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

Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2020

Jackson Daniel, Malka Samantha, Harding Philippa, Palma Juliana, Dunbar Hannah, Moosajee Mariya

Abstract excerpt

Overall, approximately one-quarter of patients with genetic eye diseases will receive a molecular diagnosis. Patients with developmental eye disorders face a number of diagnostic challenges including phenotypic heterogeneity with significant asymmetry, coexisting ocular and systemic disease, limited understanding of human eye development and the associated genetic repertoire, and lack of access to next generation...

Read the complete abstract on PubMed

Topics

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

Share to Albinism
Share to Coloboma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Abnormalities

Share to Eye Diseases

Share to Glaucoma

Share to Nystagmus, Congenital

Share to Pathology, Molecular

Share to Pediatrics

Source

Open in PubMed Open full text

Identifiers

PMID: 32830442
DOI: 10.1002/ajmg.c.31837
PMCID: PMC8432170

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.PMID 32830442Read ↗

Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic StrategiesSemantic proximity Read ↗

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

Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panelsSemantic proximity Read ↗

Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular colobomaSemantic proximity Read ↗

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.Semantic proximity Read ↗

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

A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.Semantic proximity Read ↗

Mosaicism detection and impact in eye development anomaliesSemantic proximity Read ↗

Genomic Approaches to Diagnosis in Congenital and Developmental Cataract: Comparison of Panel Versus Whole Genome Sequencing, Diagnostic Yield, Variant Spectrum, Genotype-Phenotype Correlations, and Implications for Counseling.Semantic proximity Read ↗

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

PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.Semantic proximity Read ↗

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.Semantic proximity Read ↗

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