Article

Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panels

2025-08-28

Abstract excerpt

<h4>Importance</h4> Anophthalmia and microphthalmia (A/M) are rare congenital eye disorders with a low molecular diagnosis rate, which limits clinical management and genetic counselling. Improved detection and interpretation of pathogenic variants is essential for advancing diagnosis and care in affected individuals. <h4>Objective</h4> To improve the molecular diagnostic yield in A/M patients by refining the met...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 04c68f67-c94c-5045-a81d-b61e0509f852
DOI: 10.1101/2025.08.26.25334245

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Refining the genetic landscape of anophthalmia and microphthalmia: a comprehensive framework with deep learning and updated gene panelsDOI 10.1101/2025.08.26.25334245Read

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.Semantic proximity Read

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

Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.Semantic proximity Read

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

Exploring the molecular basis of microphthalmia and anophthalmia: Insights from an Egyptian cohort.Semantic proximity Read

The genetic and clinical landscape of nanophthalmos in an Australian cohortSemantic proximity Read

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

Genetic investigation of 93 families with microphthalmia or posterior microphthalmosSemantic proximity Read

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.Semantic proximity Read

The Molecular Basis of Human Anophthalmia and MicrophthalmiaSemantic proximity Read

Diagnostic Discovery Of Structural Variants causing Foveal Hypoplasia Using SVRare and Long Read Nanopore SequencingSemantic proximity Read

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