Evidence map›Paper›PMID 36118902›Full record

ArticleFrontiers in genetics2022

An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.

Jieyi Chen, Ping Zhang, Meifang Peng, Bo Liu, Xiao Wang, Siyuan Du, Yao Lu, Xiongzheng Mu, Yulan Lu, Sijia Wang and 1 more

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

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 28% 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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
  3. Shifting the Focus ofMolecular syndromology · 2023
    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

11 authors at 5 institutions in 1 country.

Jieyi ChenDepartment of Plastic Surgery, Huashan Hospital, Fudan University, Shanghai, China.
Ping ZhangCenter for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
Meifang PengThe Core Laboratory in Medical Center of Clinical Research, Department of Molecular Diagnostics & Endocrinology, Shanghai Ninth People's Hospital, State Key Laboratory of Medical Genomics, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Bo LiuCenter for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
Xiao WangCenter for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
Siyuan DuCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Yao LuSchool of Basic Medical Sciences, Fudan University, Shanghai, China.
Xiongzheng MuDepartment of Plastic Surgery, Huashan Hospital, Fudan University, Shanghai, China.
Yulan LuCenter for Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, China.
Sijia WangCAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Yingzhi WuDepartment of Plastic Surgery, Huashan Hospital, Fudan University, Shanghai, China.
Shanghai Medical College of Fudan University · CNChildren's Hospital of Fudan University · CNFudan University · CNShanghai Institute of Nutrition and Health · CNShanghai Jiao Tong University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Craniosynostosis (CRS) is a disease with prematurely fused cranial sutures. In the last decade, the whole-exome sequencing (WES) was widely used in Caucasian populations. The WES largely contributed in genetic diagnosis and exploration on new genetic mechanisms of CRS. In this study, we enrolled 264 CRS patients in China. After a 17-gene-panel sequencing designed in the previous study, 139 patients were identified with pathogenic/likely pathogenic (P/LP) variants according to the ACMG guideline as positive genetic diagnosis. WES was then performed on 102 patients with negative genetic diagnosis by panel. Ten P/LP variants were additionally identified in ten patients, increasing the genetic diagnostic yield by 3.8% (10/264). The novel variants in

Indexed as

candidate variantscost estimationcraniosynostosisgenetic diagnosisresearch pipelinewhole-exome sequencing

Identifiers

PMID36118902
PMCPMC9481236
OpenAlexW4294191265

What OpenQuestion holds

Textmetadata
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.