Evidence map›Paper›PMID 35456500›Full record

ArticleGenes2022

Expanding the Phenotype of B3GALNT2-Related Disorders.

Erika D'haenens, Sarah Vergult, Björn Menten, Annelies Dheedene, R Frank Kooy, Bert Callewaert

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
0.8field-weighted citation impact, top 32% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.

  1. Pooled it
  2. Distinct O-Linked Glycosylation Systems in Signaling and Immune Regulation.International journal of molecular sciences · 2026
    Review
  3. Review
  4. Pathogenic mechanisms and clinical insights intoJournal of neuromuscular diseases · 2025
    Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Uniparental disomy for chromosome 1 withFrontiers in genetics · 2023
    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

6 authors at 2 institutions in 1 country.

Erika D'haenensCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
Sarah VergultCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
Björn MentenCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
Annelies DheedeneCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
R Frank KooyCenter for Medical Genetics, Antwerp University Hospital, 2650 Edegem, Belgium.ORCID 0000-0003-2024-0485
Bert CallewaertCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.ORCID 0000-0002-9743-4205
Ghent University Hospital · BEAntwerp University Hospital · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) that include a broad phenotypic spectrum ranging from late-onset limb-girdle muscular dystrophy to severe muscle-eye-brain disease, Walker-Warburg syndrome, and Fukuyama congenital muscular dystrophy. In addition to clinical heterogeneity, CMDs are characterized by genetic heterogeneity. To date, 18 genes have been associated with CMDs. One of them is

Indexed as

Autism Spectrum DisorderMuscular DystrophiesMuscular Dystrophies, Limb-GirdleN-AcetylgalactosaminyltransferasesDystroglycansHumansPhenotypeB3GALNT2 protein, humanDystroglycansN-AcetylgalactosaminyltransferasesB3GLANT2congenital muscular dystrophydystroglycanopathiesFukuyama congenital muscular dystrophymuscle–eye–brain diseaseuniparental disomyWalker–Warburg syndromewhole-exome sequencing

Identifiers

PMID35456500
PMCPMC9024883
OpenAlexW4224093315

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.