

Article in Human mutation, 2023. 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. Detection of a complex chromosomal rearrangement in a novel mouse mutant by optical genome mapping.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    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

6 authors.

Yi-Qiong ZhangThe Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.ORCID 0000-0001-9201-5880
Peng-Fei GaoState Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.ORCID 0000-0001-6500-2005
Jing-Min YangState Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.ORCID 0000-0003-4749-6683
Jing ZhangThe Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.ORCID 0000-0002-7290-8304
Yu-Lan LuCenter for Molecular Medicine, Shanghai Key Lab of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.ORCID 0000-0003-4941-5736
Jian-She WangThe Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.ORCID 0000-0003-0823-586X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report the clinical and genetic features of a Han Chinese boy who presented with disease suspect for Alagille syndrome (ALGS). Multiple genetic analyses (panel sequencing, multiplex-ligation-dependent probe amplification, and whole genome sequencing) failed to uncover a causative variant. Optical genomic mapping detected a reciprocal translocation between chromosomes 4 and 20, interrupting

Indexed as

Alagille SyndromeChromosome MappingJagged-1 ProteinTranslocation, GeneticHumansMaleJAG1 protein, humanJagged-1 Protein

Identifiers

PMID40225158
PMCPMC11918711

What OpenQuestion holds

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LicenceCC BY
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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.