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

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.

The Journal of molecular diagnostics : JMD - 1 Mar 2026

Barberán-Martínez Pilar, Balanzá Mar, García-Bohórquez Belén, Escobar-Parra Sofia, García-Gil Romana, Feliciano-Sánchez Anselmo, Jaijo Teresa, Aller Elena, García-García Gema, Millán José M

Abstract excerpt

Inherited retinal dystrophies (IRDs) represent a diverse group of rare pathologies affecting vision, with significant genetic and clinical variability. Clinical exome sequencing was performed on 143 families clinically diagnosed with IRDs. The obtained variants were filtered and classified according to the American College of Medical Genetics and Genomics guidelines. Overall, a genetic diagnosis was achieved for...

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

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

Share to Exome Sequencing

Share to Extracellular Matrix Proteins

Share to Genetic Testing

Share to Mutation

Share to Pedigree

Share to Retinal Dystrophies

Source

Identifiers

PMID: 41500401
DOI: 10.1016/j.jmoldx.2025.11.008

Genes

ABCA4
FAM161A
GUCY2D
USH2A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 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

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.PMID 41500401Read ↗

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.Semantic proximity Read ↗

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

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

Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.Semantic proximity Read ↗

Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.Semantic proximity Read ↗

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.Semantic proximity Read ↗

Whole Exome Sequencing Unveils Novel Pathogenic Variants in an Iranian Cohort with Retinal Dystrophies: Implications for Genetic Diagnosis and CounselingSemantic proximity Read ↗

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.Semantic proximity Read ↗

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

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

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

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.Semantic proximity Read ↗

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