Evidence map›Paper›PMID 31135459›Full record

ReviewCurrent opinion in neurology2019

Recent genetic and functional insights in autism spectrum disorder.

Moe Nakanishi, Matthew P Anderson, Toru Takumi

Abstract readReview
In one paragraph

Review in Current opinion in neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Review
  5. Article
  6. Science advances · 2025
    Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Review
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

3 authors.

Moe NakanishiRIKEN Brain Science Institute, Wako, Saitama, Japan.
Matthew P AndersonDepartments of Neurology and Pathology, Beth Israel Deaconess Medical Center.
Toru TakumiRIKEN Brain Science Institute, Wako, Saitama, Japan.

Funding

Mouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI POMEROY, SCOTT LOREN · 2016 to 2020
$5.2M
VTA VGluT2 Sociability Circuit in Genetic AutismR01MH112714 · NIMH · BETH ISRAEL DEACONESS MEDICAL CENTER · PI SAPER, CLIFFORD B · 2018 to 2022
$2.2M
Neurobiology of Aggression Comorbidity in AutismR01MH114858 · NIMH · BETH ISRAEL DEACONESS MEDICAL CENTER · PI SAPER, CLIFFORD B · 2017 to 2021
$2.2M
Neurobiology of Aggression Co-morbidity in Mouse Model of Idic15 AutismR21MH100868 · NIMH · BETH ISRAEL DEACONESS MEDICAL CENTER · PI ANDERSON, MATTHEW P · 2013 to 2014
$479k
Conditional Genetics Rescue of Angelman SyndromeR21HD079249 · NICHD · BETH ISRAEL DEACONESS MEDICAL CENTER · PI ANDERSON, MATTHEW P · 2014 to 2015
$456k
NICHD NIH HHS R21 HD079249NICHD NIH HHS U54 HD090255NIMH NIH HHS R01 MH112714NIMH NIH HHS R01 MH114858NIMH NIH HHS R21 MH100868
6 · The paper itself

Abstract

purpose of reviewRecent advances in genetic technologies allowed researchers to identify large numbers of candidate risk genes associated with autism spectrum disorder (ASD). Both strongly penetrant rare variants and the accumulation of common variants with much weaker penetrance contribute to the cause of ASD. To identify the highly confident candidate genes, software and resources have been applied, and functional evaluation of the variants has provided further insights for ASD pathophysiology. These studies ultimately identify the molecular and circuit alteration underlying the behavioral abnormalities in ASD. In this review, we introduce the recent genetic and genomic findings and functional approaches for ASD variants providing a deeper understanding of the etiology of ASD. RECENT

findingsIntegrated meta-analysis that recruited a larger number of ASD cases has helped to prioritize ASD candidate genes or genetic loci into highly confidence candidate genes for further investigation. Not only coding but also noncoding variants have been recently implicated to confer the risk of ASD. Functional approaches of genes or variants revealed the disruption of specific molecular pathways. Further studies combining ASD genetics and genomics with recent techniques in engineered mouse models show molecular and circuit mechanisms underlying the behavioral deficits in ASD. SUMMARY: Advances in ASD genetics and the following functional studies provide significant insights into ASD pathophysiology at molecular and circuit levels.

Indexed as

Genetic Predisposition to DiseaseAnimalsAutism Spectrum DisorderDisease Models, AnimalDNA Copy Number VariationsHumansMice

Identifiers

PMID31135459
PMCPMC6959126

What OpenQuestion holds

Textmetadata
LicenceTDM
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.