Evidence map›Paper›PMID 36036427›Full record

ArticleOphthalmic genetics2023

MERTK missense variants in three patients with retinitis pigmentosa.

Federica E Poli, Imran H Yusuf, Penny Clouston, Morag Shanks, Jennifer Whitfield, Peter Charbel Issa, Robert E MacLaren

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Ophthalmic genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 38% 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, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

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

7 authors at 2 institutions in 1 country.

Federica E PoliNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.ORCID 0000-0002-0050-4386
Imran H YusufNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Penny CloustonOxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Morag ShanksOxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Jennifer WhitfieldOxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Peter Charbel IssaNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Robert E MacLarenNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Nuffield Orthopaedic Centre · GBOxford University Hospitals NHS Trust · GB

Funding

Department of HealthMedical Research Council MR/R000735/1
6 · The paper itself

Abstract

backgroundMATERIALS AND

methodsAll patients underwent a full clinical examination, fundus photography, short-wavelength fundus autofluorescence and optical coherence tomography imaging. Two patients also underwent Goldmann visual field testing and electroretinography was undertaken for the third patient. Molecular genetic testing was undertaken using next generation or whole-exome sequencing with all variants confirmed by Sanger sequencing.

resultsThe first patient was a 29-year-old female heterozygous for a missense variant (c.1133C>T, p.Thr378 Met) and a nonsense variant (c.1744_1751delinsT, p.Ile582Ter) in

conclusionsWe report three missense variants in

Indexed as

c-Mer Tyrosine KinaseRetinal DegenerationRetinitis PigmentosaElectroretinographyFemaleHumansMaleMutationMutation, MissensePedigreeRetinaTomography, Optical Coherencec-Mer Tyrosine KinaseMERTK protein, humanCRISPR-Casgene therapyMERTKmutationRetinitis pigmentosa

Identifiers

PMID36036427
PMCPMC9615558
OpenAlexW4293441711

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.