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Year Number of Results
2014 2
2015 3
2016 7
2017 4
2018 6
2019 1
2020 1
2021 1
2024 0

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22 results

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Page 1
ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa.
Xu M, Eblimit A, Wang J, Li J, Wang F, Zhao L, Wang X, Xiao N, Li Y, Wong LJ, Lewis RA, Chen R. Xu M, et al. Among authors: eblimit a. Hum Mutat. 2016 Mar;37(3):246-9. doi: 10.1002/humu.22940. Epub 2016 Jan 6. Hum Mutat. 2016. PMID: 26662040 Free PMC article.
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, Zhao L, Li Y, Kimchi A, Sharon D, Sui R, Endo T, Koenekoop RK, Chen R. Xu M, et al. Among authors: eblimit a. Hum Mol Genet. 2016 Apr 15;25(8):1479-88. doi: 10.1093/hmg/ddw022. Epub 2016 Jan 28. Hum Mol Genet. 2016. PMID: 26908613 Free PMC article.
SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium.
Dharmat R, Eblimit A, Robichaux MA, Zhang Z, Nguyen TT, Jung SY, He F, Jain A, Li Y, Qin J, Overbeek P, Roepman R, Mardon G, Wensel TG, Chen R. Dharmat R, et al. Among authors: eblimit a. J Cell Biol. 2018 Aug 6;217(8):2851-2865. doi: 10.1083/jcb.201712117. Epub 2018 Jun 13. J Cell Biol. 2018. PMID: 29899041 Free PMC article.
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE; UKIRDC; Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R. Arno G, et al. Among authors: eblimit a. Am J Hum Genet. 2016 Dec 1;99(6):1305-1315. doi: 10.1016/j.ajhg.2016.10.008. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889058 Free PMC article.
POU6f1 Mediates Neuropeptide-Dependent Plasticity in the Adult Brain.
McClard CK, Kochukov MY, Herman I, Liu Z, Eblimit A, Moayedi Y, Ortiz-Guzman J, Colchado D, Pekarek B, Panneerselvam S, Mardon G, Arenkiel BR. McClard CK, et al. Among authors: eblimit a. J Neurosci. 2018 Feb 7;38(6):1443-1461. doi: 10.1523/JNEUROSCI.1641-17.2017. Epub 2018 Jan 5. J Neurosci. 2018. PMID: 29305536 Free PMC article.
A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer.
Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M. Bajaj L, et al. Among authors: eblimit a. J Clin Invest. 2020 Aug 3;130(8):4118-4132. doi: 10.1172/JCI130955. J Clin Invest. 2020. PMID: 32597833 Free PMC article.
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
Xu M, Gelowani V, Eblimit A, Wang F, Young MP, Sawyer BL, Zhao L, Jenkins G, Creel DJ, Wang K, Ge Z, Wang H, Li Y, Hartnett ME, Chen R. Xu M, et al. Among authors: eblimit a. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3889-95. doi: 10.1167/iovs.15-16778. Invest Ophthalmol Vis Sci. 2015. PMID: 26070061 Free PMC article.
22 results