Evidence map›Paper›PMID 35627310›Full record

ArticleGenes2022

Clinical Phenotypes of

Volha V Malechka, Catherine A Cukras, Emily Y Chew, Yuri V Sergeev, Delphine Blain, Brett G Jeffrey, Ehsan Ullah, Robert B Hufnagel, Brian P Brooks, Laryssa A Huryn and 1 more

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

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.7field-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

8 citing papers in PubMed, 11 citations in OpenAlex.

  1. Review
  2. Genes · 2026
    Article
  3. Frontiers in ophthalmology · 2026
    Article
  4. Article
  5. Article
  6. Posterior segment findings in a patient with aAmerican journal of ophthalmology case reports · 2024
    Article
  7. Article
  8. Longitudinal Structure-Function Evaluation in a Patient withDiagnostics (Basel, Switzerland) · 2023
    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

11 authors at 1 institution in 1 country.

Volha V MalechkaOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Catherine A CukrasOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Emily Y ChewOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Yuri V SergeevOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-7204-6572
Delphine BlainOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-9275-5827
Brett G JeffreyOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Ehsan UllahOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-0107-6608
Robert B HufnagelOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0003-3015-3545
Brian P BrooksOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Laryssa A HurynOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Wadih M ZeinOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-3771-6120
National Institutes of Health · US

Funding

Proteins From Hereditary Eye Diseases: In-silico and Experimental StudiesZIAEY000476 · NEI · NATIONAL EYE INSTITUTE · PI SERGEEV, YURI · 2009 to 2025
$16.8M
Clinical ophthalmic molecular diagnostics and discoveryZIAEY000564 · NEI · NATIONAL EYE INSTITUTE · PI GUAN, BIN · 2019 to 2025
$7.9M
Ophthalmic Genetics FellowshipZIEEY000477 · NEI · NATIONAL EYE INSTITUTE · PI HURYN, LARYSSA · 2009 to 2025
$7.2M
NEI Intramural Biorepository for Retinal Diseases (12-EI-0042)ZIAEY000514 · NEI · NATIONAL EYE INSTITUTE · PI KEENAN, TIARNAN · 2012 to 2025
$2.0M
6 · The paper itself

Abstract

The retinal dystrophy phenotype associated with

Indexed as

Cadherin Related ProteinsCone-Rod DystrophiesNerve Tissue ProteinsRetinal DystrophiesCadherinsElectroretinographyHumansMutationPhenotypeCadherin Related ProteinsCadherinsCDHR1 protein, humanNerve Tissue Proteinsautosomal recessive retinal dystrophiesCDHR1retinal dystrophy

Identifiers

PMID35627310
PMCPMC9140808
OpenAlexW4281261186

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.