Evidence map›Paper›PMID 33138239›Full record

ArticleGenes2020

Novel Pathogenic Sequence Variants in

Saoud Al-Khuzaei, Suzanne Broadgate, Stephanie Halford, Jasleen K Jolly, Morag Shanks, Penny Clouston, Susan M Downes

Open access · goldAbstract readCase Reports
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 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.6field-weighted citation impact, top 34% 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

7 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Review
  6. Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022
    Review
  7. Next-Generation Sequencing Applications for Inherited Retinal Diseases.International journal of molecular sciences · 2021
    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.

Saoud Al-KhuzaeiOxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.
Suzanne BroadgateNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK.
Stephanie HalfordNuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Level 6 John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK.ORCID 0000-0003-2179-907X
Jasleen K JollyOxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.ORCID 0000-0001-9878-4621
Morag ShanksOxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.
Penny CloustonOxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.
Susan M DownesOxford Eye Hospital, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.
John Radcliffe Hospital · GBOxford University Hospitals NHS Trust · GB

Funding

Department of Health ICA-CDRF-2016-02-002
6 · The paper itself

Abstract

A retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having

Indexed as

MutationAgedChildEye Diseases, HereditaryFemaleHumansMaleNight BlindnessOrphan Nuclear ReceptorsPedigreeRetinal DegenerationRetinal DystrophiesRetinitis PigmentosaVisual FieldsNR2E3 protein, humanOrphan Nuclear Receptorsautosomal recessive and autosomal dominant retinitis pigmentosaellipsoid zoneenhanced S-cone syndromeGoldmann–Favre syndromeinherited retinal degenerationNR2E3pigmentary clumpingretinal dystrophy

Identifiers

PMID33138239
PMCPMC7716234
OpenAlexW3095510539

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.