Peer Reviewed Manuscripts

  1. Gamlin PD, Alexander JJ, Boye SL, Witherspoon CD, Boye SE. SubILM Injection of AAV for Gene Delivery to the Retina. Methods Mol Biol. 2019;1950:249–262. doi:10.1007/978-1-4939-9139-6_14
  2. McCullough KT, Boye SL, Fajardo D, et al. Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque. Hum Gene Ther. 2019;30(5):571–589. doi:10.1089/hum.2018.193
  3. Calabro KR, Boye SL, Choudhury S, et al. A Novel Mouse Model of MYO7A USH1B Reveals Auditory and Visual System Haploinsufficiencies. Front Neurosci. 2019;13:1255. Published 2019 Nov 22. doi:10.3389/fnins.2019.01255
  4. Santiago CP, Keuthan CJ, Boye SL, Boye SE, Imam AA, Ash JD. A Drug-Tunable Gene Therapy for Broad-Spectrum Protection against Retinal DegenerationMol Ther. 2018;26(10):2407–2417. doi:10.1016/j.ymthe.2018.07.016
  5. Gamlin PD, Alexander JJ, Boye SL, Witherspoon CD, Boye SE. SubILM Injection of AAV for Gene Delivery to the RetinaMethods Mol Biol. 2019;1950:249–262. doi:10.1007/978-1-4939-9139-6_14
  6. Kanaan NM, Sellnow RC, Boye SL, et al. Rationally Engineered AAV Capsids Improve Transduction and Volumetric Spread in the CNSMol Ther Nucleic Acids. 2017;8:184–197. doi:10.1016/j.omtn.2017.06.011
  7. Beltran WA, Cideciyan AV, Boye SE, et al. Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR MutationsMol Ther. 2017;25(8):1866–1880. doi:10.1016/j.ymthe.2017.05.004
  8. Jacobson SG, Cideciyan AV, Sumaroka A, et al. Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D MutationsAm J Ophthalmol. 2017;177:44–57. doi:10.1016/j.ajo.2017.02.003
  9. Boye SE. Increased vulnerability of photoreceptors to aberrant splicing highlight the utility of AON-based therapy for CEP290-LCAStem Cell Investig. 2016;3:96. Published 2016 Dec 27. doi:10.21037/sci.2016.12.01
  10. Choudhury S, Strang CE, Alexander JJ, et al. Novel Methodology for Creating Macaque Retinas with Sortable Photoreceptors and Ganglion CellsFront Neurosci. 2016;10:551. Published 2016 Dec 1. doi:10.3389/fnins.2016.00551
  11. Xie K, Colgan LA, Dao MT, et al. NF1 Is a Direct G Protein Effector Essential for Opioid Signaling to Ras in the StriatumCurr Biol. 2016;26(22):2992–3003. doi:10.1016/j.cub.2016.09.010
  12. Boye SL, Olshevskaya EV, Peshenko IV, McCullough KT, Boye SE, Dizhoor AM. Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinasMol Vis. 2016;22:1342–1351. Published 2016 Nov 10.
  13. Boye SE, Alexander JJ, Witherspoon CD, et al. Highly Efficient Delivery of Adeno-Associated Viral Vectors to the Primate RetinaHum Gene Ther. 2016;27(8):580–597. doi:10.1089/hum.2016.085
  14. Boyd RF, Boye SL, Conlon TJ, et al. Reduced retinal transduction and enhanced transgene-directed immunogenicity with intravitreal delivery of rAAV following posterior vitrectomy in dogsGene Ther. 2016;23(6):548–556. doi:10.1038/gt.2016.31
  15. Boye SL, Bennett A, Scalabrino ML, et al. Impact of Heparan Sulfate Binding on Transduction of Retina by Recombinant Adeno-Associated Virus VectorsJ Virol. 2016;90(8):4215–4231. Published 2016 Mar 28. doi:10.1128/JVI.00200-16
  16. Ildefonso CJ, Jaime H, Brown EE, et al. Targeting the Nrf2 Signaling Pathway in the Retina With a Gene-Delivered Secretable and Cell-Penetrating PeptideInvest Ophthalmol Vis Sci. 2016;57(2):372–386. doi:10.1167/iovs.15-17703
  17. Ye GJ, Budzynski E, Sonnentag P, et al. Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases. Hum Gene Ther. 2016;27(1):72–82. doi:10.1089/hum.2015.130
  18. Boyd RF, Sledge DG, Boye SL, et al. Photoreceptor-targeted gene delivery using intravitreally administered AAV vectors in dogs [published correction appears in Gene Ther. 2016 Apr;23(4):400]. Gene Ther. 2016;23(2):223–230. doi:10.1038/gt.2015.96
  19. Boye SE. A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1). Adv Exp Med Biol. 2016;854:253–258. doi:10.1007/978-3-319-17121-0_34

Book Chapters

  1. Title: Retinal Disorders: Genetic Approaches to Diagnosis and Treatment Editors: Eric Pierce, Richard Masland, Joan Miller Publisher: Cold Spring Harbor Press Chapter Title: Leber congenital amaurosis due to mutations in GUCY2D Author: Shannon E. Boye 2013
  2.  Title: A Guide to Human Gene Therapy Editors: Herzog and Zolotukhin Publisher: World Scientific Chapter Title: Retinal Diseases Authors: Shannon E Boye, Sanford L Boye, William W. Hauswirth 2009
  3. Title: Mouse Visual System Editors: Chalupa and Williams Publisher: MIT Press Chapter Title: AAV Gene Therapy in Mouse Models of Retinal Degeneration Authors: SE Boye , SL Boye, WW Hauswirth 2008
  4. Title: Regenerative Medicine Editors: Robert C. Fisher and Edward W. Scott Publisher: Jones and Bartlett Chapter Title: Retina Authors: Hilda Petrs-Silva, Shannon Boye and William W. Hauswirth

Collections Edited

  1. Frontiers in Neuroscience “Ocular Gene Therapy: From Basic Research to Translational Studies” Editors: Shannon E. Boye, Stylianos Michalakis, Simon Petersen-Jones, Hildegard Büning. Collection in process 2015-2017


  1. Sanford L. Boye and Shannon E. Boye. “Genetic Therapies for Inherited Retinal Disease”. Invited submission to ‘Retinal Physician’ magazine (peer reviewed). Published 5-1-15