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Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Prasov L, Guan B, Ullah E, Archer SM, Ayres BM, Besirli CG, Wiinikka-Buesser L, Comer GM, Del Monte MA, Elner SG, Garnai SJ, Huryn LA, Johnson K, Kamat SS, Lieu P, Mian SI, Rygiel CA, Serpen JY, Pawar HS, Brooks BP, Moroi SE, Richards JE, Hufnagel RB. Prasov L, et al. Among authors: guan b. Sci Rep. 2020 Nov 17;10(1):19986. doi: 10.1038/s41598-020-76725-8. Sci Rep. 2020. PMID: 33203948 Free PMC article.
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hufnagel RB, Liang W, Duncan JL, Brewer CC, Audo I, Ayala AR, Branham K, Cheetham JK, Daiger SP, Durham TA, Guan B, Heon E, Hoyng CB, Iannaccone A, Kay CN, Michaelides M, Pennesi ME, Singh MS, Ullah E; Foundation Fighting Blindness Consortium Investigator Group. Hufnagel RB, et al. Among authors: guan b. Hum Mutat. 2022 May;43(5):613-624. doi: 10.1002/humu.24365. Epub 2022 Mar 21. Hum Mutat. 2022. PMID: 35266249 Free PMC article.
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration.
Miyagishima KJ, Sharma R, Nimmagadda M, Clore-Gronenborn K, Qureshy Z, Ortolan D, Bose D, Farnoodian M, Zhang C, Fausey A, Sergeev YV, Abu-Asab M, Jun B, Do KV, Kautzman Guerin MA, Calandria J, George A, Guan B, Wan Q, Sharp RC, Cukras C, Sieving PA, Hufnagel RB, Bazan NG, Boesze-Battaglia K, Miller S, Bharti K. Miyagishima KJ, et al. Among authors: guan b. Commun Biol. 2021 Dec 9;4(1):1360. doi: 10.1038/s42003-021-02872-x. Commun Biol. 2021. PMID: 34887495 Free PMC article.
Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.
Aguilera N, Liu T, Bower AJ, Li J, Abouassali S, Lu R, Giannini J, Pfau M, Bender C, Smelkinson MG, Naik A, Guan B, Schwartz O, Volkov A, Dubra A, Liu Z, Hammer DX, Maric D, Fariss R, Hufnagel RB, Jeffrey BG, Brooks BP, Zein WM, Huryn LA, Tam J. Aguilera N, et al. Among authors: guan b. Commun Biol. 2022 Sep 13;5(1):893. doi: 10.1038/s42003-022-03842-7. Commun Biol. 2022. PMID: 36100689 Free PMC article.
1,202 results