Evidence map›Paper›PMID 36033615›Full record

ArticleFrontiers in neuroscience2022

Novel compound heterozygous mutation in

Meixin Hu, Huiping Li, Zhuxi Huang, Dongyun Li, Ying Xu, Qiong Xu, Bo Chen, Yi Wang, Jingxin Deng, Ming Zhu and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neuroscience, 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
–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

7 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. NovelHeliyon · 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

12 authors.

Meixin HuDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Huiping LiDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Zhuxi HuangInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Dongyun LiDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Ying XuInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Qiong XuDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Bo ChenInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Yi WangDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Jingxin DengDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Ming ZhuInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Weijun FengInstitute of Pediatrics, Children's Hospital of Fudan University, Shanghai, China.
Xiu XuDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Mutations in the Materials and methods: Whole exome sequencing was performed on a patient presenting with a neurodevelopmental disorder. Novel compound heterozygous mutations in Results: The patient was presented with global developmental delay, autism spectrum disorder, microcephaly, epilepsy, and dysmorphic facial features but without apparent capillary malformation on the skin and organs. Cortical organoids with Conclusion: Our findings demonstrate that the clinical phenotype of

Indexed as

cortical organoidsmicrocephalyneurodevelopmental disordernovel mutationSTAMBP

Identifiers

PMID36033615
PMCPMC9399766

What OpenQuestion holds

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Registered trials

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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.