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Page 1
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, Wang X, Zaneveld JE, Salvo JS, Siddiqui S, Mao L, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Wen C, Flagg K, Ferreyra H, Pei J, Khan A, Ren H, Wang K, Lopez I, Qamar R, Zenteno JC, Ayala-Ramirez R, Buentello-Volante B, Fu Q, Simpson DA, Li Y, Sui R, Silvestri G, Daiger SP, Koenekoop RK, Zhang K, Chen R. Wang F, et al. Among authors: simpson da. Hum Genet. 2014 Mar;133(3):331-45. doi: 10.1007/s00439-013-1381-5. Epub 2013 Oct 24. Hum Genet. 2014. PMID: 24154662 Free PMC article.
Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa.
Napier ML, Durga D, Wolsley CJ, Chamney S, Alexander S, Brennan R, Simpson DA, Silvestri G, Willoughby CE. Napier ML, et al. Among authors: simpson da. Ophthalmic Genet. 2015;36(3):239-43. doi: 10.3109/13816810.2014.958862. Ophthalmic Genet. 2015. PMID: 25265376
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE. Lechner J, et al. Among authors: simpson da. Hum Mol Genet. 2014 Oct 15;23(20):5527-35. doi: 10.1093/hmg/ddu253. Epub 2014 Jun 3. Hum Mol Genet. 2014. PMID: 24895405 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: simpson da. Hum Mol Genet. 2002 Mar 1;11(5):547-57. doi: 10.1093/hmg/11.5.547. Hum Mol Genet. 2002. PMID: 11875049
Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.
Sundaresan P, Simpson DA, Sambare C, Duffy S, Lechner J, Dastane A, Dervan EW, Vallabh N, Chelerkar V, Deshpande M, O'Brien C, McKnight AJ, Willoughby CE. Sundaresan P, et al. Among authors: simpson da. Genet Med. 2015 Apr;17(4):279-84. doi: 10.1038/gim.2014.121. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232845 Free article.
306 results