Shomi Bhattacharya
Affiliations: | University College London |
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Sign in to add trainee| Marcela Garita-Hernandez | grad student | 2008-2012 | University College London |
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| Waseem NH, Low S, Shah AZ, et al. (2020) Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma. Plos Genetics. 16: e1008721 |
| Biswas P, Chavali VR, Agnello G, et al. (2016) A missense mutation in the ASRGL1 gene is involved in causing autosomal recessive retinal degeneration. Human Molecular Genetics |
| Czub B, Shah AZ, Alfano G, et al. (2016) TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene. Plos One. 11: e0148678 |
| Rose AM, Bhattacharya SS. (2016) Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa. Clinical Genetics |
| Lukovic D, Artero Castro A, Delgado AB, et al. (2015) Human iPSC derived disease model of MERTK-associated retinitis pigmentosa. Scientific Reports. 5: 12910 |
| Czub B, Shah A, Kruczek P, et al. (2015) Prostaglandin-D2 synthase localises to centrioles and primary cilium, and interacts with TOPORS, implicated in retinal ciliopathy. Cilia. 4: 15 |
| Sergouniotis PI, Chakarova C, Murphy C, et al. (2014) Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. American Journal of Human Genetics. 94: 760-9 |
| Rose AM, Shah AZ, Venturini G, et al. (2014) Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis". Annals of Human Genetics. 78: 62-71 |
| Audo I, Bujakowska K, Orhan E, et al. (2014) The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Human Molecular Genetics. 23: 491-501 |
| Garita-Hernández M, Diaz-Corrales F, Lukovic D, et al. (2013) Hypoxia increases the yield of photoreceptors differentiating from mouse embryonic stem cells and improves the modeling of retinogenesis in vitro. Stem Cells (Dayton, Ohio). 31: 966-78 |