Evidence map›Paper›PMID 31439632›Full record

ArticleLife science alliance2019

Heterozygous loss of function of

Matilda R Jackson, Karagh E Loring, Claire C Homan, Monica Hn Thai, Laura Määttänen, Maria Arvio, Irma Jarvela, Marie Shaw, Alison Gardner, Jozef Gecz and 1 more

Open access · goldAbstract read
In one paragraph

Article in Life science alliance, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
3.0field-weighted citation impact, top 8% 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

12 citing papers in PubMed, 22 citations in OpenAlex.

  1. Article
  2. Natural Course ofChildren (Basel, Switzerland) · 2023
    Article
  3. Molecular Insights into IQSEC2 Disease.International journal of molecular sciences · 2023
    Review
  4. Article
  5. Review
  6. Frontiers in molecular neuroscience · 2022
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. 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

11 authors at 5 institutions in 2 countries.

Matilda R JacksonIntellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia.
Karagh E LoringIntellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia.
Claire C HomanDepartment of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia.
Monica Hn ThaiIntellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia.
Laura MäättänenDepartment of Child Neurology, Turku University Hospital, Turku, Finland.
Maria ArvioDepartment of Child Neurology, Turku University Hospital, Turku, Finland.ORCID 0000-0002-2571-7118
Irma JarvelaDepartment of Medical Genetics, University of Helsinki, Helsinki, Finland.
Marie ShawDepartment of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia.
Alison GardnerDepartment of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia.
Jozef GeczDepartment of Paediatrics, Robinson Research Institute, University of Adelaide, Adelaide, Australia.ORCID 0000-0002-7884-6861
Cheryl ShoubridgeIntellectual Disability Research, Adelaide Medical School, The University of Adelaide, Adelaide, Australia Cheryl.shoubridge@adelaide.edu.au.ORCID 0000-0002-0157-3084
The University of Adelaide · AUOulu University Hospital · FISouth Australian Health and Medical Research Institute · AUTurku University Hospital · FIUniversity of Helsinki · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Clinical presentations of mutations in the

Indexed as

ADP-Ribosylation Factor 6ADP-Ribosylation FactorsAgedAnimalsAutistic DisorderBrainDisease Models, AnimalFemaleGuanine Nucleotide Exchange FactorsHumansIntellectual DisabilityLoss of HeterozygosityMaleMiceMice, Inbred C57BLMice, KnockoutADP-Ribosylation Factor 6ADP-Ribosylation FactorsARF6 protein, humanArf6 protein, mouseGuanine Nucleotide Exchange FactorsIQSEC2 protein, humanIQSEC2 protein, mouseNerve Tissue Proteins

Identifiers

PMID31439632
PMCPMC6706959
OpenAlexW2969288593

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.