Evidence map›Paper›PMID 30205741›Full record

ReviewTranscription2019

Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes.

Félix-Antoine Bérubé-Simard, Nicolas Pilon

Open access · bronzeAbstract readReview
In one paragraph

Review in Transcription, 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
1.3field-weighted citation impact, top 19% 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, 21 citations in OpenAlex.

  1. International journal of molecular sciences · 2026
    Review
  2. Article
  3. Article
  4. Article
  5. Review
  6. Review
  7. Article
  8. Article
  9. Review
  10. Article
  11. Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.American journal of medical genetics. Part C, Seminars in medical genetics · 2020
    Review
  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

2 authors at 1 institution in 1 country.

Félix-Antoine Bérubé-Simarda Laboratoire de génétique moléculaire du développement, Département des sciences biologiques , Université du Québec à Montréal (UQAM) , Montréal , QC , Canada.
Nicolas Pilona Laboratoire de génétique moléculaire du développement, Département des sciences biologiques , Université du Québec à Montréal (UQAM) , Montréal , QC , Canada.ORCID 0000-0003-3641-0776
Université du Québec à Montréal · CA

Funding

CIHR
6 · The paper itself

Abstract

CHARGE syndrome is characterized by co-occurrence of multiple malformations due to abnormal development of neural crest cells. Here, we review the phenotypic and molecular overlap between CHARGE syndrome and similar pathologies, and further discuss the observation that neural crest cells appear especially sensitive to malfunction of the chromatin-transcription-splicing molecular hub.

Indexed as

Alternative SplicingCHARGE SyndromeHumansModels, GeneticNeural CrestTranscription, GeneticAlternative splicingCHARGE syndromeChromatinNeural crest cellsNeurocristopathiesSpliceosomopathies

Identifiers

PMID30205741
PMCPMC6351119
OpenAlexW2890135216

What OpenQuestion holds

Textmetadata
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.