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High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.
Kalaskar VK, Alur RP, Li LK, Thomas JW, Sergeev YV, Blain D, Hufnagel RB, Cogliati T, Brooks BP. Kalaskar VK, et al. Hum Mutat. 2020 Mar;41(3):678-695. doi: 10.1002/humu.23954. Epub 2019 Dec 9. Hum Mutat. 2020. PMID: 31816153 Free PMC article.
Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure.
Boobalan E, Thompson AH, Alur RP, McGaughey DM, Dong L, Shih G, Vieta-Ferrer ER, Onojafe IF, Kalaskar VK, Arno G, Lotery AJ, Guan B, Bender C, Memon O, Brinster L, Soleilhavoup C, Panman L, Badea TC, Minella A, Lopez AJ, Thomasy SM, Moshiri A, Blain D, Hufnagel RB, Cogliati T, Bharti K, Brooks BP. Boobalan E, et al. Among authors: kalaskar vk. Invest Ophthalmol Vis Sci. 2022 Nov 1;63(12):5. doi: 10.1167/iovs.63.12.5. Invest Ophthalmol Vis Sci. 2022. PMID: 36326727 Free PMC article.