Revealing hidden genetic diagnoses in the ocular anterior segment disorders.

doi:10.1038/s41436-020-0854-x

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

Community

Back to search

Article

Revealing hidden genetic diagnoses in the ocular anterior segment disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2020

Ma Alan, Yousoof Saira, Grigg John R, Flaherty Maree, Minoche Andre E, Cowley Mark J, Nash Benjamin M, Ho Gladys, Gayagay Thet, Lai Tiffany, Farnsworth Elizabeth, Hackett Emma L, Fisk Katrina, Wong Karen, Holman Katherine J, Jenkins Gemma, Cheng Anson, Martin Frank, Karaconji Tanya, Elder James E, Enriquez Annabelle, Wilson Meredith, Amor David J, Stutterd Chloe A, Kamien Benjamin, Nelson John, Dinger Marcel E, Bennetts Bruce, Jamieson Robyn V

Abstract excerpt

PURPOSE: Ocular anterior segment disorders (ASDs) are clinically and genetically heterogeneous, and genetic diagnosis often remains elusive. In this study, we demonstrate the value of a combined analysis protocol using phenotypic, genomic, and pedigree structure data to achieve a genetic conclusion. METHODS: We utilized a combination of chromosome microarray, exome sequencing, and genome sequencing with...

Read the complete abstract on PubMed

Topics

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

Share to Eye Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ADAMTS Proteins

Share to Anterior Eye Segment

Share to Cytochrome P-450 CYP1B1

Share to Eye Diseases, Hereditary

Share to Forkhead Transcription Factors

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 32499604
DOI: 10.1038/s41436-020-0854-x
PMCID: PMC7521990

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Revealing hidden genetic diagnoses in the ocular anterior segment disorders.PMID 32499604Read ↗

A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.Semantic proximity Read ↗

Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Semantic proximity Read ↗

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.Semantic proximity Read ↗

Axenfeld-Rieger syndrome: more than meets the eye.Semantic proximity Read ↗

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

Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucomaSemantic proximity Read ↗

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

Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.Semantic proximity Read ↗

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

Genetic Variants Associated with Anterior Segment Dysgenesis in South FloridaSemantic proximity Read ↗

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

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