Evidence map›Paper›PMID 28690861›Full record

ArticleHuman genome variation2017

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Dezhong Chen, Na Zhao, Jing Wang, Zhuoyu Li, Changxin Wu, Jie Fu, Han Xiao

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

Article in Human genome variation, 2017. 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
0.6field-weighted citation impact, top 36% 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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. A novel frameshift variant ofFrontiers in genetics · 2025
    Article
  2. Article
  3. A novelHuman genome variation · 2018
    Article
  4. A novel INDEL mutation in theInternational journal of clinical and experimental pathology · 2018
    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

7 authors at 2 institutions in 1 country.

Dezhong ChenInner Mongolia Molidawa Dawoerzu Zizhiqi People's Hospital, Hulunbuir, China.
Na ZhaoInstitute of Biomedical Sciences, Shanxi University, Taiyuan, China.
Jing WangInstitute of Biomedical Sciences, Shanxi University, Taiyuan, China.
Zhuoyu LiInstitute of Biomedical Sciences, Shanxi University, Taiyuan, China.
Changxin WuInstitute of Biomedical Sciences, Shanxi University, Taiyuan, China.
Jie FuInner Mongolia Molidawa Dawoerzu Zizhiqi People's Hospital, Hulunbuir, China.
Han XiaoInstitute of Biomedical Sciences, Shanxi University, Taiyuan, China.
Shanxi University · CNHulunbuir University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in

Identifiers

PMID28690861
PMCPMC5489998
OpenAlexW2730858103

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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.