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

Genetic Testing for Inherited Retinal Dystrophies: Genetic Reports.

Advances in experimental medicine and biology - 1 Jan 2025

Soucy Megan E

Abstract excerpt

Genetic varaitns are classified into five different categories based on likelihood of disease. These classifications help differentiate clincial importance of variants and when a genetic variant may be treatable. Additionally genetic teting reports should use international standardized language to ensure accuracy and that the variant can be re-identified in the indivdual in the future or in a relative. This...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Predisposition to Disease
Share to Genetic Testing
Share to Retinal Dystrophies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Terminology as Topic

Source

Identifiers

PMID: 40736859
DOI: 10.1007/978-3-031-72230-1_57

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Testing for Inherited Retinal Dystrophies: Genetic Reports.PMID 40736859Read ↗

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.Semantic proximity Read ↗

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

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

Genetic Testing for Inherited Retinal Dystrophies: Basic Understanding.Semantic proximity Read ↗

State of the Art on Inherited Retinal Dystrophies: Management and Molecular GeneticsSemantic proximity Read ↗

Unravelling the genetics of inherited retinal dystrophies: Past, present and futureSemantic proximity Read ↗

The current status of molecular diagnosis of inherited retinal dystrophies.Semantic proximity Read ↗

A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.Semantic proximity Read ↗

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

Genetics and ocular disorders: a focused review.Semantic proximity Read ↗

Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.Semantic proximity Read ↗

Molecular genetics of human retinal dystrophiesSemantic proximity Read ↗

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