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Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
Schwarz N, Lane A, Jovanovic K, Parfitt DA, Aguila M, Thompson CL, da Cruz L, Coffey PJ, Chapple JP, Hardcastle AJ, Cheetham ME. Schwarz N, et al. Among authors: parfitt da. Hum Mol Genet. 2017 Jul 1;26(13):2480-2492. doi: 10.1093/hmg/ddx143. Hum Mol Genet. 2017. PMID: 28444310 Free PMC article.
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ. Webb TR, et al. Among authors: parfitt da. Hum Mol Genet. 2012 Aug 15;21(16):3647-54. doi: 10.1093/hmg/dds194. Epub 2012 May 22. Hum Mol Genet. 2012. PMID: 22619378 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: parfitt da. 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.
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
Schwarz N, Lane A, Jovanovic K, Parfitt DA, Aguila M, Thompson CL, da Cruz L, Coffey PJ, Chapple JP, Hardcastle AJ, Cheetham ME. Schwarz N, et al. Among authors: parfitt da. Hum Mol Genet. 2017 Sep 1;26(17):3451. doi: 10.1093/hmg/ddx245. Hum Mol Genet. 2017. PMID: 28854704 Free PMC article. No abstract available.
AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity.
Aguilà M, Bellingham J, Athanasiou D, Bevilacqua D, Duran Y, Maswood R, Parfitt DA, Iwawaki T, Spyrou G, Smith AJ, Ali RR, Cheetham ME. Aguilà M, et al. Among authors: parfitt da. Hum Mol Genet. 2020 May 28;29(8):1310-1318. doi: 10.1093/hmg/ddaa049. Hum Mol Genet. 2020. PMID: 32196553 Free PMC article.
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.
Parfitt DA, Lane A, Ramsden CM, Carr AF, Munro PM, Jovanovic K, Schwarz N, Kanuga N, Muthiah MN, Hull S, Gallo JM, da Cruz L, Moore AT, Hardcastle AJ, Coffey PJ, Cheetham ME. Parfitt DA, et al. Among authors: da cruz l. Cell Stem Cell. 2016 Jun 2;18(6):769-781. doi: 10.1016/j.stem.2016.03.021. Epub 2016 Apr 14. Cell Stem Cell. 2016. PMID: 27151457 Free PMC article.
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