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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
Bowne SJ, Humphries MM, Sullivan LS, Kenna PF, Tam LC, Kiang AS, Campbell M, Weinstock GM, Koboldt DC, Ding L, Fulton RS, Sodergren EJ, Allman D, Millington-Ward S, Palfi A, McKee A, Blanton SH, Slifer S, Konidari I, Farrar GJ, Daiger SP, Humphries P. Bowne SJ, et al. Among authors: humphries p, humphries mm. Eur J Hum Genet. 2011 Oct;19(10):1074-81. doi: 10.1038/ejhg.2011.86. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654732 Free PMC article.
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.
Kennan A, Aherne A, Palfi A, Humphries M, McKee A, Stitt A, Simpson DA, Demtroder K, Orntoft T, Ayuso C, Kenna PF, Farrar GJ, Humphries P. Kennan A, et al. Among authors: humphries m, humphries p. Hum Mol Genet. 2002 Mar 1;11(5):547-57. doi: 10.1093/hmg/11.5.547. Hum Mol Genet. 2002. PMID: 11875049
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).
Tam LC, Kiang AS, Kennan A, Kenna PF, Chadderton N, Ader M, Palfi A, Aherne A, Ayuso C, Campbell M, Reynolds A, McKee A, Humphries MM, Farrar GJ, Humphries P. Tam LC, et al. Among authors: humphries p, humphries mm. Hum Mol Genet. 2008 Jul 15;17(14):2084-100. doi: 10.1093/hmg/ddn107. Epub 2008 Apr 1. Hum Mol Genet. 2008. PMID: 18385099
Toward an elucidation of the molecular genetics of inherited retinal degenerations.
Farrar GJ, Carrigan M, Dockery A, Millington-Ward S, Palfi A, Chadderton N, Humphries M, Kiang AS, Kenna PF, Humphries P. Farrar GJ, et al. Among authors: humphries m, humphries p. Hum Mol Genet. 2017 Aug 1;26(R1):R2-R11. doi: 10.1093/hmg/ddx185. Hum Mol Genet. 2017. PMID: 28510639 Free PMC article. Review.
Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).
Daiger SP, Bowne SJ, Sullivan LS, Blanton SH, Weinstock GM, Koboldt DC, Fulton RS, Larsen D, Humphries P, Humphries MM, Pierce EA, Chen R, Li Y. Daiger SP, et al. Among authors: humphries p, humphries mm. Adv Exp Med Biol. 2014;801:123-9. doi: 10.1007/978-1-4614-3209-8_16. Adv Exp Med Biol. 2014. PMID: 24664689 Free PMC article.
303 results