Evidence map›Paper›PMID 29416845›Full record

ArticleMolecular autism2018

Anneke de Boer, Karlijn Vermeulen, Jos I M Egger, Joost G E Janzing, Nicole de Leeuw, Hermine E Veenstra-Knol, Nicolette S den Hollander, Hans van Bokhoven, Wouter Staal, Tjitske Kleefstra

Open access · goldAbstract read
In one paragraph

Article in Molecular autism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 24% 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

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Chromatin modifiers in neurodevelopment.Frontiers in molecular neuroscience · 2025
    Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Review
  13. A Rare De NovoBiology · 2018
    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

10 authors at 6 institutions in 1 country.

Anneke de Boer *1Karakter Child and Adolescent Psychiatry University Centre, Nijmegen, the Netherlands.
Karlijn Vermeulen *1Karakter Child and Adolescent Psychiatry University Centre, Nijmegen, the Netherlands.
Jos I M Egger4Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands.
Joost G E Janzing3Department of Psychiatry, Radboud University Medical Center, Nijmegen, the Netherlands.
Nicole de Leeuw7Department of Human Genetics, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, the Netherlands.
Hermine E Veenstra-Knol8Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands.
Nicolette S den Hollander9Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Hans van Bokhoven2Donders Institute for Brain, Cognition and Behavior, Centre for Neuroscience, Radboud University, Nijmegen, the Netherlands.
Wouter Staal1Karakter Child and Adolescent Psychiatry University Centre, Nijmegen, the Netherlands.
Tjitske Kleefstra2Donders Institute for Brain, Cognition and Behavior, Centre for Neuroscience, Radboud University, Nijmegen, the Netherlands.
Radboud University Nijmegen · NLKarakter · NLRadboud University Medical Center · NLLeiden University Medical Center · NLUniversity Medical Center Groningen · NLVincent Van Gogh Voor Geestelijke Gezondheidszorg · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic defect affecting the euchromatin histone methyltransferase 1 ( Methods: Three adults (two males, one female) with a genetically confirmed diagnosis of Results: All three subjects achieved maximum total scores on the VABS, indicative of adequate (adaptive) functioning. In all, scores above cutoff were found on the ADOS for ASD and on the mini PAS-ADD for major depressive disorder (lifetime). Finally, results on the CANTAB showed impaired cognitive flexibility in all subjects. Conclusion: Individuals with

Indexed as

MosaicismAdultAsymptomatic DiseasesAutism Spectrum DisorderCognitive DysfunctionFemaleGerm-Line MutationHeterozygoteHistone-Lysine N-MethyltransferaseHumansMaleMood DisordersParentsEHMT1 protein, humanHistone-Lysine N-MethyltransferaseAutism spectrum disorderCognitionEHTM1Kleefstra syndromeMajor depressive disorderMosaicism

Identifiers

PMID29416845
PMCPMC5784506
OpenAlexW2789378616

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.