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

Phenotyping of <i>ABCA4</i> Retinopathy by Machine Learning Analysis of Full-Field Electroretinography

30 Sept 2022

Abstract excerpt

Purpose: Biallelic pathogenic variants in ABCA4 are the commonest cause of monogenic retinal disease. The full-field electroretinogram (ERG) quantifies severity of retinal dysfunction. We explored application of machine learning in ERG interpretation and in genotype-phenotype correlations. Methods: International standard ERGs in 597 cases of ABCA4 retinopathy were classified into three functional phenotypes by...

Read the complete abstract on PubMed

Topics

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

Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments
Share to Retinopathy of Prematurity Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36178783
DOI: 10.1167/tvst.11.9.34

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotyping of <i>ABCA4</i> Retinopathy by Machine Learning Analysis of Full-Field ElectroretinographyPMID 36178783Read ↗

Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.Semantic proximity Read ↗

Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlatesSemantic proximity Read ↗

Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.Semantic proximity Read ↗

Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning TechniquesSemantic proximity Read ↗

Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.Semantic proximity Read ↗

Review and Meta-Analysis of BEST1 Retinopathy: Global Prevalence and Mutational LandscapeSemantic proximity Read ↗

Electronegative electroretinography in inherited retinal disease: a systematic review of genotype-phenotype correlations.Semantic proximity Read ↗

Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype AssociationsSemantic proximity Read ↗

A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.Semantic proximity Read ↗

Machine Learning-based Analysis of Electroretinography for Retinal Disease DetectionSemantic proximity Read ↗

Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.Semantic proximity Read ↗

Autoencoder-based phenotyping of ophthalmic images highlights genetic loci influencing retinal morphology and provides informative biomarkersSemantic proximity Read ↗

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