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 Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.

Genes - 16 Jul 2024

Abu Elasal Maria, Mousa Samira, Salameh Manar, Blumenfeld Anat, Khateb Samer, Banin Eyal, Sharon Dror

Abstract excerpt

Inherited retinal diseases (IRDs) are extremely heterogeneous with at least 350 causative genes, complicating the process of genetic diagnosis. We analyzed samples of 252 index cases with IRDs using the Blueprint Genetics panel for "Retinal Dystrophy" that includes 351 genes. The cause of disease could be identified in 55% of cases. A clear difference was obtained between newly recruited cases (74% solved) and...

Read the complete abstract on PubMed

Topics

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

Share to ATP-Binding Cassette Transporters
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Eye Proteins

Share to Genetic Testing

Share to Pedigree

Share to Retinal Diseases

Share to Retinal Dystrophies

Source

Open in PubMed Open full text

Identifiers

PMID: 39062705
DOI: 10.3390/genes15070926
PMCID: PMC11276581

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.PMID 39062705Read ↗

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

Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.Semantic proximity Read ↗

Identification and analysis of inherited retinal disease genes.Semantic proximity Read ↗

Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing.Semantic proximity Read ↗

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

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

Panel-based genetic testing for inherited retinal disease screening 176 genes.Semantic proximity Read ↗

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.Semantic proximity Read ↗

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

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

Beyond the phenotype: Exploring inherited retinal diseases with targeted next-generation sequencing in a Turkish cohort.Semantic proximity Read ↗

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

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