Evidence map›Paper›PMID 40376972›Full record

ArticleMolecular medicine reports2025

Novel compound heterozygous mutation in

Xiao Liu, Jing-Lin Zhou, Cheng-Ying Yang, Hai-Yan Zhou, Wen-Bin He, Jing Yang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular medicine reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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 synthesis or guideline pooled it.

  1. Pooled it
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.

Xiao LiuDepartment of Maternity, The First Hospital of Changsha, Changsha, Hunan 410005, P.R. China.
Jing-Lin ZhouDepartment of Genetics, Hunan Guangxiu Hospital Affiliated with Hunan Normal University, Hunan Normal University Health Science Centre, Changsha, Hunan 410017, P.R. China.
Cheng-Ying YangDepartment of Maternity, The First Hospital of Changsha, Changsha, Hunan 410005, P.R. China.
Hai-Yan ZhouDepartment of Maternity, The First Hospital of Changsha, Changsha, Hunan 410005, P.R. China.
Wen-Bin HeDepartment of Genetics, Hunan Guangxiu Hospital Affiliated with Hunan Normal University, Hunan Normal University Health Science Centre, Changsha, Hunan 410017, P.R. China.
Jing YangDepartment of Maternity, The First Hospital of Changsha, Changsha, Hunan 410005, P.R. China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital heart disease (CHD) is the most common birth defect, affecting 2‑8% of newborns, with a marked impact on neonatal health. In the present study, the parents of a fetus diagnosed with CHD were recruited to investigate the genetic causes of this condition. Whole exome sequencing was conducted on tissue obtained from the fetus. A compound heterozygous mutation in the dynein axonemal heavy chain 9 (

Indexed as

Axonemal DyneinsHeart Defects, CongenitalHeterozygoteMutationExome SequencingHumansPedigreeAxonemal Dyneinsciliary movementcompound heterozygous mutationcongenital heart diseaseDNAH9nodal cilia

Identifiers

PMID40376972
PMCPMC12105450

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.