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- COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage Journal Articles
- DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration Journal Articles
- Electron Microscopy of Skin and Peripheral Blood Lymphocytes in Infantile (Santavuori) Neuronal Ceroid Lipofuscinosis Journal Articles
- Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization Journal Articles
- Risk of Normal Tension Glaucoma Progression From Automated Baseline Retinal-Vessel Caliber Analysis: A Prospective Cohort Study Journal Articles
- Variation of Phenotype in Charcot-Marie-Tooth Disease Journal Articles