Evidence map›Paper›PMID 35400991›Full record

ArticleMolecular vision2022

Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.

Samer Khateb, Aya Shemesh, Ashly Offenheim, Ruth Sheffer, Tamar Ben-Yosef, Itay Chowers, Rina Leibu, Britta Baumann, Bernd Wissinger, Susanne Kohl and 2 more

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

Article in Molecular vision, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 53% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. NovelInternational journal of molecular sciences · 2022
    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

12 authors at 5 institutions in 2 countries.

Samer KhatebDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Israel.
Aya ShemeshDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Israel.
Ashly OffenheimDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Israel.
Ruth ShefferDepartment of Genetics, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Israel.
Tamar Ben-YosefRappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Itay ChowersDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Israel.
Rina LeibuDepartment of Ophthalmology, Rambam Health Care Campus, Haifa, Israel.
Britta BaumannInstitute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.
Bernd WissingerInstitute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.
Susanne KohlInstitute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.
Eyal BaninDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Israel.
Dror SharonDepartment of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Israel.
Hebrew University of Jerusalem · ILSTZ eyetrial · DERambam Health Care Campus · ILTechnion – Israel Institute of Technology · ILUniversity of Tübingen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Blue cone monochromacy (BCM) is an X-linked retinopathy caused by mutations in the red and green cone opsin genes. The aim of this study was to establish the clinical, genetic, and electrophysiological characteristics of a specific form of BCM. Methods: Patients harboring mutations in the Results: Twenty-five patients harboring various haplotypes in exon 3 of the Conclusions: The present study included genetic and clinical data from the largest cohort of patients with exon 3 haplotypes that were previously shown to cause missplicing of the

Indexed as

Color Vision DefectsCone OpsinsMyopiaElectroretinographyHaplotypesHumansPedigreePhenotypeCone Opsins

Identifiers

PMID35400991
PMCPMC8942453
OpenAlexW4226040790

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.