Evidence map›Paper›PMID 30390048›Full record

ReviewNature reviews. Genetics2019

Autism spectrum disorder: insights into convergent mechanisms from transcriptomics.

Mathieu Quesnel-Vallières, Robert J Weatheritt, Sabine P Cordes, Benjamin J Blencowe

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 101 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
101citing papers in PubMed, 4 pooled it
7.0field-weighted citation impact, top 2% 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

101 citing papers in PubMed, 4 syntheses or guidelines pooled it, 172 citations in OpenAlex.

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  19. Autism risk genes converge onbioRxiv : the preprint server for biology · 2025
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41 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

4 authors at 2 institutions in 3 countries.

Mathieu Quesnel-VallièresDepartment of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. mathieu.quesnel-vallieres@pennmedicine.upenn.edu.ORCID http://orcid.org/0000-0001-9945-8123
Robert J WeatherittDonnelly Centre, University of Toronto, Toronto, Ontario, Canada.
Sabine P CordesDepartment of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. cordes@lunenfeld.ca.
Benjamin J BlencoweDepartment of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. b.blencowe@utoronto.ca.
University of Toronto · CAGarvan Institute of Medical Research · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Heredity has a major role in autism spectrum disorder (ASD), yet underlying causal genetic variants have been defined only in a fairly small subset of cases. The enormous genetic heterogeneity associated with ASD emphasizes the importance of identifying convergent pathways and molecular mechanisms that are responsible for this disorder. We review how recent transcriptomic analyses have transformed our understanding of pathway convergence in ASD. In particular, deep RNA sequencing coupled with downstream investigations has revealed that a substantial fraction of autistic brains possess distinct transcriptomic signatures. These signatures are in part a consequence of altered neuronal activity and have a particular impact on pre-mRNA alternative splicing patterns.

Indexed as

Autism Spectrum DisorderGene Expression ProfilingHigh-Throughput Nucleotide SequencingRNA SplicingTranscriptomeHumansRNA, MessengerSequence Analysis, RNARNA, Messenger

Identifiers

PMID30390048
OpenAlexW2898876238

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.