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Age-related macular degeneration: genetics and biology coming together.
Fritsche LG, Fariss RN, Stambolian D, Abecasis GR, Curcio CA, Swaroop A. Fritsche LG, et al. Among authors: fariss rn. Annu Rev Genomics Hum Genet. 2014;15:151-71. doi: 10.1146/annurev-genom-090413-025610. Epub 2014 Apr 16. Annu Rev Genomics Hum Genet. 2014. PMID: 24773320 Free PMC article. Review.
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A. Ratnapriya R, et al. Among authors: fariss rn. Hum Mol Genet. 2014 Nov 1;23(21):5827-37. doi: 10.1093/hmg/ddu276. Epub 2014 Jun 4. Hum Mol Genet. 2014. PMID: 24899048 Free PMC article.
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
Veleri S, Nellissery J, Mishra B, Manjunath SH, Brooks MJ, Dong L, Nagashima K, Qian H, Gao C, Sergeev YV, Huang XF, Qu J, Lu F, Cideciyan AV, Li T, Jin ZB, Fariss RN, Ratnapriya R, Jacobson SG, Swaroop A. Veleri S, et al. Among authors: fariss rn. Hum Mol Genet. 2017 Jun 15;26(12):2218-2230. doi: 10.1093/hmg/ddx111. Hum Mol Genet. 2017. PMID: 28369466 Free PMC article.
Loss of endocytosis-associated RabGEF1 causes aberrant morphogenesis and altered autophagy in photoreceptors leading to retinal degeneration.
Hargrove-Grimes P, Mondal AK, Gumerson J, Nellissery J, Aponte AM, Gieser L, Qian H, Fariss RN, Bonifacino JS, Li T, Swaroop A. Hargrove-Grimes P, et al. Among authors: fariss rn. PLoS Genet. 2020 Dec 23;16(12):e1009259. doi: 10.1371/journal.pgen.1009259. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33362196 Free PMC article.
An optimized protocol for retina single-cell RNA sequencing.
Fadl BR, Brodie SA, Malasky M, Boland JF, Kelly MC, Kelley MW, Boger E, Fariss R, Swaroop A, Campello L. Fadl BR, et al. Mol Vis. 2020 Oct 10;26:705-717. eCollection 2020. Mol Vis. 2020. PMID: 33088174 Free PMC article.
131 results