Evidence map›Paper›PMID 31819025›Full record

ArticleJournal of genetics2019

A

Stephanie Efthymiou, Vincenzo Salpietro, Erica Pironti, Maria Bonsignore, Valentina Ferrazzoli, Gabriella Di Rosa, Henry Houlden

Open access · greenAbstract readCase Reports
PubMed Full text at PMC
In one paragraph

Article in Journal of genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 23% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Review
  3. AFrontiers in pediatrics · 2021
    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 at 3 institutions in 2 countries.

Stephanie EfthymiouDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1N 3BG, UK. h.houlden@ucl.ac.uk.
Vincenzo Salpietro
Erica Pironti
Maria Bonsignore
Valentina Ferrazzoli
Gabriella Di Rosa
Henry Houlden
University College London · GBUniversity of Messina · ITUniversity of Rome Tor Vergata · IT

Funding

Medical Research Council G0802760Medical Research Council G1001253Medical Research Council G108/638Medical Research Council MR/S01165X/1The Dunhill Medical Trust R605/0717Wellcome Trust 093205Wellcome Trust 104033
6 · The paper itself

Abstract

Mutations in genes involved in chromatin remodelling have been implicated in broad phenotypes of congenital abnormalities and neurodevelopment. However, limited genotype-phenotype correlations are available for some of the rarest genetic disorders that affect chromatin regulation. We hereby describe a 12-year-old girl presented at birth with severe hypotonia, developmental delay, a mid-line capillary malformation and distinctive craniofacial features. During the natural history of her disease, the girl developed severe spasticity and drug-resistant seizures, leading to a diagnosis of Bohring-Opitz syndrome (BOS). We performed whole-exome sequencing (WES) and identified a

Indexed as

MutationBase SequenceBrainChildCodon, NonsenseCraniosynostosesExome SequencingFemaleGenetic Association StudiesGenetic Diseases, InbornGenetic Predisposition to DiseaseHumansIntellectual DisabilityMuscle HypotoniaPedigreePhenotypeASXL1 protein, humanCodon, NonsenseRepressor Proteins

Identifiers

PMID31819025
PMCPMC7116628
OpenAlexW2990318886

What OpenQuestion holds

Textmetadata
LicenceTDM
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.