Edwin M. Stone

Research interests

Publications

• Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration

  Proceedings of the National Academy of Sciences · 2019 · https://doi.org/10.1073/pnas.1914143116

• Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

  The Lancet · 2017 · https://doi.org/10.1016/s0140-6736(17)31868-8

• Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

  Ophthalmology · 2017 · https://doi.org/10.1016/j.ophtha.2017.04.008

• Structural and molecular changes in the aging choroid: implications for age-related macular degeneration

  Eye · 2016 · https://doi.org/10.1038/eye.2016.216

• Complement activation and choriocapillaris loss in early AMD: Implications for pathophysiology and therapy

  Progress in Retinal and Eye Research · 2014 · https://doi.org/10.1016/j.preteyeres.2014.11.005

• The Membrane Attack Complex in Aging Human Choriocapillaris

  American Journal Of Pathology · 2014 · https://doi.org/10.1016/j.ajpath.2014.07.017

• An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

  Genome biology · 2014 · https://doi.org/10.1186/gb-2014-15-3-r53

• Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

  eLife · 2013 · https://doi.org/10.7554/elife.00824

• Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

  Human Molecular Genetics · 2013 · https://doi.org/10.1093/hmg/ddt367

• Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

  Human Molecular Genetics · 2011 · https://doi.org/10.1093/hmg/ddr123

• 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

  Proceedings of the National Academy of Sciences · 2011 · https://doi.org/10.1073/pnas.1108918108

• Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

  The Lancet · 2009 · https://doi.org/10.1016/s0140-6736(09)61836-5

• Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

  Proceedings of the National Academy of Sciences · 2008 · https://doi.org/10.1073/pnas.0807027105

• Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

  New England Journal of Medicine · 2008 · https://doi.org/10.1056/nejmoa0802315

• A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

  Proceedings of the National Academy of Sciences · 2007 · https://doi.org/10.1073/pnas.0708571104

• Identical mutation in a novel retinal gene causes progressive rod–cone degeneration in dogs and retinitis pigmentosa in humans

  Genomics · 2006 · https://doi.org/10.1016/j.ygeno.2006.07.007

• Mkks-null mice have a phenotype resembling Bardet–Biedl syndrome

  Human Molecular Genetics · 2005 · https://doi.org/10.1093/hmg/ddi123

• Bbs2 -null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

  Proceedings of the National Academy of Sciences · 2004 · https://doi.org/10.1073/pnas.0405496101

• Bardet–Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

  Proceedings of the National Academy of Sciences · 2004 · https://doi.org/10.1073/pnas.0402354101

• Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis

  Science · 1998 · https://doi.org/10.1126/science.280.5366.1086

• Identification of a Gene That Causes Primary Open Angle Glaucoma

  Science · 1997 · https://doi.org/10.1126/science.275.5300.668

Current projects

No projects listed.