Evidence map›Paper›PMID 40406060›Full record

ArticleFrontiers in genetics2025

Identification of candidate genes harboring pathogenic variants in congenital heart disease and laterality defects in Chinese population.

Jinxin Wang, Weicheng Chen, Xianghui Huang, Han Gao, Zhiyu Feng, Chaozhong Tan, Quannan Zhuang, Yuan Gao, Shaojie Min, Yuquan Lu and 5 more

Abstract read
In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
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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

15 authors.

Jinxin Wang *Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Weicheng Chen *Pediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Xianghui HuangPediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Han GaoPediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Zhiyu FengPediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Chaozhong TanPediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Quannan ZhuangPediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Yuan GaoPediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Shaojie MinPediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Yuquan LuPediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Feizhen WuPediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Maoxiang QianPediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Weili YanPediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Wei ShengPediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.
Guoying HuangPediatric Heart Center, Children's Hospital of Fudan University, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Congenital heart disease (CHD) is often accompanied by laterality defects (LD), giving rise to a severe and intricate form of congenital anomaly. The aim of this study was to explore the genetic etiology of CHD/LD in the Chinese population. Methods: We recruited 52 Chinese CHD family trios between January 2008 and August 2019, each comprising a CHD/LD proband and their healthy parents. Whole exome sequencing (WES) was carried out on peripheral blood samples from these trios. Candidate genes harboring pathogenic variants were determined through quality control of WES results and a screening approach based on variant rarity, deleteriousness, inheritance patterns, and gene function. Results: A total of two candidate genes and 46 CHD-related genes harboring LOF (loss-of-function) variants were identified. These included one Conclusion: This research identified two novel candidate genes (

Indexed as

candidate genesChinese populationscongenital heart diseaselaterality defectspathogenic variants

Identifiers

PMID40406060
PMCPMC12095028

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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.