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List of works by Robert F. Mullins

A Method for Sectioning and Immunohistochemical Analysis of Stem Cell-Derived 3-D Organoids

scientific article published on 12 May 2016

A mutation in the mouse ttc26 gene leads to impaired hedgehog signaling

scientific journal article

ASSESSMENT OF AAV SEROTYPE TROPISM IN HUMAN RETINAL EXPLANTS.

scientific article published on 21 November 2017

AUTOSOMAL RECESSIVE VITELLIFORM MACULAR DYSTROPHY IN A LARGE COHORT OF VITELLIFORM MACULAR DYSTROPHY PATIENTS

article

Adeno-associated virus type 5: transduction efficiency and cell-type specificity in the primate retina.

scientific article published on November 2003

Allogenic iPSC-derived RPE cell transplants induce immune response in pigs: a pilot study

scientific article published on 3 July 2015

Anti-γ-enolase autoimmune retinopathy manifesting in early childhood

scientific article

Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study

scientific article

Association of HLA class I and class II polymorphisms with age-related macular degeneration.

scientific article published in May 2005

Association of reduced Connexin 43 expression with retinal vascular lesions in human diabetic retinopathy.

scientific article

Autosomal Dominant Early Onset Aponeurotic Ptosis and Corneal Limbal Vascularization in a Three-generation Family

scientific article published on 01 November 2007

Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.

scientific article published on 18 April 2012

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

scientific article

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

scientific article

Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease

scientific article published in May 2007

Bestrophinopathy: An RPE-photoreceptor interface disease

scientific article published on 19 January 2017

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.

scientific article published on 8 May 2014

CLINICOPATHOLOGICAL CORRELATION IN A PATIENT WITH PREVIOUSLY TREATED BIRDSHOT CHORIORETINOPATHY.

scientific article published in September 2017

Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy

scientific article

Characterization of Choroidal Layers in Normal Aging Eyes Using Enface Swept-Source Optical Coherence Tomography

scientific article published on 14 July 2015

Characterization of drusen-associated glycoconjugates

scientific article published on 01 February 1997

Choriocapillaris vascular dropout related to density of drusen in human eyes with early age-related macular degeneration

scientific article

Choroidal γδ T cells in protection against retinal pigment epithelium and retinal injury.

scientific article published on 20 July 2017

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

scientific article published on 27 May 2017

Comparison of color to fluorescein angiographic images from patients with early-adult onset grouped drusen suggests drusen substructure.

scientific article

Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration

scientific article

Comparison of retinal and choriocapillaris thicknesses following sitting to supine transition in healthy individuals and patients with age-related macular degeneration

scientific article published in March 2015

Comparison of the femtosecond laser (IntraLase) versus manual microkeratome (Moria ALTK) in dissection of the donor in endothelial keratoplasty: initial study in eye bank eyes

scientific article

Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.

scientific article

Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells

scientific article

Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease

scientific article

Connective Tissue Growth Factor Promotes Efficient Generation of Human Induced Pluripotent Stem Cell-Derived Choroidal Endothelium

scientific article published on 5 May 2017

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

scientific article

Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9.

scientific article published on 5 April 2019

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.

scientific article

Different inner retinal pathways mediate rod-cone input in irradiance detection for the pupillary light reflex and regulation of behavioral state in mice

scientific article

Differential Macular and Peripheral Expression of Bestrophin in Human Eyes and Its Implication for Best Disease

article

Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd).

scientific article published in June 2008

Drusen on Demand? Authors Describe a Novel Culture System for Generating subRPE Deposits.

scientific article published on February 2017

Effect of internal limiting membrane abrasion on retinal tissues in macular holes

scientific article published on May 2015

Effects of Antioxidant Components of AREDS Vitamins and Zinc Ions on Endothelial Cell Activation: Implications for Macular Degeneration ⬇️

scientific article published on February 27, 2012

Elevated membrane attack complex in human choroid with high risk complement factor H genotypes

scientific article

Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2)

scientific article published on 19 March 2007

Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His

article

Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism

scientific article

Evaluation of variants in the selectin genes in age-related macular degeneration

scientific article

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

scientific article

Exon-level expression profiling of ocular tissues

scientific article published on 14 March 2013

Fcγ receptor upregulation is associated with immune complex inflammation in the mouse retina and early age-related macular degeneration.

scientific article published on 13 January 2014

Feeder-free differentiation of cells exhibiting characteristics of corneal endothelium from human induced pluripotent stem cells.

scientific article published on 23 April 2018

Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration

scientific article published on 14 November 2006

From compliment to insult: genetics of the complement system in physiology and disease in the human retina. ⬇️

scientific article published on 8 May 2017

Gene therapy using stem cells

scientific article

Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors.

scientific article

Generating iPSC-Derived Choroidal Endothelial Cells to Study Age-Related Macular Degeneration

scientific article published on December 2015

Generation of Xeno-Free, cGMP-Compliant Patient-Specific iPSCs from Skin Biopsy

scientific article published on 14 August 2017

Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse

scientific article

Generation, identification and functional characterization of the nob4 mutation of Grm6 in the mouse.

scientific article published on January 2007

Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly

scientific article published on March 2015

Human ocular drusen possess novel core domains with a distinct carbohydrate composition

scientific article published on 01 December 1999

Human photoreceptor outer segments shorten during light adaptation.

scientific article published on May 2013

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

scientific article

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

scientific article

Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform

scientific article

Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease)

scientific article published on 19 February 2014

Interleukin-17 retinotoxicity is prevented by gene transfer of a soluble interleukin-17 receptor acting as a cytokine blocker: implications for age-related macular degeneration.

scientific article

Is age-related macular degeneration a microvascular disease?

scientific article published on January 2014

Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation

scientific article published on November 2005

Lipofuscin in human glaucomatous optic nerves.

scientific article

Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration

scientific article published on 14 July 2009

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

scientific article published on 01 February 2000

Loss of CD34 expression in aging human choriocapillaris endothelial cells

scientific article published on 21 January 2014

Macrophages in neovascular age-related macular degeneration: friends or foes?

scientific article published on 04 July 2008

Mechanical properties of murine and porcine ocular tissues in compression

scientific article published on 05 March 2014

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

scientific journal article

Molecular response of chorioretinal endothelial cells to complement injury: implications for macular degeneration

scientific article published on 13 November 2015

Molecular responses of choroidal endothelial cells to elastin derived peptides through the elastin-binding protein (GLB1).

scientific article

Monomeric C-reactive protein and inflammation in age-related macular degeneration

scientific article published on 4 July 2016

Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies

scientific journal article

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

scientific article published on 04 August 2013

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

scientific article

Outer Segment Length in Different Best Disease Genotypes

article

Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

scientific article

Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa

scientific article published on 18 March 2017

Photoreceptor cells with profound structural deficits can support useful vision in mice

scientific article published on 25 March 2014

Predicting the pathogenicity of RPE65 mutations.

scientific article

Preparation and evaluation of human choroid extracellular matrix scaffolds for the study of cell replacement strategies.

scientific article published on 5 May 2017

Prevascularized silicon membranes for the enhancement of transport to implanted medical devices.

scientific article published on 28 August 2015

Prioritization of retinal disease genes: an integrative approach

scientific article

Regional assessment of energy-producing metabolic activity in the endothelium of donor corneas

scientific article published on May 2015

Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus.

scientific article published on December 2004

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

scientific article

Selection of Phototransduction Genes in Homo sapiens

scientific article published on 13 August 2013

Selective accumulation of the complement membrane attack complex in aging choriocapillaris

scientific article published on 11 September 2015

Seroreactivity against aqueous-soluble and detergent-soluble retinal proteins in posterior uveitis

scientific article published in April 2011

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

scientific article published on 11 November 2019

Stem cells as tools for studying the genetics of inherited retinal degenerations

scientific article published on 11 December 2014

Stem cells for investigation and treatment of inherited retinal disease

scientific article published on 18 March 2014

Structural and biochemical analyses of choroidal thickness in human donor eyes.

scientific article published on 06 March 2014

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

scientific article

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

scientific article published in June 2001

Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1.

scientific article published on 11 September 2013

TBK1 and flanking genes in human retina.

scientific article published on 20 February 2013

TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice

scientific article published on 5 January 2012

The membrane attack complex in aging human choriocapillaris: relationship to macular degeneration and choroidal thinning

scientific article

Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy

scientific article

Time-resolved autofluorescence imaging of human donor retina tissue from donors with significant extramacular drusen.

scientific article

Transcriptome changes in age-related macular degeneration.

scientific article

Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq

scientific article

Transgenic TBK1 mice have features of normal tension glaucoma

scientific article published on 26 December 2016

Two-photon polymerization for production of human iPSC-derived retinal cell grafts.

scientific article published on 25 March 2017

Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation

scientific article

Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration

scientific article published on 12 June 2017

Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to Treat CLN3-Associated Retinal Degeneration

scientific article published on 11 July 2016

Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial

scientific article

Validity of Automated Choroidal Segmentation in SS-OCT and SD-OCT

scientific article published on May 2015

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

scientific article published on January 2011

Visual impairment in the absence of dystroglycan

scientific article

Vitritis in pediatric genetic retinal disorders

scientific article

cGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindness

scientific article published on 29 July 2016

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