Evidence map›Paper›PMID 38434094›Full record

ArticleHeliyon2024

Clinical characteristics and identification of novel

Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Simei Wang, Man Xiao, Yongchen Yang, Hong Zhang, Shengnan Wu

Abstract read
In one paragraph

Article in Heliyon, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

10 authors.

Xiaojun TangMolecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Xiaoping LanMolecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Xiaozhen SongMolecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Wuhen XuMolecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yuanfeng ZhangDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Simei WangDepartment of Neurology, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Man XiaoMolecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yongchen YangMolecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Hong ZhangMolecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Shengnan WuMolecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Vissers-Bodmer Syndrome, an autosomal dominant disease, is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia and autistic features with a highly variable phenotype. It is caused by variants in the CCR4-NOT transcription complex, subunit 1 gene (

Indexed as

CNOT1FrameshiftMissense variantVissers-Bodmer syndromeWhole-exome sequencing

Identifiers

PMID38434094
PMCPMC10906421

What OpenQuestion 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 OpenQuestion graph.