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Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells.
Giani FC, Fiorini C, Wakabayashi A, Ludwig LS, Salem RM, Jobaliya CD, Regan SN, Ulirsch JC, Liang G, Steinberg-Shemer O, Guo MH, Esko T, Tong W, Brugnara C, Hirschhorn JN, Weiss MJ, Zon LI, Chou ST, French DL, Musunuru K, Sankaran VG. Giani FC, et al. Cell Stem Cell. 2016 Jan 7;18(1):73-78. doi: 10.1016/j.stem.2015.09.015. Epub 2015 Oct 22. Cell Stem Cell. 2016. PMID: 26607381 Free PMC article.
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.
Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB. Joshi M, et al. Among authors: giani fc. Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000786. doi: 10.1101/mcs.a000786. Cold Spring Harb Mol Case Stud. 2016. PMID: 27148589 Free PMC article.
Surprising Focus of Infection in Fever of Unknown Origin.
Hofheinz K, Giani FC, Staudacher JJ. Hofheinz K, et al. Among authors: giani fc. Dtsch Arztebl Int. 2020 Aug 3;117(31-32):541. doi: 10.3238/arztebl.2020.0541. Dtsch Arztebl Int. 2020. PMID: 33087242 Free PMC article. No abstract available.