Evidence map›Paper›PMID 36011358›Full record

ArticleGenes2022

An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.

Xiaonan Du, Ji Wang, Shuang Li, Yu Ma, Tianqi Wang, Bingbing Wu, Yuanfeng Zhou, Lifei Yu, Yi Wang

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

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.5field-weighted citation impact, top 16% 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

7 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Sleep disturbance in Angelman syndrome patients.Orphanet journal of rare diseases · 2024
    Review
  6. Article
  7. 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

9 authors at 2 institutions in 1 country.

Xiaonan DuDivision of Neurology, National Children's Medical Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China.ORCID 0000-0003-0821-433X
Ji WangDivision of Neurology, National Children's Medical Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China.
Shuang LiDivision of Neurology, National Children's Medical Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China.
Yu MaDivision of Neurology, National Children's Medical Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China.
Tianqi WangDivision of Neurology, National Children's Medical Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China.
Bingbing WuCenter for Molecular Medicine, National Children's Medical Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China.
Yuanfeng ZhouDivision of Neurology, National Children's Medical Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China.
Lifei YuDivision of Neurology, National Children's Medical Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China.
Yi WangDivision of Neurology, National Children's Medical Center, Children's Hospital of Fudan University, No. 399 Wanyuan Road, Shanghai 201102, China.
Children's Hospital of Fudan University · CNShanghai Medical College of Fudan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Angelman syndrome (AS) is a neurodevelopmental genetic disorder, but there has been limited analysis of a large cohort of Chinese children with Angelman syndrome. This study aims to assess the phenotype and genotype of Chinese children with Angelman syndrome. We retrospectively analyzed data through a detailed online survey combined with an on-site study. Furthermore, phenotype analysis stratified by deletion and non-deletion groups was carried out. The responses of family members of 695 individuals with AS revealed that 577 patients (83.02%) had maternal deletions, 65 patients (9.35%) carried

Indexed as

Angelman SyndromeEpilepsyChinaGenotypeHumansPhenotypeRetrospective Studies15q deletionAngelman syndromeChinese childrenphenotype and genotypeUBE3A

Identifiers

PMID36011358
PMCPMC9408022
OpenAlexW4291464156

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.