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robert Mullins

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Alex H Wagner; Thomas L Casavant; Adam P Deluca; robert Mullins; Todd E Scheetz; Edwin M Stone; Kyle R Taylor; Terry A Braun
Prioritization of retinal disease genes: an integrative approach.
Budd A Tucker; Kristin R Anfinson; robert Mullins; Edwin M Stone; Michael J Young
Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation.
Li Zhang; Kyungmoo Lee; robert Mullins; Meindert Niemeijer; Milan Sonka; Michael D Abràmoff
Automated segmentation of the choroid from clinical SD-OCT.

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2013: Alex H Wagner; Thomas L Casavant; Adam P Deluca; robert Mullins; Todd E Scheetz; Edwin M Stone; Kyle R Taylor; Terry A Braun
Prioritization of retinal disease genes: an integrative approach.
Human mutation 2013;34(6):853-9.
2013: Budd A Tucker; Kristin R Anfinson; robert Mullins; Edwin M Stone; Michael J Young
Use of a synthetic xeno-free culture substrate for induced pluripotent stem cell induction and retinal differentiation.
Stem cells translational medicine 2013;2(1):16-24.
2012: Li Zhang; Kyungmoo Lee; robert Mullins; Meindert Niemeijer; Milan Sonka; Michael D Abràmoff
Automated segmentation of the choroid from clinical SD-OCT.
Investigative ophthalmology & visual science 2012;53(12):7510-9.
2012: robert Mullins; Roxana A Radu; Emily I Schindler; Jade S East; G Stephanie Enriquez; Markus Kuehn; Gabriel H Travis; Edwin M Stone
Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.
Investigative ophthalmology & visual science 2012;53(4):1883-94.
2012: Jessica M Skeie; Jasmine Hernandez; Aleksander Hinek; robert Mullins
Molecular responses of choroidal endothelial cells to elastin derived peptides through the elastin-binding protein (GLB1).
Matrix biology : journal of the International Society for Matrix Biology 2012;31(2):113-9.
2012: Christine N Kay; Tyson R Kinnick; Kyuongmoo Lee; robert Mullins; Elliott H Sohn; Michael D Abramoff; Mina M Chung; Mari E Eyestone; Edwin M Stone
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy.
Archives of ophthalmology 2012;130(3):357-64.
2012: Shemin Zeng; Jasmine Hernández; robert Mullins
Effects of antioxidant components of AREDS vitamins and zinc ions on endothelial cell activation: implications for macular degeneration.
Investigative ophthalmology & visual science 2012;53(2):1041-7.
2012: Mao Mao; robert Mullins; Thomas A Oetting; Ben R Roos; Frances Solivan-Timpe; Edwin M Stone; Wallace L M Alward; Michael G Anderson; Peter M Brzeskiewicz; Young H Kwon; John H Fingert
Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma.
Molecular vision 2012;18():705-13.
2011: robert Mullins; Aaron D Dewald; Markus Kuehn; Luan M Streb; Kai Wang; Edwin M Stone
Elevated membrane attack complex in human choroid with high risk complement factor H genotypes.
Experimental eye research 2011;93(4):565-7.
2011: Budd A Tucker; Adam P DeLuca; Jeremy M Hoffmann; Samuel G Jacobson; Rebecca M Johnston; robert Mullins; Todd E Scheetz; Val C Sheffield; Edwin M Stone
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 of the United States of America 2011;108(34):E569-76.
2011: Andrew S Kondratowicz; Nicholas J Lennemann; Patrick L Sinn; Robert A Davey; Catherine Leta Hunt; Sven Moller-Tank; David K Meyerholz; Paul Rennert; robert Mullins; Melinda Brindley; Lindsay M Sandersfeld; Kathrina Quinn; Melodie Weller; Paul B McCray; John A Chiorini; Wendy Maury
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 of the United States of America 2011;108(20):8426-31.
2011: Audrey C Ko; Jason P Brinton; Vinit B Mahajan; Bridget Zimmerman; Gregory S Brinton; Edwin M Stone; James C Folk; robert Mullins
Seroreactivity against aqueous-soluble and detergent-soluble retinal proteins in posterior uveitis.
Archives of ophthalmology 2011;129(4):415-20.
2011: robert Mullins; Micaela N Johnson; Elizabeth A Faidley; Jessica M Skeie; Jian Huang
Choriocapillaris vascular dropout related to density of drusen in human eyes with early age-related macular degeneration.
Investigative ophthalmology & visual science 2011;52(3):1606-12.
2011: Tyson R Kinnick; robert Mullins; Sundeep Dev; Monique Leys; David A Mackey; Christine N Kay; Byron Lam; Gerald A Fishman; Elias Traboulsi; Raymond Iezzi Jr.; Edwin M Stone
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.
Retina (Philadelphia, Pa.) 2011;31(3):581-95.
2011: robert Mullins; Jessica M Skeie; James C Folk; Frances M Solivan-Timpe; Thomas A Oetting; Jian Huang; Kai Wang; Edwin M Stone; John H Fingert
Evaluation of variants in the selectin genes in age-related macular degeneration.
BMC medical genetics 2011;12():58.
2011: Jessica M Skeie; Shemin Zeng; Elizabeth A Faidley; robert Mullins
Angiogenin in age-related macular degeneration.
Molecular vision 2011;17():576-82.
2011: Edwin M Stone; Artur Vahe Cideciyan; Tomas S Aleman; Todd E Scheetz; Alexander Sumaroka; Mary A Ehlinger; Sharon B Schwartz; Gerald A Fishman; Elias I Traboulsi; Byron Lam; Anne B Fulton; robert Mullins; Val C Sheffield; Samuel G Jacobson
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
Archives of ophthalmology 2011;129(1):81-7.
2010: Audrey C Ko; Jasmine Hernández; Jason P Brinton; Elizabeth A Faidley; Sarah A Mugge; Marilyn B Mets; Randy Kardon; James C Folk; robert Mullins; Edwin M Stone
Anti-γ-enolase autoimmune retinopathy manifesting in early childhood.
Archives of ophthalmology 2010;128(12):1590-5.
2010: Jessica M Skeie; John H Fingert; Stephen R Russell; Edwin M Stone; robert Mullins
Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells.
Investigative ophthalmology & visual science 2010;51(10):5336-42.
2009: robert Mullins; Elizabeth A Faidley; Heather T Daggett; Catherine Jomary; Andrew J Lotery; Edwin M Stone
Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration.
Experimental eye research 2009;89(5):767-73.
2009: Jakob S Satz; Alisdair R Philp; Huy Nguyen; Hajime Kusano; Jane Lee; Rolf Turk; Megan J Riker; Jasmine Hernández; Robert M Weiss; Michael G Anderson; robert Mullins; Steven A Moore; Edwin M Stone; Kevin P Campbell
Visual impairment in the absence of dystroglycan.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009;29(42):13136-46.
2009: Alisdair R Philp; M Jin; S Li; E I Schindler; A Iannaccone; Byron Lam; Richard G Weleber; Gerald A Fishman; Samuel G Jacobson; robert Mullins; Gabriel H Travis; Edwin M Stone
Predicting the pathogenicity of RPE65 mutations.
Human mutation 2009;30(8):1183-8.
2009: J M Skeie; robert Mullins
Macrophages in neovascular age-related macular degeneration: friends or foes?
Eye (London, England) 2009;23(4):747-55.
2008: Jessica M Skeie; robert Mullins
Elastin-mediated choroidal endothelial cell migration: possible role in age-related macular degeneration.
Investigative ophthalmology & visual science 2008;49(12):5574-80.
2008: Stewart Thompson; robert Mullins; Alisdair R Philp; Edwin M Stone; N Mrosovsky
Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd).
Investigative ophthalmology & visual science 2008;49(6):2737-42.
2007: Roger E Davis; Ruth E Swiderski; Kamal Rahmouni; Darryl Y Nishimura; robert Mullins; Khristofor Agassandian; Alisdair R Philp; Charles C Searby; Michael P Andrews; Stewart Thompson; Christopher J Berry; Daniel R Thedens; Baoli Yang; Robert M Weiss; Martin D Cassell; Edwin M Stone; Val C Sheffield
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 of the United States of America 2007;104(49):19422-7.
2007: Andre R Ismail; Carolyn A Cates; robert Mullins; Ruth M Manners; Andrew J Lotery
Autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three-generation family.
Ophthalmic plastic and reconstructive surgery 2007;23(6):484-6.
2007: robert Mullins; Markus Kuehn; Elizabeth A Faidley; Nasreen A Syed; Edwin M Stone
Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease.
Investigative ophthalmology & visual science 2007;48(7):3372-80.
2007: Ruth E Swiderski; Darryl Y Nishimura; robert Mullins; Marissa A Olvera; Jean L Ross; Jian Huang; Edwin M Stone; Val C Sheffield
Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage.
Investigative ophthalmology & visual science 2007;48(7):3329-40.
2007: Benjamin Bakall; Roxana A Radu; J Brett Stanton; J M Burke; Brian S McKay; Claes Wadelius; robert Mullins; E M Stone; Gabriel H Travis; Alan D Marmorstein
Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2).
Experimental eye research 2007;85(1):34-43.
2007: Karina E Guziewicz; Barbara Zangerl; Sarah J Lindauer; robert Mullins; Lynne S Sandmeyer; Bruce H Grahn; Edwin M Stone; Gregory M Acland; Gustavo D Aguirre
Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.
Investigative ophthalmology & visual science 2007;48(5):1959-67.
2007: robert Mullins; Marissa A Olvera; Abbot F Clark; Edwin M Stone
Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration.
Experimental eye research 2007;84(2):378-80.
2007: Lawrence H Pinto; Martha Hotz Vitaterna; Kazuhiro Shimomura; Sandra M Siepka; Victoria Balannik; Erin L McDearmon; Chiaki Omura; Stephen Lumayag; Brandon M Invergo; Brett Glawe; Donald R Cantrell; Samsoon Inayat; Marissa A Olvera; Kirstan A Vessey; Maureen A McCall; Dennis Maddox; Catherine W Morgans; Brandon Young; Mathew Pletcher; robert Mullins; John B Troy; Joseph S Takahashi
Generation, identification and functional characterization of the nob4 mutation of Grm6 in the mouse.
Visual neuroscience 2007;24(1):111-23.
2007: robert Mullins
Genetic insights into the pathobiology of age-related macular degeneration.
International ophthalmology clinics 2007;47(1):1-14.
2006: Barbara Zangerl; Orly Goldstein; Alisdair R Philp; Sarah J P Lindauer; Susan E Pearce-Kelling; robert Mullins; Alexander Graphodatsky ; Daniel Ripoll; Jeanette S Felix; Edwin M Stone; Gregory M Acland; Gustavo D Aguirre
Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.
Genomics 2006;88(5):551-63.
2006: Michael Grassi; John H Fingert; Todd E Scheetz; Benjamin R Roos; Robert Ritch; Sheila K West; Kazuhide Kawase; Abdirashid M Shire; robert Mullins; Edwin M Stone
Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His.
Human mutation 2006;27(9):921-5.
2006: Hsan-jan Yen; Marwan K Tayeh; robert Mullins; Edwin M Stone; Val C Sheffield; Diane C Slusarski
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function.
Human molecular genetics 2006;15(5):667-77.
2006: robert Mullins; Jessica M Skeie; Elizabeth A Malone; Markus Kuehn
Macular and peripheral distribution of ICAM-1 in the human choriocapillaris and retina.
Molecular vision 2006;12():224-35.
2005: robert Mullins; Kean T Oh; Edward Heffron; Gregory S Hageman; Edwin M Stone
Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation.
Archives of ophthalmology 2005;123(11):1588-94.
2005: Lawrence H Pinto; Martha Hotz Vitaterna; Kazuhiro Shimomura; Sandra M Siepka; Erin L McDearmon; Deborah Fenner; Stephen Lumayag; Chiaki Omura; Anne W Andrews; Matthew Baker; Brandon M Invergo; Marissa A Olvera; Edward Heffron; robert Mullins; Val C Sheffield; Edwin M Stone; Joseph S Takahashi
Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse.
Visual neuroscience 2005;22(5):619-29.
2005: robert Mullins; Michael Grassi; Jessica M Skeie
Glycoconjugates of choroidal neovascular membranes in age-related macular degeneration.
Molecular vision 2005;11():509-17.
2005: Srini V Goverdhan; Martin W Howell; robert Mullins; Clive Osmond; Peter R Hodgkins; James Self; Kim Avery; Andrew J Lotery
Association of HLA class I and class II polymorphisms with age-related macular degeneration.
Investigative ophthalmology & visual science 2005;46(5):1726-34.
2005: Melissa A Fath; robert Mullins; Charles C Searby; Darryl Y Nishimura; Jun Wei; Kamal Rahmouni; Roger E Davis; Marwan K Tayeh; Michael Andrews; Baoli Yang; Curt D Sigmund; Edwin M Stone; Val C Sheffield
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.
Human molecular genetics 2005;14(9):1109-18.
2005: N H Victor Chong; Jason Keonin; Philip J Luthert; Christina Frennesson; David M Weingeist; Rachel L Wolf; robert Mullins; Gregory S Hageman
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.
The American journal of pathology 2005;166(1):241-51.
2004: Lawrence H Pinto; Martha Hotz Vitaterna; Sandra M Siepka; Kazuhiro Shimomura; Stephen Lumayag; Matthew Baker; Deborah Fenner; robert Mullins; Val C Sheffield; Edwin M Stone; Edward Heffron; Joseph S Takahashi
Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus.
Vision research 2004;44(28):3335-45.
2004: Darryl Y Nishimura; Melissa A Fath; robert Mullins; Charles C Searby; Michael Andrews; Roger Davis; Jean Andorf; Kirk Mykytyn; Ruth E Swiderski; Baoli Yang; Rivka Carmi; Edwin M Stone; Val C Sheffield
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 of the United States of America 2004;101(47):16588-93.
2004: Kirk Mykytyn; robert Mullins; Michael Andrews; Annie P Chiang; Ruth E Swiderski; Baoli Yang; Terry Braun; Thomas L Casavant; Edwin M Stone; Val C Sheffield
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 of the United States of America 2004;101(23):8664-9.
2004: Stephen R Russell; Raghav R Gupta; James C Folk; robert Mullins; Gregory S Hageman
Comparison of color to fluorescein angiographic images from patients with early-adult onset grouped drusen suggests drusen substructure.
American journal of ophthalmology 2004;137(5):924-30.
2003: Andrew J Lotery; Grace S Yang; robert Mullins; Stephen R Russell; Michael Schmidt; Edwin M Stone; Jonathan D Lindbloom; John A Chiorini; robert kotin; Beverly L Davidson
Adeno-associated virus type 5: transduction efficiency and cell-type specificity in the primate retina.
Human gene therapy 2003;14(17):1663-71.
2002: Don H Anderson; robert Mullins; Gregory S Hageman; Lincoln V Johnson
A role for local inflammation in the formation of drusen in the aging eye.
American journal of ophthalmology 2002;134(3):411-31.
2002: Andrew J Lotery; Todd A Derksen; Stephen R Russell; robert Mullins; Sybille L Sauter; Louisa M Affatigato; Edwin M Stone; Beverly L Davidson
Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors.
Human gene therapy 2002;13(6):689-96.
2001: Gregory S Hageman; Philip J Luthert; N H Victor Chong; Lincoln V Johnson; Don H Anderson; robert Mullins
An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration.
Progress in retinal and eye research 2001;20(6):705-32.
2001: Kumar N Alagramam; H Yuan; Markus Kuehn; Crystal L Murcia; S Wayne; C R Srisailpathy; R Brian Lowry; R Knaus; L Van Laer; Francois P Bernier; Stuart Schwartz; C Lee; C C Morton; robert Mullins; A Ramesh; G Van Camp; G S Hageman; Richard P Woychik; R J Smith; G S Hagemen
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
Human molecular genetics 2001;10(16):1709-18.
2001: robert Mullins; N Aptsiauri; Gregory S Hageman
Structure and composition of drusen associated with glomerulonephritis: implications for the role of complement activation in drusen biogenesis.
Eye (London, England) 2001;15(Pt 3):390-5.
2001: Don H Anderson; S Ozaki; M Nealon; Jay Neitz; robert Mullins; Gregory S Hageman; Lincoln V Johnson
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;131(6):767-81.
2001: Abbot F Clark; Kazuhide Kawase; Sherry English-Wright; D Lane; henry steely; T Yamamoto; Yoshiaki Kitazawa; Young H Kwon; John H Fingert; Ruth E Swiderski; robert Mullins; Gregory S Hageman; Wallace L M Alward; Val C Sheffield; Edwin M Stone
Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2001;15(7):1251-3.
2000: robert Mullins; Stephen R Russell; Don H Anderson; Gregory S Hageman
Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2000;14(7):835-46.
2000: Stephen R Russell; robert Mullins; B L Schneider; Gregory S Hageman
Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration.
American journal of ophthalmology 2000;129(2):205-14.
1999: Don H Anderson; Gregory S Hageman; robert Mullins; Maureen Neitz; Jay Neitz; S Ozaki; K T Preissner; Lincoln V Johnson
Vitronectin gene expression in the adult human retina.
Investigative ophthalmology & visual science 1999;40(13):3305-15.
1999: robert Mullins; Gregory S Hageman
Human ocular drusen possess novel core domains with a distinct carbohydrate composition.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 1999;47(12):1533-40.
1999: Gregory S Hageman; robert Mullins
Molecular composition of drusen as related to substructural phenotype.
Molecular vision 1999;5():28.
1999: S Ozaki; Lincoln V Johnson; robert Mullins; Gregory S Hageman; Don H Anderson
The human retina and retinal pigment epithelium are abundant sources of vitronectin mRNA.
Biochemical and biophysical research communications 1999;258(3):524-9.
1999: Gregory S Hageman; robert Mullins; Stephen R Russell; Lincoln V Johnson; Don H Anderson
Vitronectin is a constituent of ocular drusen and the vitronectin gene is expressed in human retinal pigmented epithelial cells.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1999;13(3):477-84.
1997: robert Mullins; Lincoln V Johnson; Don H Anderson; Gregory S Hageman
Characterization of drusen-associated glycoconjugates.
Ophthalmology 1997;104(2):288-94.