Robert F. Mullins

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

• 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

• Retinal neurodegeneration may precede microvascular changes characteristic of diabetic retinopathy in diabetes mellitus

  Proceedings of the National Academy of Sciences · 2016 · https://doi.org/10.1073/pnas.1522014113

• The Membrane Attack Complex in Aging Human Choriocapillaris

  American Journal Of Pathology · 2014 · 10.1016/j.ajpath.2014.07.017

• 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

• 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

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

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

• T-cell immunoglobulin and mucin domain 1 (TIM-1) is a receptor for Zaire Ebolavirus and Lake Victoria Marburgvirus

  Proceedings of the National Academy of Sciences · 2011 · 10.1073/pnas.1019030108

• Choriocapillaris Vascular Dropout Related to Density of Drusen in Human Eyes with Early Age-Related Macular Degeneration

  Investigative Ophthalmology & Visual Science · 2011 · 10.1167/iovs.10-6476

• 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

• 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 · 10.1073/pnas.0708571104

• Bardet–Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

  Human Molecular Genetics · 2006 · 10.1093/hmg/ddi468

• 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

• Decreased Thickness and Integrity of the Macular Elastic Layer of Bruch's Membrane Correspond to the Distribution of Lesions Associated with Age-Related Macular Degeneration

  American Journal Of Pathology · 2005 · https://doi.org/10.1016/s0002-9440(10)62248-1

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

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

• 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 · 10.1073/pnas.0402354101

• 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 · 10.1073/pnas.0405496101

• A role for local inflammation in the formation of drusen in the aging eye

  American Journal of Ophthalmology · 2002 · https://doi.org/10.1016/s0002-9394(02)01624-0

• Structure and composition of drusen associated with glomerulonephritis: Implications for the role of complement activation in drusen biogenesis

  Eye · 2001 · 10.1038/eye.2001.142

• Local cellular sources of apolipoprotein E in the human retina and retinal pigmented epithelium: implications for the process of drusen formation

  American Journal of Ophthalmology · 2001 · 10.1016/s0002-9394(00)00961-2

• Drusen associated with aging and age‐related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease

  The FASEB Journal · 2000 · https://doi.org/10.1096/fasebj.14.7.835

• Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration

  American Journal of Ophthalmology · 2000 · 10.1016/s0002-9394(99)00345-1

• Vitronectin is a constituent of ocular drusen and the vitronectin gene is expressed in human retinal pigmented epithelial cells

  The FASEB Journal · 1999 · https://doi.org/10.1096/fasebj.13.3.477

Current projects

No projects listed.