E. Place

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.

Variant-level functional assays expand the phenotypic spectrum of IDUA-associated disease to include late-onset retinal-predominant or apparently isolated retinitis pigmentosa and indicate that residual enzyme activity likely contributes to systemic sparing, highlighting the value of integrated genomic, biochemical, an...

In vitro pathogenicity evaluation of deep intronic variants for recessive genetic retinal diseases

Structure-Based Network Analysis of AlphaFold Structure Predictions Identifies Putative Causative Variants of Inherited Retinal Disease

SBNA can identify variants in human proteins that are likely to cause disease, and it can help predict variants causative of IRDs in an unbiased fashion using both AlphaFold2-generated structural models and experimental structural data.