Evidence map›Paper›PMID 38292179›Full record

ArticleGenes & diseases2024

A novel homozygous missense variant in

Miao Sun, Cornelia K Kaminsky, Philip Deppe, Mai-Britt Ilse, Frédéric M Vaz, Barbara Plecko, Torben Lübke, Linda M Randolph

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes & diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.2field-weighted citation impact, top 21% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Review
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

8 authors at 4 institutions in 4 countries.

Miao SunDivision of Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA.
Cornelia K KaminskyDepartment of Radiology, Children's Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA.
Philip DeppeDepartment of Chemistry, Biochemistry, Bielefeld University, Bielefeld 33615, Germany.
Mai-Britt IlseDepartment of Chemistry, Biochemistry, Bielefeld University, Bielefeld 33615, Germany.
Frédéric M VazAmsterdam UMC Location University of Amsterdam, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam 1100 DE, the Netherlands.
Barbara PleckoDepartment of Pediatrics, Division of General Pediatrics, Medical University of Graz, Graz 8036, Austria.
Torben LübkeDepartment of Chemistry, Biochemistry, Bielefeld University, Bielefeld 33615, Germany.
Linda M RandolphDivision of Medical Genetics, Department of Pediatrics, Children's Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA.
Bielefeld University · DEChildren's Hospital of Los Angeles · USEmma Kinderziekenhuis · NLMedical University of Graz · AT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID38292179
PMCPMC10825285
OpenAlexW4383742696

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.