Evidence map›Paper›PMID 40980137›Full record

ArticleFrontiers in pediatrics2025

Paternal mosaicism in

Bowen Zhao, Fengjuan Ding, Fei Hou, Hua Jin

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 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. 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

4 authors.

Bowen Zhao *Department of Prenatal Diagnosis, Jinan Maternity and Child Care Hospital Affiliated Shandong First Medical University (Jinan Maternity and Child Care Hospital), Jinan, Shandong, China.
Fengjuan Ding *Department of Prenatal Diagnosis, Jinan Maternity and Child Care Hospital Affiliated Shandong First Medical University (Jinan Maternity and Child Care Hospital), Jinan, Shandong, China.
Fei HouDepartment of Prenatal Diagnosis, Jinan Maternity and Child Care Hospital Affiliated Shandong First Medical University (Jinan Maternity and Child Care Hospital), Jinan, Shandong, China.
Hua JinDepartment of Prenatal Diagnosis, Jinan Maternity and Child Care Hospital Affiliated Shandong First Medical University (Jinan Maternity and Child Care Hospital), Jinan, Shandong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Bainbridge-Ropers syndrome (BRS) is a neurodevelopmental disorder predominantly caused by pathogenic variants in the Methods: Trio-based whole-exome sequencing (WES) was performed on the proband and both parents to identify candidate variants, which were subsequently validated by Sanger sequencing. Results: We definitively diagnosed this family by WES and found the lowest level of paternal mosaicism reported to date, with a peripheral blood variant allele frequency (VAF) of 8.17% and a semen VAF of 15.03%. Prenatal diagnosis at 18 weeks of gestation confirmed that the variant was not detected in this pregnancy. Conclusion: This study establishes parental chimerism as an important genetic mechanism for

Indexed as

ASXL3 genebainbridge-ropers syndrome1paternal mosaicismprenatal diagnosiswhole-exome sequencing

Identifiers

PMID40980137
PMCPMC12443740

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.