ArticleClinical genetics2013
eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing.
Article in Clinical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Impact of biobanks on research outcomes in rare diseases: a systematic review.Orphanet journal of rare diseases · 2018Pooled it
- Review
- Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.Genes · 2022Article
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.Human mutation · 2020Article
- Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
- Review
- Cone Structure Persists Beyond Margins of Short-Wavelength Autofluorescence in Choroideremia.Investigative ophthalmology & visual science · 2019Article
- NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.Scientific reports · 2015Article
- Mutations in human IFT140 cause non-syndromic retinal degeneration.Human genetics · 2015Article
- Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease.Progress in retinal and eye research · 2015Review
- Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.Investigative ophthalmology & visual science · 2014Article
- Immunology of AAV-Mediated Gene Transfer in the Eye.Frontiers in immunology · 2013Review
- Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.Genome medicine · 2013Review
- Survey of genetic testing, community involvement, and vision care in Albinism.The journal of medicine accessArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
Molecular genetics and genomics are revolutionizing the study and treatment of inherited eye diseases. In recognition of the impact of molecular genetics on vision and ophthalmology, the National Eye Institute established the National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®) as a multidirectional research initiative whereby a clinical component for patients diagnosed with inherited eye disease fosters research into the causes and mechanisms of these ophthalmic diseases. This is accomplished by broadening access to genetic diagnostic testing and maintaining a repository of DNA samples from clinically characterized individuals and their families to allow investigations of the causes, interventions, and management of genetic eye disorders. The eyeGENE® Network currently includes Clinical Laboratory Improvement Amendments (CLIA)-certified diagnostic laboratory partners, over 270 registered clinical organizations with 500 registered users from around the United States and Canada, and is now testing approximately 100 genes representing 35 inherited eye diseases. To date, the Network has received 4400 samples from individuals with rare inherited eye diseases, which are available for access by the vision research community. eyeGENE® is a model partnership between the U.S. federal government, eye health care providers, CLIA-approved molecular diagnostic laboratories, private industry, and scientists who represent a broad research constituency.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.