Evidence map›Paper›PMID 32587456›Full record

ArticleMolecular vision2020

Clinical heterogeneity in retinitis pigmentosa caused by variants in

Muawyah Al-Bdour, Svenja Pauleck, Zain Dardas, Raghda Barham, Dema Ali, Sami Amr, Lina Mustafa, Mohammed Abu-Ameerh, Ranad Maswadi, Belal Azab and 1 more

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PubMed Full text at PMC
In one paragraph

Article in Molecular vision, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 35% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022
    Review
  4. Retinitis Punctata Albescens andOphthalmology science · 2021
    Article
  5. 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 2 institutions in 2 countries.

Muawyah Al-BdourOphthalmology Department, Jordan University Hospital, The University of Jordan, Amman, Jordan.
Svenja PauleckMedical Department, The University of Leipzig, Germany.
Zain DardasDepartment of Pathology, Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, Jordan.
Raghda BarhamCell Therapy Center, The University of Jordan, Amman, Jordan.
Dema AliCell Therapy Center, The University of Jordan, Amman, Jordan.
Sami AmrDepartment of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Lina MustafaDepartment of Pathology, Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, Jordan.
Mohammed Abu-AmeerhOphthalmology Department, Jordan University Hospital, The University of Jordan, Amman, Jordan.
Ranad MaswadiDepartment of Ophthalmology St Thomas' Hospital, London, UK.
Belal AzabDepartment of Pathology, Microbiology and Forensic Medicine, School of Medicine, The University of Jordan, Amman, Jordan.
Abdalla AwidiCell Therapy Center, The University of Jordan, Amman, Jordan.
University of Jordan · JOHarvard University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: The aim of this study is to identify disease-causing variants in five consanguineous Jordanian families with a history of autosomal recessive retinitis pigmentosa (RP), and to investigate the clinical variability across the affected individuals. Methods: Exome sequencing (ES) and ophthalmic examinations were performed to classify the underlying RP-causative variants and their pathogenic consequences. The candidate variants in the affected and unaffected family members underwent segregation analyses with Sanger sequencing. Results: We described four variants in the Conclusions: This study extends the pathogenic variant spectrum for the

Indexed as

AdultCarrier ProteinsConsanguinityDNA Mutational AnalysisElectroretinographyExome SequencingFamilyFemaleFundus OculiGenetic Predisposition to DiseaseGenotypeHumansJordanMaleMicrotubule-Associated ProteinsMiddle Aged11-cis-retinal-binding proteinCarrier ProteinsMicrotubule-Associated ProteinsRP1 protein, human

Identifiers

PMID32587456
PMCPMC7305691
OpenAlexW3037557334

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.