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Jennifer T Vu

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Open access Oct 2026

Advancing genetic pathogenicity prediction with three-dimensional proteoform-phenotype analysis

Ascertaining the pathogenicity and clinical relevance of genetic mutations is a longstanding challenge across human disease. This is particularly relevant for genes with many variants of unknown significance (VUS), such as PRPH2-retinopathy, where complex variable phenotype patterns and limited genotype correlations hi...

Y.-J. Sun, G. Velez, A.-S. Li et al. · 0 citations
Open access Aug 2026

Ability of Large Language Models to Answer Patients’ Questions and Generate Educational Materials for Uncommon Retinal Conditions

Purpose: To assess the ability of large language models to accurately and comprehensively respond to frequently asked questions and generate patient education materials related to uncommon retinal conditions. Methods: A total of 50 frequently asked questions related to 10 uncommon retinal conditions were input into 3 l...

Samuel A. Cohen, P. Tailor, Adrian C. Au et al. · 0 citations

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