K. Bujakowska

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

Bi-allelic variants in IDUA classically cause mucopolysaccharidosis type I (MPS I), a multisystem lysosomal storage disorder. This study describes 14 individuals from 12 families presenting with retinitis pigmentosa, later attributed to bi-allelic IDUA genotypes. Notably, seven individuals, despite comprehensive system...

EYS-associated retinal degeneration in South Korea: Genetic, Phenotype, and Natural History.

PURPOSE To delineate the clinical and genetic spectrum of EYS-associated retinal degeneration (EYS-RD) and to quantify longitudinal progression of retinal structure and visual function. DESIGN, SETTING, AND PARTICIPANTS Multicenter retrospective cohort study at eight tertiary referral centers in South Korea, enrollin...

Yield of Long-Read Genome Sequencing for Rare Disease Diagnosis in Short-Read Genome Negative Cases

Background A growing body of work has highlighted advantages of long-read genome sequencing (LR-GS) over short-read genome sequencing (SR-GS) with regards to the detection and interpretation of pathogenic variants. However, the incremental diagnostic yield of LR-GS over SR-GS for patients with suspected Mendelian condi...

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

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

RGP demonstrates that a research-based, patient-driven remote sequencing study can effectively bridge a diagnostic gap for rare disease families underserved in current clinical care and underscores the clinical utility of GS with frequent re-analysis.

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.