Evidence map›Paper›PMID 35456422›Full record

ArticleGenes2022

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Julia Zhu, Kirk A J Stephenson, Adrian Dockery, Jacqueline Turner, James J O'Byrne, Susan Fitzsimon, G Jane Farrar, D Ian Flitcroft, David J Keegan

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 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.9field-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

6 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. IMI-Management and Investigation of High Myopia in Infants and Young Children.Investigative ophthalmology & visual science · 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

9 authors at 3 institutions in 1 country.

Julia ZhuMater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland.
Kirk A J StephensonMater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland.ORCID 0000-0002-7462-7725
Adrian DockeryNext Generation Sequencing Laboratory, Pathology Department, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland.ORCID 0000-0002-3423-2542
Jacqueline TurnerMater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland.
James J O'ByrneMater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland.
Susan FitzsimonOphthalmology Department, Children's University Hospital, Temple Street, D01 XD99 Dublin, Ireland.
G Jane FarrarThe School of Genetics & Microbiology, Trinity College Dublin, D02 PN40 Dublin, Ireland.
D Ian FlitcroftOphthalmology Department, Children's University Hospital, Temple Street, D01 XD99 Dublin, Ireland.
David J KeeganMater Clinical Ophthalmic Genetics Unit, The Mater Misericordiae University Hospital, D07 R2WY Dublin, Ireland.
Mater Misericordiae University Hospital · IETemple Street Children's University Hospital · IETrinity College Dublin · IE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.e., clinical and/or electrophysiologic) evidence suggestive of IRD were contacted for genetic testing during the SARS-CoV-2-19 pandemic using a "telegenetics" approach. Genetic testing approach was panel-based next generation sequencing (351 genes) via a commercial laboratory (Blueprint Genetics, Helsinki, Finland). Of 70 patient samples from 57 pedigrees undergoing genetic testing, a causative genetic variant(s) was detected for 60 patients (85.7%) from 47 (82.5%) pedigrees. Of the 60 genetically resolved IRD patients, 5% (

Indexed as

COVID-19Retinal DegenerationAntigens, NeoplasmCell Cycle ProteinsChildCytoskeletal ProteinsElectrophysiologyEye ProteinsGenetic TestingHumansSARS-CoV-2Antigens, NeoplasmCell Cycle ProteinsCep290 protein, humanCytoskeletal ProteinsEye ProteinsRPGR protein, humanachromatopsiainherited blindnessinherited retinal degenerationsLeber congenital amaurosispaediatric ophthalmologypanel-based next generation sequencingretinal dystrophyretinitis pigmentosa

Identifiers

PMID35456422
PMCPMC9033125
OpenAlexW4220912905

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.