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

Highly efficient capture approach for the identification of diverse inherited retinal disorders

9 Jan 2024

Abstract excerpt

Our study presents a 319-gene panel targeting inherited retinal dystrophy (IRD) genes. Through a multi-center retrospective cohort study, we validated the assay's effectiveness and clinical utility and characterized the mutation spectrum of Taiwanese IRD patients. Between January 2018 and May 2022, 493 patients in 425 unrelated families, all initially suspected of having IRD without prior genetic diagnoses,...

Read the complete abstract on PubMed

Topics

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

Share to Retinal and Optic Conditions
Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38195571
DOI: 10.1038/s41525-023-00388-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Highly efficient capture approach for the identification of diverse inherited retinal disordersPMID 38195571Read ↗

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.Semantic proximity Read ↗

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal GenesSemantic proximity Read ↗

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

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan.Semantic proximity Read ↗

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

Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseasesSemantic proximity Read ↗

Nationwide genetic analysis of more than 600 families with inherited eye diseases in ArgentinaSemantic proximity Read ↗

The Genetic Landscape and Epidemiological Characteristics of Inherited Retinal Diseases in the Chinese PopulationSemantic proximity Read ↗

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.Semantic proximity Read ↗

Nationwide genetic analysis of more than 600 families with inherited eye diseases in ArgentinaSemantic proximity Read ↗

Clinical Exome Sequencing for Inherited Retinal Disorders at a Tertiary Care CenterSemantic proximity Read ↗

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