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

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Genes - 23 Dec 2021

Moon Dabin, Park Hye Won, Surl Dongheon, Won Dongju, Lee Seung-Tae, Shin Saeam, Choi Jong Rak, Han Jinu

Abstract excerpt

In this study, we investigated medically or surgically actionable genes in inherited eye disease, based on clinical phenotype and genomic data. This retrospective consecutive case series included 149 patients with inherited eye diseases, seen by a single pediatric ophthalmologist, who underwent genetic testing between 1 March 2017 and 28 February 2018. Variants were detected using a target enrichment panel of 429...

Read the complete abstract on PubMed

Topics

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

Share to Eye Abnormalities
Share to Eye Diseases, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Pedigree

Share to Precision Medicine

Share to Republic of Korea

Source

Open in PubMed Open full text

Identifiers

PMID: 35052368
DOI: 10.3390/genes13010027
PMCID: PMC8774510

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.PMID 35052368Read ↗

[Human genetic diagnostics in hereditary eye diseases : What does the ophthalmologist need to know].Semantic proximity Read ↗

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.Semantic proximity Read ↗

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.Semantic proximity Read ↗

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.Semantic proximity Read ↗

Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disordersSemantic proximity Read ↗

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE networkSemantic proximity Read ↗

Whole-Exome Sequencing in 168 Korean Patients with Inherited Retinal DegenerationSemantic proximity Read ↗

Whole exome sequencing of known eye genes reveals genetic causes for high myopiaSemantic proximity Read ↗

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.Semantic proximity Read ↗

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

Advancing precision medicines for ocular disorders: Diagnostic genomics to tailored therapiesSemantic proximity Read ↗

Post-Genomic Era: Critical Role of Genetic Counseling in a Pediatric ClinicSemantic proximity Read ↗

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