PURPOSE Accurate genotyping of individuals with inherited retinal diseases (IRD) is
essential for patient management and identifying suitable candidates for gene therapies …

Genetic eye diseases affect around one in 1000 people worldwide for which the molecular
aetiology remains unknown in the majority. The identification of disease-causing gene …

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 …

Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …

Purpose Rare disease diagnosis is challenging in medical image-based artificial
intelligence due to a natural class imbalance in datasets, leading to biased prediction …

Clinical exome sequencing (ES) has facilitated genetic diagnosis in individuals with a rare
genetic disorder by analysis of all protein-coding sequences in a single experiment …

Despite advances in sequencing technologies, a molecular diagnosis remains elusive in
many patients with Mendelian disease. Current short-read clinical sequencing approaches …

Successful sequencing of the human genome and evolving functional knowledge of gene
products has taken genomic medicine to the forefront, soon combining broadly with …

Background To assess the prevalence of genetic testing for inherited retinal diseases (IRDs)
in a tertiary practice setting. Methods Single-centre retrospective analysis of patients with …

Syndromic retinal diseases (SRDs) are a group of complex inherited systemic disorders,
with challenging molecular underpinnings and clinical management. Our main goal is to …