Evidence map›Paper›PMID 33353011›Full record

ArticleGenes2020

Bi-Allelic Pathogenic Variations in

Cathrine Jespersgaard, Mette Bertelsen, Farah Arif, Helene Gry Gellert-Kristensen, Mingyan Fang, Hanne Jensen, Thomas Rosenberg, Zeynep Tümer, Lisbeth Birk Møller, Karen Brøndum-Nielsen and 1 more

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

Article in Genes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.8field-weighted citation impact, top 30% 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

6 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022
    Review
  6. 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

11 authors at 2 institutions in 2 countries.

Cathrine JespersgaardKennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, 2600 Glostrup, Denmark.
Mette BertelsenKennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, 2600 Glostrup, Denmark.
Farah ArifDepartment of Ophthalmology, Rigshospitalet-Glostrup, University of Copenhagen, 2600 Glostrup, Denmark.
Helene Gry Gellert-KristensenKennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, 2600 Glostrup, Denmark.
Mingyan FangBGI-Shenzhen, Shenzhen 518083, China.
Hanne JensenDepartment of Ophthalmology, Rigshospitalet-Glostrup, University of Copenhagen, 2600 Glostrup, Denmark.
Thomas RosenbergDepartment of Ophthalmology, Rigshospitalet-Glostrup, University of Copenhagen, 2600 Glostrup, Denmark.
Zeynep TümerKennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, 2600 Glostrup, Denmark.
Lisbeth Birk MøllerKennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, 2600 Glostrup, Denmark.ORCID 0000-0002-9524-4301
Karen Brøndum-NielsenKennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, 2600 Glostrup, Denmark.
Karen GrønskovKennedy Center, Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, 2600 Glostrup, Denmark.
University of Copenhagen · DKBGI Group (China) · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Bi-allelic pathogenic variants in

Indexed as

AdolescentAdultAge of OnsetAllelesCausalityChildc-Mer Tyrosine KinaseDiagnostic Techniques, OphthalmologicalDisease ProgressionDNA Copy Number VariationsExonsFemaleGene DeletionHearing LossHigh-Throughput Nucleotide SequencingHumansc-Mer Tyrosine KinaseMERTK protein, humanCNVMERTKretinitis pigmentosa

Identifiers

PMID33353011
PMCPMC7766129
OpenAlexW3116517086

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.