Publications
Transcriptomic profiles of retinal ganglion cells are defined by the magnitude of intraocular pressure elevation in adult mice. Sci Rep. 2019 ;9(1):2594.
. Transcript isoforms of Reep6 have distinct functions in the retina. Hum Mol Genet. 2021 ;30(21):1907-1918.
. Spata7 is required for maintenance of the retinal connecting cilium. Sci Rep. 2022 ;12(1):5575.
. Sex-specific epigenetic development in the mouse hypothalamic arcuate nucleus pinpoints human genomic regions associated with body mass index. Sci Adv. 2022 ;8(39):eabo3991.
. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nat Commun. 2015 ;6:5614.
. Mapping the -regulatory architecture of the human retina reveals noncoding genetic variation in disease. Proc Natl Acad Sci U S A. 2020 ;117(16):9001-9012.
. Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†. Biol Reprod. 2020 ;102(6):1234-1247.
. Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice. Hum Gene Ther. 2019 ;30(3):302-315.
. Gene augmentation therapy to rescue degenerative photoreceptors in a Cwc27 mutant mouse model. Exp Eye Res. 2023 ;234:109596.
. Cwc27, associated with retinal degeneration, functions as a splicing factor in vivo. Hum Mol Genet. 2022 ;31(8):1278-1292.
. Critical Role of Cytosolic DNA and Its Sensing Adaptor STING in Aortic Degeneration, Dissection, and Rupture. Circulation. 2020 ;141(1):42-66.
. Comparing vertebrate whole-genome shotgun reads to the human genome. Genome Res. 2001 ;11(11):1807-16.
. A clone-array pooled shotgun strategy for sequencing large genomes. Genome Res. 2001 ;11(10):1619-23.
. A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. J Clin Invest. 2020 ;130(8):4118-4132.
. Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy. Genet Med. 2021 ;23(3):488-497.
. Ceramide compensation by ceramide synthases preserves retinal function and structure in a retinal dystrophy mouse model. Dis Model Mech. 2023 ;16(7).
. AAV8-Mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a Tlcd3b Knockout Mouse Model. Invest Ophthalmol Vis Sci. 2022 ;63(3):11.
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