Evidence map›Paper›PMID 34573277›Full record

ArticleGenes2021

Biallelic

Natalie Young, Maria Asif, Matthew Jackson, Daniel Martín Fernández-Mayoralas, Mar Jimenez de la Peña, Beatriz Calleja-Pérez, Sara Álvarez, Eve Hunter-Featherstone, Angelika A Noegel, Wolfgang Höhne and 5 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.8field-weighted citation impact, top 29% 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

8 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. An Intronic HeterozygousMuscles (Basel, Switzerland) · 2024
    Article
  7. Review
  8. 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

15 authors at 6 institutions in 3 countries.

Natalie YoungDepartment of Biosciences, University of Durham, South Road, Durham DH1 3LE, UK.
Maria AsifCologne Center for Genomics (CCG), University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Matthew JacksonDepartment of Biosciences, University of Durham, South Road, Durham DH1 3LE, UK.ORCID 0000-0003-4916-3719
Daniel Martín Fernández-MayoralasDepartment of Pediatric Neurology, Hospital Universitario Quirónsalud, 28223 Madrid, Spain.
Mar Jimenez de la PeñaDepartment of Pediatric Neurology, Hospital Universitario Quirónsalud, 28223 Madrid, Spain.
Beatriz Calleja-PérezPediatric Primary Care, C. S. Doctor Cirajas, 28017 Madrid, Spain.
Sara ÁlvarezDepartment of Genomics and Medicine, Genomics and Medicine, NIMGenetics, 28108 Madrid, Spain.
Eve Hunter-FeatherstoneDepartment of Biosciences, University of Durham, South Road, Durham DH1 3LE, UK.
Angelika A NoegelCenter for Biochemistry, Medical Faculty, University of Cologne, 50931 Cologne, Germany.ORCID 0000-0001-8260-6732
Wolfgang HöhneCologne Center for Genomics (CCG), University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
Peter NürnbergCologne Center for Genomics (CCG), University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.ORCID 0000-0002-7228-428X
Boguslaw ObaraSchool of Computing, Newcastle University, Newcastle upon Tyne NE4 5TG, UK.
Muhammad Sajid HussainCologne Center for Genomics (CCG), University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.ORCID 0000-0002-1353-8809
Iakowos KarakesisoglouDepartment of Biosciences, University of Durham, South Road, Durham DH1 3LE, UK.
Alberto Fernández-JaénSchool of Medicine, Universidad Europea de Madrid, 28670 Madrid, Spain.ORCID 0000-0003-3306-9832
University of Cologne · DEDurham University · GBHospital Universitario Quirónsalud Madrid · ESMadrid Health Service · ESNewcastle University · GBUniversidad Europea de Madrid · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a group of neurological and developmental disabilities characterised by clinical and genetic heterogeneity. The current study aimed to expand ASD genotyping by investigating potential associations with

Indexed as

Autism Spectrum DisorderCells, CulturedChildHeterozygoteHumansIntellectual DisabilityMaleMicrofilament ProteinsMutation, MissenseNerve Tissue ProteinsProtein DomainsProtein TransportMicrofilament ProteinsNerve Tissue ProteinsSYNE2 protein, humanautismintellectual disabilityLINC complexnesprin-2 giantneurodevelopmentspectrin repeat 5SYNE2

Identifiers

PMID34573277
PMCPMC8470961
OpenAlexW3194936998

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.