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Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.
Tucker BA, Scheetz TE, Mullins RF, DeLuca AP, Hoffmann JM, Johnston RM, Jacobson SG, Sheffield VC, Stone EM. Tucker BA, et al. Proc Natl Acad Sci U S A. 2011 Aug 23;108(34):E569-76. doi: 10.1073/pnas.1108918108. Epub 2011 Aug 8. Proc Natl Acad Sci U S A. 2011. PMID: 21825139 Free PMC article.
Human photoreceptor outer segments shorten during light adaptation.
Abràmoff MD, Mullins RF, Lee K, Hoffmann JM, Sonka M, Critser DB, Stasheff SF, Stone EM. Abràmoff MD, et al. Invest Ophthalmol Vis Sci. 2013 May 1;54(5):3721-8. doi: 10.1167/iovs.13-11812. Invest Ophthalmol Vis Sci. 2013. PMID: 23633665 Free PMC article.
Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration.
Burnight ER, Gupta M, Wiley LA, Anfinson KR, Tran A, Triboulet R, Hoffmann JM, Klaahsen DL, Andorf JL, Jiao C, Sohn EH, Adur MK, Ross JW, Mullins RF, Daley GQ, Schlaeger TM, Stone EM, Tucker BA. Burnight ER, et al. Mol Ther. 2017 Sep 6;25(9):1999-2013. doi: 10.1016/j.ymthe.2017.05.015. Epub 2017 Jun 12. Mol Ther. 2017. PMID: 28619647 Free PMC article.
Intrafamilial Variability of Ocular Manifestations of von Hippel-Lindau Disease.
Bowen RC, Boldt HC, Mullins RF, Field MG, Affatigato LM, Hoffmann JM, Folk JC, Gehrs KM, Han IC, Sohn EH, Russell SR, Stone EM, Tucker BA, Binkley EM. Bowen RC, et al. Ophthalmol Retina. 2022 Jan;6(1):89-91. doi: 10.1016/j.oret.2021.08.005. Epub 2021 Aug 18. Ophthalmol Retina. 2022. PMID: 34416425 Free PMC article.
Management of race, ethnicity, and language data in the pediatric emergency department.
Gutman CK, Hartford EA, Gifford S, Ford V, Bouvay K, Pickett ML, Tran TT, Molyneaux Slade ND, Piroutek MJ, Chung S, Roach B, Hincapie M, Hoffmann JA, Lin K, Kotler H, Pulcini C, Rose JA, Bergmann KR, Cheng T, St Pierre Hetz R, Yan X, Lou XY, Fernandez R, Aronson PL, Lion KC; Pediatric Emergency Medicine Collaborative Research Committee Febrile Infants and Health Disparities Study Group. Gutman CK, et al. Among authors: hoffmann ja. Acad Emerg Med. 2024 May 29. doi: 10.1111/acem.14947. Online ahead of print. Acad Emerg Med. 2024. PMID: 38808384 No abstract available.
2,544 results