Evidence map›Paper›PMID 36672815›Full record

ArticleGenes2022

Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.

Jacob Lynn, Austin Raney, Nathaniel Britton, Josh Ramoin, Ryan W Yang, Bojana Radojevic, Cynthia K McClard, Ronald Kingsley, Razek Georges Coussa, Lea D Bennett

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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.7field-weighted citation impact, top 32% 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, 9 citations in OpenAlex.

  1. Article
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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

10 authors at 3 institutions in 1 country.

Jacob LynnDepartment of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
Austin RaneyCollege of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
Nathaniel BrittonCollege of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
Josh RamoinCollege of Osteopathic Medicine, Oklahoma State University, Stillwater, OK 74078, USA.
Ryan W YangCollege of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
Bojana RadojevicDepartment of Ophthalmology, University of Oklahoma Health Sciences Center, Dean McGee Eye Institute, Oklahoma City, OK 73104, USA.
Cynthia K McClardDepartment of Ophthalmology, University of Oklahoma Health Sciences Center, Dean McGee Eye Institute, Oklahoma City, OK 73104, USA.
Ronald KingsleyDepartment of Ophthalmology, University of Oklahoma Health Sciences Center, Dean McGee Eye Institute, Oklahoma City, OK 73104, USA.
Razek Georges CoussaDepartment of Ophthalmology, University of Oklahoma Health Sciences Center, Dean McGee Eye Institute, Oklahoma City, OK 73104, USA.
Lea D BennettDepartment of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
University of Oklahoma Health Sciences Center · USDean McGee Eye Institute · USOklahoma State University · US

Funding

Tracking and Evaluation CoreU54GM104938 · NIGMS · UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR · PI JUDITH A JAMES · 2013 to 2026
$68.2M
P30-CENTER CORE GRANT FOR VISION RESEARCHP30EY021725 · NEI · UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR · PI Michelle C Callegan · 2011 to 2026
$10.5M
Genotype phenotype associations in inherited retinal degenerationR00EY027460 · NEI · UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR · PI BENNETT, LEA D · 2018 to 2020
$747k
NEI NIH HHS L30 EY029523NEI NIH HHS P30 EY021725NEI NIH HHS R00 EY027460NIGMS NIH HHS U54 GM104938
6 · The paper itself

Abstract

The overlapping genetic and clinical spectrum in inherited retinal degeneration (IRD) creates challenges for accurate diagnoses. The goal of this work was to determine the genetic diagnosis and clinical features for patients diagnosed with an IRD. After signing informed consent, peripheral blood or saliva was collected from 64 patients diagnosed with an IRD. Genetic testing was performed on each patient in a Clinical Laboratory Improvement Amendments of 1988 (CLIA) certified laboratory. Mutations were verified with Sanger sequencing and segregation analysis when possible. Visual acuity was measured with a traditional Snellen chart and converted to a logarithm of minimal angle of resolution (logMAR). Fundus images of dilated eyes were acquired with the Optos

Indexed as

RetinaRetinal DegenerationGenetic Association StudiesGenetic TestingHumansMutationclinicalgenetic testinginherited retinal disease

Identifiers

PMID36672815
PMCPMC9859429
OpenAlexW4313244829

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.