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

Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian Patients.

Clinical genetics - 1 Mar 2025

Ardehaie Reza Mousavi, Eslahi Atieh, Alerasool Masoome, Rad Elham Khani, Shoeibi Nasser, Sedaghat Mohammad Reza, Avan Amir, Pasdar Alireza, Mojarrad Majid

Abstract excerpt

Inherited retinal diseases (IRDs) may have significant diagnostic challenges due to their genetic complexity and diverse inheritance patterns. Advanced genotyping tools like exome sequencing (ES) offer promising opportunities for identifying causative variants and improving disease management. This retrospective study was aimed to present prevalent pathogenic and novel variants in patients diagnosed with IRDs...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Genetic Association Studies

Share to Membrane Proteins

Share to Retinal Diseases

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 39761966
DOI: 10.1111/cge.14662

Genes

AIPL1
BBS2
CEP290
TMEM67

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian Patients.PMID 39761966Read ↗

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

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

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

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

Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.Semantic proximity Read ↗

Genetic characteristics and epidemiology of inherited retinal degeneration in TaiwanSemantic proximity Read ↗

Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variantsSemantic proximity Read ↗

Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genesSemantic proximity Read ↗

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesisSemantic proximity Read ↗

The genetic landscape of inherited retinal dystrophies in Arabs.Semantic proximity Read ↗

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

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

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