Evidence map›Paper›PMID 37278883›Full record

ReviewMolecular neurobiology2023

A Review on the Role of Genetic Mutations in the Autism Spectrum Disorder.

Soudeh Ghafouri-Fard, Ashkan Pourtavakoli, Bashdar Mahmud Hussen, Mohammad Taheri, Seyed Abdulmajid Ayatollahi

Abstract readReview
PubMed Publisher
In one paragraph

Review in Molecular neurobiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
3.9field-weighted citation impact, top 6% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.

  1. Pooled it
  2. Circadian rhythm lncRNABiochemistry and biophysics reports · 2026
    Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Autism-RelatedBiomolecules · 2024
    Article
  9. Assessment of Expression of lncRNAs in Autistic Patients.Journal of molecular neuroscience : MN · 2024
    Article
  10. Review
  11. Review
  12. Article
  13. Article
  14. Review
  15. 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

5 authors at 3 institutions in 3 countries.

Soudeh Ghafouri-FardDepartment of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Ashkan PourtavakoliPhytochemistry Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Bashdar Mahmud HussenDepartment of Clinical Analysis, College of Pharmacy, Hawler Medical University, Erbil, Kurdistan Region, Iraq.
Mohammad TaheriInstitute of Human Genetics, Jena University Hospital, Jena, Germany. mohammad.taheri@uni-jena.de.ORCID http://orcid.org/0000-0001-8381-0591
Seyed Abdulmajid AyatollahiPhytochemistry Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. majid_ayatollahi@yahoo.com.
Shahid Beheshti University of Medical Sciences · IRHawler Medical University · IQJena University Hospital · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is among the most widespread neurodevelopmental diseases, with an approximate prevalence rate of 1 in 59. From a genetic point of view, this disorder is highly heterogeneous. This disorder is associated with both inheritable and de novo mutations in several genes. In addition to genetic loci that are identified through early karyotype analyses, recent advent of high throughput sequencing methods has facilitated identification of several genetic loci that confer risk of ASD. The current review provides an overview of different types of identified mutations including missense and nonsense mutations and copy number variations in various genes in individuals affected with ASD.

Indexed as

Autism Spectrum DisorderDNA Copy Number VariationsGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMutationAutism spectrum disorderDiagnosticMissenseMutationPathogenesis

Identifiers

PMID37278883
OpenAlexW4379509302

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.