Evidence map›Paper›PMID 32851336›Full record

ArticlePediatric investigation2020

Whole-exome sequencing reveals two

Qiqing Sun, Jun Guo, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Yuanying Chen, Weili Yang, Wei Li, Yingjun Feng

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

Article in Pediatric investigation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.6field-weighted citation impact, top 14% 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

9 citing papers in PubMed, 14 citations in OpenAlex.

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  8. Pediatric investigation · 2020
    Article
  9. Whole-exome sequencing reveals twoPediatric investigation · 2020
    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 4 institutions in 1 country.

Qiqing SunDepartment of Cardiology Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital Zhengzhou China.
Jun GuoBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.
Chanjuan HaoBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.
Ruolan GuoBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.
Xuyun HuBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.
Yuanying ChenBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.
Weili YangHenan Key Laboratory of Pediatric Inherited & Metabolic Diseases Henan Children's Hospital Zhengzhou Hospital of Beijing Children's Hospital Zhengzhou China.
Wei LiBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, Beijing Children's Hospital Capital Medical University, National Center for Children's Health Beijing China.
Yingjun FengDepartment of Cardiology Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital Zhengzhou China.
Beijing Children’s Hospital · CNZhengzhou Children's Hospital · CNCapital Medical University · CNZhengzhou University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

importancePathogenic variants in the

objectiveTo elucidate the causative

methodsTrio whole-exome sequencing (WES) was performed. Variants were filtered and classified in accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG).

resultsWe identified two distinct

interpretationWe found that two patients with LVNC had variants in

Indexed as

Dilated cardiomyopathyLeft ventricular non‐compaction cardiomyopathyRNA‐binding motif protein 20Trio whole‐exome sequencing

Identifiers

PMID32851336
PMCPMC7331393
OpenAlexW3011616535

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.