Publications
Ceramide compensation by ceramide synthases preserves retinal function and structure in a retinal dystrophy mouse model. Dis Model Mech. 2023 ;16(7).
. Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases. Genes (Basel). 2023 ;14(2).
. The Role of Ceramide in Inherited Retinal Disease Pathology. Adv Exp Med Biol. 2023 ;1415:303-307.
. Systematic assessment of the contribution of structural variants to inherited retinal diseases. Hum Mol Genet. 2023 ;32(12):2005-2015.
. AAV8-Mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a Tlcd3b Knockout Mouse Model. Invest Ophthalmol Vis Sci. 2022 ;63(3):11.
. Retinal organoids derived from rhesus macaque iPSCs undergo accelerated differentiation compared to human stem cells. Cell Prolif. 2022 ;55(4):e13198.
. Spata7 is required for maintenance of the retinal connecting cilium. Sci Rep. 2022 ;12(1):5575.
. Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy. Genet Med. 2021 ;23(3):488-497.
. Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases. Front Genet. 2021 ;12:647400.
. Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021 ;27:95-106.
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