Evidence map›Paper›PMID 38790159›Full record

ArticleGenes2024

Mutations in

Cansu de Muijnck, Jacoline B Ten Brink, Hugoline G de Haan, Richard J Rodenburg, Nicole I Wolf, Arthur A Bergen, Camiel J F Boon, Maria M van Genderen

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. 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

8 authors.

Cansu de MuijnckDepartment of Ophthalmology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.ORCID 0000-0003-0161-5851
Jacoline B Ten BrinkDepartment of Human Genetics, Section Ophthalmogenetics, Amsterdam University Medical Centers, Location AMC, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0001-7884-0067
Hugoline G de HaanDepartment of Human Genetics, Amsterdam University Medical Centers, Location VU, 1081 HV Amsterdam, The Netherlands.
Richard J RodenburgRadboud Center for Mitochondrial Medicine, Departments of Pediatrics and Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-5227-3527
Nicole I WolfDepartment of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Location VU, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0003-1721-0728
Arthur A BergenDepartment of Human Genetics, Section Ophthalmogenetics, Amsterdam University Medical Centers, Location AMC, 1105 AZ Amsterdam, The Netherlands.
Camiel J F BoonDepartment of Ophthalmology, Amsterdam University Medical Centers, Location AMC, 1105 AZ Amsterdam, The Netherlands.
Maria M van GenderenDepartment of Ophthalmology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.ORCID 0000-0002-9286-8397

Funding

Bartimeus Fonds 1219277
6 · The paper itself

Abstract

Inherited optic neuropathies (IONs) are rare genetic diseases characterized by progressive visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next-generation sequencing panels has a diagnostic yield of about forty percent. In the other 60% of the patients with a clinical diagnosis of ION, the underlying genetic variants remain unknown. In this case study, we describe a potentially new disease-associated gene,

Indexed as

MethyltransferasesOptic Nerve DiseasesAdultChildFemaleHumansMitochondriaMutationPedigreeMethyltransferasesNSUN3 protein, humaninherited optic neuropathyNSUN3optic atrophy

Identifiers

PMID38790159
PMCPMC11121614

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.