Evidence map›Paper›PMID 29034068›Full record

ArticleMolecular autism2017

Clinical phenotype of ASD-associated

Rachel K Earl, Tychele N Turner, Heather C Mefford, Caitlin M Hudac, Jennifer Gerdts, Evan E Eichler, Raphael A Bernier

Abstract read
In one paragraph

Article in Molecular autism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.

0numbers the graph read from it
0cells of the map it votes in
49citing 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

49 citing papers in PubMed.

  1. Article
  2. Epigenetic treatment of synaptic and behavioral deficits in Dyrk1a-mutant mice.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026
    Article
  3. Review
  4. TALE and Hox Transcription Factors Control Adult Behaviors in Zebrafish.bioRxiv : the preprint server for biology · 2026
    Article
  5. Article
  6. Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants.Autism research : official journal of the International Society for Autism Research · 2025
    Article
  7. Motor phenotypes associated with genetic neurodevelopmental disorders.Annals of clinical and translational neurology · 2024
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Skeletal health inFrontiers in neuroscience · 2024
    Review
  15. Article
  16. Article
  17. Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.Autism research : official journal of the International Society for Autism Research · 2023
    Article
  18. Article
  19. Review
  20. 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

7 authors.

Rachel K EarlDepartment of Psychiatry and Behavioral Sciences, University of Washington, CHDD Box 357920, Seattle, WA 98195 USA.
Tychele N TurnerDepartment of Genome Sciences, University of Washington, Seattle, WA USA.
Heather C MeffordSchool of Medicine, University of Washington, Seattle, WA USA.
Caitlin M HudacDepartment of Psychiatry and Behavioral Sciences, University of Washington, CHDD Box 357920, Seattle, WA 98195 USA.
Jennifer GerdtsDepartment of Psychiatry and Behavioral Sciences, University of Washington, CHDD Box 357920, Seattle, WA 98195 USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington, Seattle, WA USA.
Raphael A BernierDepartment of Psychiatry and Behavioral Sciences, University of Washington, CHDD Box 357920, Seattle, WA 98195 USA.

Funding

Mechanisms of Brain Dysmorphology in MN1 C-Terminal Truncation Syndrome, a Novel Intellectual Developmental Disability Disorder P50HD103524 · NICHD · UNIVERSITY OF WASHINGTON · PI DANIEL DOHERTY · 2020 to 2026
$9.9M
Sporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2M
Intellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 2014 to 2019
$7.9M
Phenotypic Characterization of Gene Disrupting Mutations in ASDR01MH100047 · NIMH · UNIVERSITY OF WASHINGTON · PI BERNIER, RAPHAEL A · 2014 to 2018
$2.1M
Howard Hughes Medical InstituteNICHD NIH HHS P50 HD103524NICHD NIH HHS U54 HD083091NIMH NIH HHS R01 MH100047NIMH NIH HHS R01 MH101221
6 · The paper itself

Abstract

background

methodsPhenotypic information from previously published

results

conclusionsResults confirm a core clinical phenotype for

Indexed as

AdolescentAutism Spectrum DisorderChildChild, PreschoolDNA-Binding ProteinsDNA Copy Number VariationsDyrk KinasesFemaleHaploinsufficiencyHumansIntellectual DisabilityLanguage Development DisordersMalePhenotypePolymorphism, Single NucleotideProtein Serine-Threonine KinasesCHD8 protein, humanDNA-Binding ProteinsDyrk KinasesProtein Serine-Threonine KinasesProtein-Tyrosine KinasesTranscription FactorsAutismClinical phenotypeDisruptive mutationDYRK1AGenetically defined subtypeGenetic syndrome

Identifiers

PMID29034068
PMCPMC5629761

What OpenQuestion holds

Textmetadata
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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.