Radha Ayyagari
Affiliations: | Ophthalmology | UCSD Medical Center |
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| Malka S, Biswas P, Berry AM, et al. (2024) Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression. American Journal of Human Genetics |
| Borooah S, Chekuri A, Pachauri S, et al. (2023) A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5. Advances in Experimental Medicine and Biology. 1415: 335-340 |
| Kumari A, Ayala-Ramirez R, Zenteno JC, et al. (2022) Single cell RNA sequencing confirms retinal microglia activation associated with early onset retinal degeneration. Scientific Reports. 12: 15273 |
| Biswas P, Berry AM, Zawaydeh Q, et al. (2022) A Mouse Model with Ablated Asparaginase and Isoaspartyl Peptidase 1 () Develops Early Onset Retinal Degeneration (RD) Recapitulating the Human Phenotype. Genes. 13 |
| Biswas P, Villanueva AL, Soto-Hermida A, et al. (2021) Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. Plos Genetics. 17: e1009848 |
| Borooah S, Papastavrou V, Lando L, et al. (2020) Reticular pseudodrusen in late-onset retinal degeneration. Ophthalmology. Retina |
| Biswas P, Borooah S, Matsui H, et al. (2020) Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model. Human Mutation |
| Baxter SL, Keenan WT, Athanas AJ, et al. (2020) Investigation of associations between Piezo1 mechanoreceptor gain-of-function variants and glaucoma-related phenotypes in humans and mice. Scientific Reports. 10: 19013 |
| Nadeem R, Kabir F, Li J, et al. (2020) Mutations in and cause retinitis pigmentosa in Pakistani families. Human Genome Variation. 7: 14 |
| Rauf B, Irum B, Khan SY, et al. (2020) Novel mutations in identified in familial cases of primary congenital glaucoma. Molecular Vision. 26: 14-25 |