Evidence map›Paper›PMID 33504991›Full record

ArticleEuropean journal of human genetics : EJHG2021

Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update.

Abdullah Aamir, Helen J Kuht, Karen Grønskov, Brian P Brooks, Mervyn G Thomas

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–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

5 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Fond farewell to clinical utility gene cards.European journal of human genetics : EJHG · 2021
    Article
  5. Genes · 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

5 authors.

Abdullah AamirThe University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester, LE2 7LX, UK.
Helen J KuhtThe University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester, LE2 7LX, UK.
Karen GrønskovRigshospitalet, Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup, Denmark.ORCID http://orcid.org/0000-0002-2341-1326
Brian P BrooksOphthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD, USA.
Mervyn G ThomasThe University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester, LE2 7LX, UK. mt350@le.ac.uk.ORCID http://orcid.org/0000-0002-4630-1234

Funding

Understanding the pathogenesis of and identifying treatments for albinismZIAEY000470 · NEI · NATIONAL EYE INSTITUTE · PI BROOKS, BRIAN · 2009 to 2025
$12.6M
Department of Health CL-2017-11-003Medical Research Council
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Albinism, OcularAlbinism, OculocutaneousGenetic HeterogeneityGenetic LociGenetic TestingHumansMutationSensitivity and Specificity

Identifiers

PMID33504991
PMCPMC8484472

What OpenQuestion holds

Textmetadata
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.