Evidence map›Paper›PMID 30059871›Full record

ReviewCurrent opinion in psychology2019

The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress.

Anne B Arnett, Sandy Trinh, Raphael A Bernier

Abstract readReview
In one paragraph

Review in Current opinion in psychology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing 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

23 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. RhoG-Binding Domain of Elmo1 Ameliorates Excessive Process Elongation Induced by Autism Spectrum Disorder-Associated Sema5A.Pathophysiology : the official journal of the International Society for Pathophysiology · 2023
    Article
  9. Sexual Dimorphism in Telomere Length in Childhood Autism.Journal of autism and developmental disorders · 2023
    Article
  10. Article
  11. Review
  12. Review
  13. Article
  14. Social Deficits and Cerebellar Degeneration in Purkinje CellFrontiers in molecular neuroscience · 2022
    Article
  15. Review
  16. Article
  17. Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2020
    Article
  18. Review
  19. Review
  20. Co-occurring medical conditions among individuals with ASD-associated disruptive mutations.Children's health care : journal of the Association for the Care of Children's Health · 2020
    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

3 authors.

Anne B ArnettUniversity of Washington, Department of Psychiatry & Behavioral Sciences, Center on Human Development and Disability, Box 357920, Seattle, WA 98195, USA.
Sandy TrinhUniversity of Washington, Department of Psychiatry & Behavioral Sciences, Center on Human Development and Disability, Box 357920, Seattle, WA 98195, USA.
Raphael A BernierUniversity of Washington, Department of Psychiatry & Behavioral Sciences, Center on Human Development and Disability, Box 357920, Seattle, WA 98195, USA. Electronic address: Rab2@uw.edu.

Funding

Phenotypic Characterization of Gene Disrupting Mutations in ASDR01MH100047 · NIMH · UNIVERSITY OF WASHINGTON · PI BERNIER, RAPHAEL A · 2014 to 2018
$2.1M
Neurophysiologically Defined Subtypes of ADHDK99MH116064 · NIMH · UNIVERSITY OF WASHINGTON · PI ARNETT, ANNE BERNARD · 2018 to 2019
$255k
NIMH NIH HHS K99 MH116064NIMH NIH HHS R01 MH100047
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a behaviorally heterogeneous disorder with a strong genetic component, as evidenced by decades of twin and family studies. In recent years, enhanced methods of genomic sequencing have revealed that structural variation and mutations to both coding and non-coding regions of single, candidate genes may account for more than 30% of ASD cases. The current review highlights a genotype-first approach that builds upon these molecular findings to parse the heterogeneity of ASD. Advantages of this approach include strong potential for precision medicine diagnosis and treatment, as well as opportunity to advance basic science research on neurodevelopmental disorders. Psychosocial benefits of identifying genetic subtypes of ASD have already been realized through social networking, comprehensive clinical phenotyping, and increased awareness among providers of rare genetic mutations.

Indexed as

Genome-Wide Association StudyGenotypeAutism Spectrum DisorderHumansPhenotypePrecision Medicine

Identifiers

PMID30059871
PMCPMC7849459

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.