Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Utility of a Genetic Screening Panel in Patients With Suspected Inherited Retinal Dystrophies.

Ophthalmic surgery, lasers & imaging retina - 1 Jun 2020

McGowan Heather, Madreperla Olivia R, Snyder Alexandra L, Fine Howard F

Abstract excerpt

BACKGROUND AND OBJECTIVE: To evaluate disease characteristics and frequencies of genetic mutations in a cohort of patients with known or suspected retinal dystrophies. PATIENTS AND METHODS: A cohort of 37 patients with known or suspected retinal dystrophies received genetic testing with a panel of 31 genes known to result in the development of retinal dystrophies. Disease characteristics identified during chart...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Aged
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genetic Predisposition to Disease

Share to Genetic Testing

Share to Retinal Dystrophies

Share to Young Adult

Source

Identifiers

PMID: 32579692
DOI: 10.3928/23258160-20200603-04

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Utility of a Genetic Screening Panel in Patients With Suspected Inherited Retinal Dystrophies.PMID 32579692Read ↗

Genetic testing for inherited retinal degenerations: Triumphs and tribulations.Semantic proximity Read ↗

Molecular genetic diagnostics for inherited retinal dystrophies in the clinical setting.Semantic proximity Read ↗

Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.Semantic proximity Read ↗

[Genetic diagnostic testing in inherited retinal dystrophies].Semantic proximity Read ↗

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.Semantic proximity Read ↗

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.Semantic proximity Read ↗

Genetic testing and diagnosis of inherited retinal diseases.Semantic proximity Read ↗

Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a DiagnosisSemantic proximity Read ↗

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.Semantic proximity Read ↗

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.Semantic proximity Read ↗

The Current State of Genetic Testing Platforms for Inherited Retinal Diseases.Semantic proximity Read ↗

Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.