Evidence map›Paper›PMID 37427070›Full record

ArticleTranslational pediatrics2023

Analysis of the

Xianghui Huang, Han Gao, Weicheng Chen, Zhiyu Feng, Chaozhong Tan, Quannan Zhuang, Jinxin Wang, Yuan Gao, Shaojie Min, Qinyu Yao and 6 more

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Translational pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.3field-weighted citation impact, top 37% of its field
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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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

16 authors at 3 institutions in 1 country.

Xianghui Huang *Institute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Han Gao *Institute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Weicheng Chen *Institute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Zhiyu FengInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Chaozhong TanInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Quannan ZhuangInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Jinxin WangInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Yuan GaoInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Shaojie MinInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Qinyu YaoInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Jingwei SunBengbu First People's Hospital, Bengbu, China.
Weili YanInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Xiaojing MaInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Feizhen WuInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Wei ShengInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Guoying HuangInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Children's Hospital of Fudan University · CNChinese Academy of Medical Sciences & Peking Union Medical College · CNFirst Affiliated Hospital of Bengbu Medical College · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Congenital heart disease (CHD) is a common birth defect, and is frequently accompanied with extracardiac malformations (ECM). Uncovering the genetic etiology of CHD may have a meaningful impact on disease management. De novo variants have been proven to be associated with CHD. Methods: Whole exome sequencing was performed for 4 unrelated CHD families with extracardiac malformations, candidate genes were screened by using stringent bioinformatics analysis, and the obtained variants were confirmed by Sanger sequencing. RT-PCR and Sanger sequencing were used to investigate the influence of a splice variant on pre-mRNA splicing. Further targeted sequencing was conducted to investigate the association of Results: Four novel heterozygous loss-of-function Conclusions: The findings here confirm that de novo loss-of-function variants of the

Indexed as

CHARGE syndromeCHD7 gene variantCongenital heart disease (CHD)extracardiac malformation (ECM)

Identifiers

PMID37427070
PMCPMC10326764
OpenAlexW4382726035

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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 Socratic graph.