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Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Biswas P, Duncan JL, Maranhao B, Kozak I, Branham K, Gabriel L, Lin JH, Barteselli G, Navani M, Suk J, Parke M, Schlechter C, Weleber RG, Heckenlively JR, Dagnelie G, Lee P, Riazuddin SA, Ayyagari R. Biswas P, et al. Among authors: duncan jl. Physiol Genomics. 2017 Apr 1;49(4):216-229. doi: 10.1152/physiolgenomics.00096.2016. Epub 2017 Jan 27. Physiol Genomics. 2017. PMID: 28130426 Free PMC article.
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A. Branham K, et al. Among authors: duncan jl. Invest Ophthalmol Vis Sci. 2012 Dec 13;53(13):8232-7. doi: 10.1167/iovs.12-11025. Invest Ophthalmol Vis Sci. 2012. PMID: 23150612 Free PMC article.
exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
Maranhao B, Biswas P, Duncan JL, Branham KE, Silva GA, Naeem MA, Khan SN, Riazuddin S, Hejtmancik JF, Heckenlively JR, Riazuddin SA, Lee PL, Ayyagari R. Maranhao B, et al. Among authors: duncan jl. Genomics. 2014 Feb-Mar;103(2-3):169-76. doi: 10.1016/j.ygeno.2014.02.006. Epub 2014 Mar 3. Genomics. 2014. PMID: 24603341 Free PMC article. Clinical Trial.
Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.
Duncan JL, Biswas P, Kozak I, Navani M, Syed R, Soudry S, Menghini M, Caruso RC, Jeffrey BG, Heckenlively JR, Reddy GB, Lee P, Roorda A, Ayyagari R. Duncan JL, et al. Ophthalmic Genet. 2016;37(1):44-52. doi: 10.3109/13816810.2014.929716. Epub 2014 Jul 9. Ophthalmic Genet. 2016. PMID: 25007332 Free PMC article.
An analysis of observer-rated functional vision in patients implanted with the Argus II Retinal Prosthesis System at three years.
Geruschat DR, Richards TP, Arditi A, da Cruz L, Dagnelie G, Dorn JD, Duncan JL, Ho AC, Olmos de Koo LC, Sahel JA, Stanga PE, Thumann G, Wang V, Greenberg RJ. Geruschat DR, et al. Among authors: duncan jl. Clin Exp Optom. 2016 May;99(3):227-32. doi: 10.1111/cxo.12359. Epub 2016 Jan 24. Clin Exp Optom. 2016. PMID: 26804484 Free PMC article. Clinical Trial.
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, Kimchi A, Sharon D, Iwata T, Riazuddin S, Reddy GB, Hejtmancik JF, Georgiou G, Riazuddin SA, Ayyagari R. Biswas P, et al. Among authors: duncan jl. Hum Mol Genet. 2016 Jun 15;25(12):2483-2497. doi: 10.1093/hmg/ddw113. Epub 2016 Apr 22. Hum Mol Genet. 2016. PMID: 27106100 Free PMC article.
357 results