Evidence map›Paper›PMID 30627967›Full record

ReviewJournal of applied genetics2019

Genetics and epigenetics of autism spectrum disorder-current evidence in the field.

Barbara Wiśniowiecka-Kowalnik, Beata Anna Nowakowska

Open access · hybridAbstract readReview
In one paragraph

Review in Journal of applied genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
108citing papers in PubMed, 3 pooled it
15.5field-weighted citation impact, top 1% 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

108 citing papers in PubMed, 3 syntheses or guidelines pooled it, 248 citations in OpenAlex.

  1. Pooled it
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  4. Autologous cord bloodWorld journal of clinical pediatrics · 2025
    Trial
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  20. DecodingJournal of clinical medicine · 2025
    Review

48 more citing papers are in PubMed but not listed here.

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

2 authors at 1 institution in 1 country.

Barbara Wiśniowiecka-KowalnikInstitute of Mother and Child, Warsaw, Poland.
Beata Anna NowakowskaInstitute of Mother and Child, Warsaw, Poland. beata.nowakowska@imid.med.pl.
Polish Mother’s Memorial Hospital Research Institute · PL

Funding

Ministry of National Education, Poland 510-18-09Ministry of National Education, Poland 510-18-54
6 · The paper itself

Abstract

Autism spectrum disorders (ASD) is a heterogenous group of neurodevelopmental disorders characterized by problems in social interaction and communication as well as the presence of repetitive and stereotyped behavior. It is estimated that the prevalence of ASD is 1-2% in the general population with the average male to female ratio 4-5:1. Although the causes of ASD remain largely unknown, the studies have shown that both genetic and environmental factors play an important role in the etiology of these disorders. Array comparative genomic hybridization and whole exome/genome sequencing studies identified common and rare copy number or single nucleotide variants in genes encoding proteins involved in brain development, which play an important role in neuron and synapse formation and function. The genetic etiology is recognized in ~ 25-35% of patients with ASD. In this article, we review the current state of knowledge about the genetic etiology of ASD and also propose a diagnostic algorithm for patients.

Indexed as

Epigenesis, GeneticAlgorithmsAutism Spectrum DisorderComparative Genomic HybridizationDNA Copy Number VariationsExomeHumansModels, GeneticAutism spectrum disordersCopy number variantsHeritabilitySingle nucleotide variantsSynapse

Identifiers

PMID30627967
PMCPMC6373410
OpenAlexW2909735684

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.