Evidence map›Paper›PMID 34680937›Full record

ArticleGenes2021

Determinants of Disease Penetrance in

Samuel McLenachan, Dan Zhang, Janya Grainok, Xiao Zhang, Zhiqin Huang, Shang-Chih Chen, Khine Zaw, Alanis Lima, Luke Jennings, Danial Roshandel and 9 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
4.5field-weighted citation impact, top 5% 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

13 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Review
  6. OCT Biomarkers in a Cohort of Patients WithJournal of ophthalmology · 2025
    Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. From genetic variation to precision medicine.Cambridge prisms. Precision medicine · 2023
    Article
  12. A 69 kb Deletion in chr19q13.42 includingJournal of clinical medicine · 2022
    Article
  13. 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

19 authors at 4 institutions in 1 country.

Samuel McLenachanCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
Dan ZhangOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia.
Janya GrainokCentre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, WA 6150, Australia.
Xiao ZhangCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
Zhiqin HuangCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.ORCID 0000-0002-6958-4900
Shang-Chih ChenOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia.
Khine ZawOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia.ORCID 0000-0002-4121-1985
Alanis LimaCentre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, WA 6150, Australia.
Luke JenningsOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia.
Danial RoshandelCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.ORCID 0000-0002-6716-6406
Sang Yoon MoonOcular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia.
Rachael C Heath JefferyCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
Mary S AttiaCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.ORCID 0000-0001-8055-6671
Jennifer A ThompsonAustralian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.
Tina M LameyCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
Terri L McLarenCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
John De RoachCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
Sue FletcherCentre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, WA 6150, Australia.ORCID 0000-0002-8632-641X
Fred K ChenCentre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.ORCID 0000-0003-2809-9930
Lions Eye Institute · AUMurdoch University · AUThe University of Western Australia · AUSir Charles Gairdner Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Retinitis pigmentosa 11 (RP11) is caused by dominant mutations in

Indexed as

PenetranceAdolescentAdultAgedCells, CulturedChildEye ProteinsFemaleGenes, ModifierHumansMaleMiddle AgedPolymorphism, GeneticRetinaRetinitis PigmentosaScavenger Receptors, Class ACNOT3 protein, humanEye ProteinsMSR1 protein, humanPRPF31 protein, humanScavenger Receptors, Class ATranscription FactorsCNOT3induced pluripotent stem cellsMSR1non-penetrancePRPF31retinal organoidretinal pigment epitheliumretinitis pigmentosarod-cone dystrophyRP11

Identifiers

PMID34680937
PMCPMC8535263
OpenAlexW3203865492

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.