Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration
Article in Genetics in Medicine (February 2024)
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Identification of risk genes and biological pathways influencing myopia via transcriptome association study and biomedical ontology methods
Conference proceeding (December 2023)
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome
Article in European Journal of Human Genetics (October 2023)