Evidence map›Paper›PMID 37493686›Full record

ArticleBMJ open ophthalmology2023

Multimorbidity due to novel pathogenic variants in the

Vanita Berry, Alexander Ionides, Michalis Georgiou, Roy A Quinlan, Michel Michaelides

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

Article in BMJ open ophthalmology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 30% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

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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 at 2 institutions in 1 country.

Vanita BerryGenetics, UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK, London, UK v.berry@ucl.ac.uk michel.michaelides@ucl.ac.uk r.a.quinlan@durham.ac.uk.ORCID 0000-0001-6008-8970
Alexander IonidesMoorfields Eye Hospital NHS Foundation Trust, London, EC1V 2PD, UK, London, UK.
Michalis GeorgiouGenetics, UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK, London, UK.ORCID 0000-0001-6397-8071
Roy A QuinlanDepartment of Biosciences, University of Durham, Upper Mountjoy Science Site, Durham DH1 3LE, UK, Durham, UK v.berry@ucl.ac.uk michel.michaelides@ucl.ac.uk r.a.quinlan@durham.ac.uk.ORCID 0000-0003-0644-4123
Michel MichaelidesGenetics, UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK, London, UK v.berry@ucl.ac.uk michel.michaelides@ucl.ac.uk r.a.quinlan@durham.ac.uk.ORCID 0000-0002-1552-7046
Moorfields Eye Hospital NHS Foundation Trust · GBDurham University · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundA five generation family has been analysed by whole exome sequencing (WES) for genetic associations with the multimorbidities of congenital cataract (CC), retinitis pigmentosa (RP) and Crohn's disease (CD).

methodsWES was performed for unaffected and affected individuals within the family pedigree followed by bioinformatic analyses of these data to identify disease-causing variants with damaging pathogenicity scores.

resultsA novel pathogenic missense variant in

conclusionsHere, we report multimorbidity in a family pedigree listed on a CC register, which broadens the spectrum of potential cataract associated genes to include both

Indexed as

CataractCrohn DiseaseRetinitis PigmentosaEye ProteinsHumansMicrotubule-Associated ProteinsMultimorbidityNod2 Signaling Adaptor ProteinEye ProteinsMicrotubule-Associated ProteinsNOD2 protein, humanNod2 Signaling Adaptor ProteinRP1 protein, humanGeneticsLens and zonulesRetinaVision

Identifiers

PMID37493686
PMCPMC10351282
OpenAlexW4384343846

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.