Evidence map›Paper›PMID 38892002›Full record

ReviewInternational journal of molecular sciences2024

The Importance of Large-Scale Genomic Studies to Unravel Genetic Risk Factors for Autism.

Isabella de Sousa Nóbrega, André Luíz Teles E Silva, Bruno Yukio Yokota-Moreno, Andréa Laurato Sertié

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2024. 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
–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

9 citing papers in PubMed.

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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

4 authors.

Isabella de Sousa NóbregaFaculdade Israelita de Ciências da Saúde Albert Einstein, Hospital Israelita Albert Einstein, Rua Comendador Elias Jafet, 755. Morumbi, São Paulo 05653-000, Brazil.
André Luíz Teles E SilvaFaculdade Israelita de Ciências da Saúde Albert Einstein, Hospital Israelita Albert Einstein, Rua Comendador Elias Jafet, 755. Morumbi, São Paulo 05653-000, Brazil.ORCID 0000-0003-4621-7742
Bruno Yukio Yokota-MorenoFaculdade Israelita de Ciências da Saúde Albert Einstein, Hospital Israelita Albert Einstein, Rua Comendador Elias Jafet, 755. Morumbi, São Paulo 05653-000, Brazil.ORCID 0000-0001-5741-9847
Andréa Laurato SertiéFaculdade Israelita de Ciências da Saúde Albert Einstein, Hospital Israelita Albert Einstein, Rua Comendador Elias Jafet, 755. Morumbi, São Paulo 05653-000, Brazil.

Funding

The São Paulo Research Foundation (FAPESP) 2021/14491-2
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder. During the last 15 years, advances in genomic technologies and the availability of increasingly large patient cohorts have greatly expanded our knowledge of the genetic architecture of ASD and its neurobiological mechanisms. Over two hundred risk regions and genes carrying rare de novo and transmitted high-impact variants have been identified. Additionally, common variants with small individual effect size are also important, and a number of loci are now being uncovered. At the same time, these new insights have highlighted ongoing challenges. In this perspective article, we summarize developments in ASD genetic research and address the enormous impact of large-scale genomic initiatives on ASD gene discovery.

Indexed as

Autism Spectrum DisorderGenetic Predisposition to DiseaseGenomicsAutistic DisorderGenome-Wide Association StudyHumansRisk Factorsautism spectrum disordergene discoverygenetic heterogeneitygenomic technologieslarge patient cohortslocus discovery

Identifiers

PMID38892002
PMCPMC11172008

What OpenQuestion holds

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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.