Evidence map›Paper›PMID 38396730›Full record

ArticleInternational journal of molecular sciences2024

Novel Genetic and Phenotypic Expansion in Ameliorated

Emily Baum, Wenming Huang, Catherine Vincent-Delorme, Perrine Brunelle, Adam Antebi, Hormos Salimi Dafsari

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2024. 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
4.4field-weighted citation impact, top 6% 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, 8 citations in OpenAlex.

  1. Vitamin BNature communications · 2026
    Article
  2. Article
  3. International journal of molecular sciences · 2026
    Review
  4. Vitamin BResearch square · 2025
    Article
  5. Article
  6. Article
  7. Article
  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

6 authors at 4 institutions in 3 countries.

Emily BaumDepartment of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.
Wenming HuangMax-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.
Catherine Vincent-DelormeClinical Genetics Unit Guy Fontaine, University Hospital of Lille, F-59037 Lille, France.ORCID 0009-0007-2194-5176
Perrine BrunelleInstitut de Génétique Médicale, University of Lille, ULR7364 RADEME, CHU Lille, F-59000 Lille, France.ORCID 0000-0002-3589-6885
Adam AntebiMax-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.
Hormos Salimi DafsariDepartment of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.ORCID 0000-0003-3483-5009
Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases · DEUniversité de Lille · FRSt Thomas' Hospital · GBUniversity of Cologne · DE

Funding

Deutsche Forschungsgemeinschaft 413543196
6 · The paper itself

Abstract

Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene (

Indexed as

ColobomaNeurodevelopmental DisordersHumansMutation, MissensePhenotypeRepressor ProteinsRNA Splicing Factorspoly-U binding splicing factor 60KDaRepressor ProteinsRNA Splicing Factorsimmunological disordersneurodevelopmental disordersPUF60Verheij syndrome

Identifiers

PMID38396730
PMCPMC10889399
OpenAlexW4391670679

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.