Edwin M Stone

Edwin M Stone

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Edwin M Stone

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Scleral pits represent degeneration around the posterior ciliary arteries and are signs of disease severity in choroideremia.

Eye (Lond) 2019 Sep 25. Epub 2019 Sep 25.

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.1038/s41433-019-0599-4DOI Listing
September 2019

Two-color pupillometry in KCNV2 retinopathy.

Doc Ophthalmol 2019 08 29;139(1):11-20. Epub 2019 Mar 29.

Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicine, 1905 West Taylor St, Chicago, IL, 60612, USA.

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http://dx.doi.org/10.1007/s10633-019-09691-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625896PMC
August 2019

Optimizing Donor Cellular Dissociation and Subretinal Injection Parameters for Stem Cell-Based Treatments.

Stem Cells Transl Med 2019 Aug 19;8(8):797-809. Epub 2019 Apr 19.

University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1002/sctm.18-0210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6646699PMC
August 2019

Two-photon polymerized poly(caprolactone) retinal cell delivery scaffolds and their systemic and retinal biocompatibility.

Acta Biomater 2019 Aug 3;94:204-218. Epub 2019 May 3.

Institute for Vision Research, Department of Ophthalmology and Visual Science, Carver College of Medicine, The University of Iowa, 4111 Medical Education and Research Facility, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.actbio.2019.04.057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659122PMC
August 2019

Development of a Molecularly Stable Gene Therapy Vector for the Treatment of -Associated X-Linked Retinitis Pigmentosa.

Hum Gene Ther 2019 Aug;30(8):967-974

Department of Ophthalmology and Visual Sciences, Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1089/hum.2018.244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6703244PMC
August 2019

Choriocapillaris Degeneration in Geographic Atrophy.

Am J Pathol 2019 Jul 30;189(7):1473-1480. Epub 2019 Apr 30.

Institute for Vision Research, University of Iowa, Iowa City, Iowa; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2019.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616998PMC
July 2019

Generation of an immortalized human choroid endothelial cell line (iChEC-1) using an endothelial cell specific promoter.

Microvasc Res 2019 05 18;123:50-57. Epub 2018 Dec 18.

Institute for Vision Research, The University of Iowa, Iowa City, IA, USA; Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, IA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00262862183022
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http://dx.doi.org/10.1016/j.mvr.2018.12.002DOI Listing
May 2019

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

Genes (Basel) 2019 04 5;10(4). Epub 2019 Apr 5.

Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52241, USA.

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http://dx.doi.org/10.3390/genes10040278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6523438PMC
April 2019

Wide-Field Swept-Source OCT and Angiography in X-Linked Retinoschisis.

Ophthalmol Retina 2019 Feb 19;3(2):178-185. Epub 2018 Sep 19.

University of Iowa Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, Iowa City, Iowa.

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https://linkinghub.elsevier.com/retrieve/pii/S24686530183042
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http://dx.doi.org/10.1016/j.oret.2018.09.006DOI Listing
February 2019

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.

Proc Natl Acad Sci U S A 2019 01 8;116(4):1353-1360. Epub 2019 Jan 8.

Department of Pediatrics, University of Iowa, Iowa City, IA 52242;

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http://dx.doi.org/10.1073/pnas.1817639116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347721PMC
January 2019

Correlation of Optical Coherence Tomography and Retinal Histology in Normal and Pro23His Retinal Degeneration Pig.

Transl Vis Sci Technol 2018 Nov 30;7(6):18. Epub 2018 Nov 30.

Carver College of Medicine, Department of Ophthalmology and Visual Sciences, Institute for Vision Research, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

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http://tvst.arvojournals.org/article.aspx?doi=10.1167/tvst.7
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http://dx.doi.org/10.1167/tvst.7.6.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6269133PMC
November 2018

CHOROIDAL NEOVASCULARIZATION IN NORTH CAROLINA MACULAR DYSTROPHY RESPONSIVE TO ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY.

Retin Cases Brief Rep 2018 Oct 31. Epub 2018 Oct 31.

Molecular Insight Research Foundation, Glendale, California.

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http://dx.doi.org/10.1097/ICB.0000000000000838DOI Listing
October 2018

Swept-Source OCT of a Macular Coloboma in NMNAT1-Leber Congenital Amaurosis.

Ophthalmol Retina 2018 10 3;2(10):1040. Epub 2018 Oct 3.

Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa Hospital and Clinics, Iowa City, Iowa.

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http://dx.doi.org/10.1016/j.oret.2018.07.009DOI Listing
October 2018

Effect of Molecular Weight and Functionality on Acrylated Poly(caprolactone) for Stereolithography and Biomedical Applications.

Biomacromolecules 2018 09 9;19(9):3682-3692. Epub 2018 Aug 9.

Department of Chemical and Biochemical Engineering , The University of Iowa , 4133 Seamans Center , Iowa City , Iowa 52242 , United States.

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http://dx.doi.org/10.1021/acs.biomac.8b00784DOI Listing
September 2018

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration.

Prog Retin Eye Res 2018 07 22;65:28-49. Epub 2018 Mar 22.

Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2018.03.003DOI Listing
July 2018

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.

Am J Ophthalmol 2018 06 17;190:58-68. Epub 2018 Mar 17.

Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2018.03.021DOI Listing
June 2018

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

Ophthalmic Genet 2018 Jan-Feb;39(1):68-72. Epub 2017 Sep 26.

a The Stephen A. Wynn Institute for Vision Research and the Department of Ophthalmology and Visual Sciences , The University of Iowa , Iowa City , Iowa , USA.

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http://dx.doi.org/10.1080/13816810.2017.1369550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5751420PMC
March 2018

CRISPR-Cas9-Based Genome Editing of Human Induced Pluripotent Stem Cells.

Curr Protoc Stem Cell Biol 2018 02 28;44:5B.7.1-5B.7.22. Epub 2018 Feb 28.

Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1002/cpsc.46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846340PMC
February 2018

Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.

Ophthalmic Genet 2017 Jan-Feb;38(1):43-50. Epub 2017 Jan 17.

a Department of Ophthalmology and Visual Sciences , University of Wisconsin - Madison , Madison , Wisconsin , USA.

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http://dx.doi.org/10.1080/13816810.2016.1275018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6680000PMC
November 2017

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

Ophthalmology 2017 09 27;124(9):1314-1331. Epub 2017 May 27.

Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa; Stephen A. Wynn Institute for Vision Research, the University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1016/j.ophtha.2017.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565704PMC
September 2017

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

Mol Ther 2017 09 12;25(9):1999-2013. Epub 2017 Jun 12.

Stephen A. Wynn Institute for Vision Research and Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA 52241, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2017.05.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589061PMC
September 2017

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.

PLoS One 2017 3;12(1):e0169215. Epub 2017 Jan 3.

Stein Eye Institute, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0169215PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5207508PMC
August 2017

Primary congenital and developmental glaucomas.

Hum Mol Genet 2017 08;26(R1):R28-R36

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1093/hmg/ddx205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886473PMC
August 2017

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

Curr Protoc Stem Cell Biol 2017 Aug 14;42:4A.12.1-4A.12.14. Epub 2017 Aug 14.

Stephen A. Wynn, Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1002/cpsc.30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609845PMC
August 2017

SQSTM1 Mutations and Glaucoma.

PLoS One 2016 8;11(6):e0156001. Epub 2016 Jun 8.

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0156001PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898711PMC
July 2017

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

Acta Biomater 2017 07 5;57:293-303. Epub 2017 May 5.

The Stephen A. Wynn Institute for Vision Research, The University of Iowa, Iowa City, IA 52246, USA; Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, IA 52246, USA. Electronic address:

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http://dx.doi.org/10.1016/j.actbio.2017.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5515248PMC
July 2017

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

Acta Biomater 2017 06 27;55:385-395. Epub 2017 Mar 27.

Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, 4111 Medical Education and Research Facility, 375 Newton Road, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.actbio.2017.03.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495181PMC
June 2017

Bestrophinopathy: An RPE-photoreceptor interface disease.

Prog Retin Eye Res 2017 05 19;58:70-88. Epub 2017 Jan 19.

Department of Clinical Studies-Philadelphia, School of Veterinary Medicine, University of Pennsylvania, PA 19104, USA.

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http://dx.doi.org/10.1016/j.preteyeres.2017.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441932PMC
May 2017

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

Stem Cell Res 2017 05 18;21:58-70. Epub 2017 Mar 18.

Stephen A Wynn Institute for Vision Research, Department of Ophthalmology and Visual Science, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2017.03.005DOI Listing
May 2017

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

J Pathol 2016 10 19;240(2):173-83. Epub 2016 Sep 19.

The Stephen A Wynn Institute for Vision Research, The University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1002/path.4766DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5527328PMC
October 2016

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

Hum Gene Ther 2016 10 11;27(10):835-846. Epub 2016 Jul 11.

Department of Ophthalmology and Visual Sciences, Stephen A. Wynn Institute for Vision Research, Carver College of Medicine, University of Iowa , Iowa City, Iowa.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035933PMC
http://dx.doi.org/10.1089/hum.2016.049DOI Listing
October 2016

Clinically detectable drusen domains in fibulin-5-associated age-related macular degeneration (AMD) : Drusen subdomains in fibulin-5 AMD.

Int Ophthalmol 2016 Aug 23;36(4):569-75. Epub 2015 Dec 23.

Department of Ophthalmology and Visual Sciences, Stephen A. Wynn Institute for Vision Research, Carver College of Medicine, The University of Iowa, Iowa City, IA, 52242, USA.

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http://dx.doi.org/10.1007/s10792-015-0164-5DOI Listing
August 2016

Abnormal 8-Hz flicker electroretinograms in carriers of X-linked retinoschisis.

Doc Ophthalmol 2016 08 1;133(1):61-70. Epub 2016 Jul 1.

Stephen A. Wynn Institute for Vision Research, Department Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.1007/s10633-016-9551-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556686PMC
August 2016

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

Sci Rep 2016 07 29;6:30742. Epub 2016 Jul 29.

Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.1038/srep30742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4965859PMC
July 2016

Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.

Mol Vis 2015 1;21:1017-23. Epub 2015 Sep 1.

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa ; The Wynn Institute for Vision Research, University of Iowa.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4556162PMC
June 2016

Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations.

Doc Ophthalmol 2016 06 31;132(3):157-66. Epub 2016 Mar 31.

Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicine, 1905 West Taylor St., Chicago, IL, 60612, USA.

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http://dx.doi.org/10.1007/s10633-016-9535-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6088747PMC
June 2016

Distinguishing optic pathway glioma and retinitis pigmentosa with visual field testing.

Can J Ophthalmol 2016 Jun 16;51(3):e94-6. Epub 2016 Apr 16.

University of Iowa, Iowa City, Iowa; Howard Hughes Medical Institute, Iowa City, Iowa. Electronic address:

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http://dx.doi.org/10.1016/j.jcjo.2016.01.009DOI Listing
June 2016

Selective accumulation of the complement membrane attack complex in aging choriocapillaris.

Exp Eye Res 2016 05 11;146:393-7. Epub 2015 Sep 11.

The Stephen A. Wynn Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, IA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2015.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4788569PMC
May 2016

Phenotypic Variation in a Family With Pseudodominant Stargardt Disease.

JAMA Ophthalmol 2016 May;134(5):580-583

Stephen A. Wynn Institute for Vision Research, Iowa City, Iowa2Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City.

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http://dx.doi.org/10.1001/jamaophthalmol.2015.5471DOI Listing
May 2016

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

Curr Protoc Stem Cell Biol 2016 05 12;37:1C.19.1-1C.19.11. Epub 2016 May 12.

Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1002/cpsc.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900235PMC
May 2016

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

J Pathol 2016 Feb 24;238(3):446-56. Epub 2015 Dec 24.

Stephen A Wynn Institute for Vision Research and Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.1002/path.4669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900182PMC
February 2016

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

Stem Cells Transl Med 2016 Feb 18;5(2):132-40. Epub 2015 Dec 18.

Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA

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http://dx.doi.org/10.5966/sctm.2015-0206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729558PMC
February 2016

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.

Invest Ophthalmol Vis Sci 2016 Feb;57(2):349-59

Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, Texas, United States 5Ruiz Department of Ophthalmology and Visual Science, University of Texas Health Science Center, Houston, Texas, United States.

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http://dx.doi.org/10.1167/iovs.15-16965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736744PMC
February 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.

Transl Res 2015 Dec 29;166(6):740-749.e1. Epub 2015 Aug 29.

Stephen A Wynn Institute for Vision Research, Department of Ophthalmology and Visual Science, Carver College of Medicine, University of Iowa, Iowa City, Iowa; Howard Hughes Medical Institute, Department of Ophthalmology and Visual Science, University of Iowa, Iowa City, Iowa. Electronic address:

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http://dx.doi.org/10.1016/j.trsl.2015.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4702513PMC
December 2015

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

Invest Ophthalmol Vis Sci 2015 Dec;56(13):8258-67

Stephen A. Wynn Institute for Vision Research Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, United States.

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http://dx.doi.org/10.1167/iovs.15-17073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110238PMC
December 2015

Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients.

Invest Ophthalmol Vis Sci 2015 Nov;56(12):7130-6

The University of Iowa Carver College of Medicine, Department of Ophthalmology and Visual Sciences, Stephen A. Wynn Institute for Vision Research, Howard Hughes Medical Institute, Iowa City, Iowa, United States.

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http://dx.doi.org/10.1167/iovs.15-17467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634626PMC
November 2015

Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front.

Invest Ophthalmol Vis Sci 2015 Sep;56(10):5946-55

Scheie Eye Institute Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.

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http://dx.doi.org/10.1167/iovs.15-17698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572941PMC
September 2015

Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness.

JAMA Ophthalmol 2015 Aug;133(8):967-8

Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City2Howard Hughes Medical Institute, Iowa City, Iowa.

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http://dx.doi.org/10.1001/jamaophthalmol.2015.1463DOI Listing
August 2015

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

Sci Rep 2015 Jul 3;5:11791. Epub 2015 Jul 3.

Stephen A Wynn Institute for Vision Research, Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, IA.

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http://dx.doi.org/10.1038/srep11791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490339PMC
July 2015

Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11.

JAMA Ophthalmol 2015 Jun;133(6):720-1

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City2Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City3Howard Hughes Medical Institute, University of Iowa, Iowa City.

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http://dx.doi.org/10.1001/jamaophthalmol.2015.199DOI Listing
June 2015

Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis.

Sci Transl Med 2015 Jun;7(291):291ra97

Center for Advanced Retinal and Ocular Therapeutics, F. M. Kirby Center for Molecular Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1126/scitranslmed.aaa5370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486480PMC
June 2015

Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.

JAMA Ophthalmol 2015 May;133(5):511-7

Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston6Department of Ophthalmology and Visual Science, University of Texas Health Science Center, Houston.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.6115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449732PMC
May 2015

Genetic testing for age-related macular degeneration: not indicated now.

Authors:
Edwin M Stone

JAMA Ophthalmol 2015 May;133(5):598-600

The University of Iowa Carver College of Medicine, Department of Ophthalmology and Visual Sciences, Stephen A. Wynn Institute for Vision Research, Howard Hughes Medical Institute, Iowa City.

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http://dx.doi.org/10.1001/jamaophthalmol.2015.0369DOI Listing
May 2015

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

Prog Retin Eye Res 2015 Mar 5;45:1-29. Epub 2014 Dec 5.

The Stephen A. Wynn Institute for Vision Research, The University of Iowa, United States; Department of Ophthalmology and Visual Sciences, The University of Iowa, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S13509462140007
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http://dx.doi.org/10.1016/j.preteyeres.2014.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339497PMC
March 2015

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

JAMA Ophthalmol 2015 Mar;133(3):297-303

Vitreoretinal Service, Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City2The Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.5168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777152PMC
March 2015

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

Retina 2015 Jan;35(1):48-57

*Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, Iowa; Departments of †Ophthalmology and Visual Sciences, and ‡Biostatistics, University of Iowa, Iowa City, Iowa; and §The Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1097/IAE.0000000000000263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5513174PMC
January 2015

Vitritis in pediatric genetic retinal disorders.

Ophthalmology 2015 Jan 10;122(1):192-9. Epub 2014 Sep 10.

Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa; University of Iowa, Stephen A. Wynn Institute for Vision Research, Iowa City, Iowa. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2014.07.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277925PMC
January 2015

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

Prog Retin Eye Res 2015 Jan 4;44:15-35. Epub 2014 Nov 4.

Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2014.10.002DOI Listing
January 2015

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

Exp Eye Res 2014 Dec 5;129:93-106. Epub 2014 Nov 5.

Stephen A. Wynn Institute for Vision Research, The University of Iowa, Iowa City, IA, USA; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA; Department of Biomedical Engineering, College of Engineering, The University of Iowa, Iowa City, IA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2014.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259842PMC
December 2014

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

Cold Spring Harb Perspect Med 2014 Dec 11;5(5):a017160. Epub 2014 Dec 11.

Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa 52242.

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http://dx.doi.org/10.1101/cshperspect.a017160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448588PMC
December 2014

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

Am J Pathol 2014 Nov 7;184(11):3142-53. Epub 2014 Sep 7.

Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, Iowa; Stephen A. Wynn Institute for Vision Research, The University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1016/j.ajpath.2014.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215023PMC
November 2014

Gene therapy using stem cells.

Cold Spring Harb Perspect Med 2014 Nov 13;5(4). Epub 2014 Nov 13.

The Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa 52242.

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http://dx.doi.org/10.1101/cshperspect.a017434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382729PMC
November 2014

Stem cells for investigation and treatment of inherited retinal disease.

Hum Mol Genet 2014 Sep 18;23(R1):R9-R16. Epub 2014 Mar 18.

Stephen A. Wynn Institute for Vision Research and Howard Hughes Medical Institute, Department of Ophthalmology and Visual Science, Carver College of Medicine, University of Iowa, Iowa city, IA, USA

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddu124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170716PMC
September 2014

Outer segment length in different best disease genotypes.

JAMA Ophthalmol 2014 Sep;132(9):1152-3

Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City.

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http://archopht.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaophthalmol.2014.2980DOI Listing
September 2014

The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease.

Retina 2014 Jul;34(7):1391-9

*Pangere Center for Inherited Retinal Disease, The Chicago Lighthouse For People Who Are Blind or Visually Impaired, Chicago, Illinois; †Department of Ophthalmology, University of Illinois, Chicago, Illinois; ‡Howard Hughes Medical Institute, Chevy Chase, MD; §Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, Iowa; and ¶Department of Ophthalmology, Columbia University, New York, New York.

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http://dx.doi.org/10.1097/IAE.0000000000000070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098760PMC
July 2014

Is age-related macular degeneration a microvascular disease?

Adv Exp Med Biol 2014 ;801:283-9

Department of Ophthalmology and Visual Sciences, The University of Lowa, 52242, Lowa City, IA, USA,

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http://dx.doi.org/10.1007/978-1-4614-3209-8_36DOI Listing
July 2014

TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.

Invest Ophthalmol Vis Sci 2014 Jul 29;55(8):5354-64. Epub 2014 Jul 29.

Department of Ophthalmology, University of Iowa Carver College of Medicine, Iowa City, Iowa, United States Howard Hughes Medical Institute, Iowa City, Iowa, United States.

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http://dx.doi.org/10.1167/iovs.14-14570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4580213PMC
July 2014

Mechanical properties of murine and porcine ocular tissues in compression.

Exp Eye Res 2014 Apr 5;121:194-9. Epub 2014 Mar 5.

Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, IA, USA; The Stephen A. Wynn Institute for Vision Research, University of Iowa, Iowa City, IA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2014.02.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3997121PMC
April 2014

Altered gene expression in dry age-related macular degeneration suggests early loss of choroidal endothelial cells.

Mol Vis 2013 16;19:2274-97. Epub 2013 Nov 16.

Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, IA ; Stephen A. Wynn Institute for Vision Research, The University of Iowa, Iowa City, IA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3834599PMC
March 2014

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

Invest Ophthalmol Vis Sci 2014 Mar 6;55(3):1352-60. Epub 2014 Mar 6.

Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1167/iovs.13-13754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3945900PMC
March 2014

Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.

Invest Ophthalmol Vis Sci 2014 Mar 20;55(3):1810-22. Epub 2014 Mar 20.

Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.13-13768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968929PMC
March 2014

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

Invest Ophthalmol Vis Sci 2014 Mar 25;55(3):1859-66. Epub 2014 Mar 25.

Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1167/iovs.13-13661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968928PMC
March 2014

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

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Author reply: To PMID 22944025.

Ophthalmology 2013 Oct;120(10):e73

Ophthalmology and Visual Sciences Department, University of Iowa Carver College of Medicine, Iowa City, Iowa.

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http://dx.doi.org/10.1016/j.ophtha.2013.07.008DOI Listing
October 2013

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

Elife 2013 Aug 27;2:e00824. Epub 2013 Aug 27.

Department of Ophthalmology and Visual Sciences , University of Iowa Carver College of Medicine , Iowa City , United States.

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http://dx.doi.org/10.7554/eLife.00824DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755341PMC
August 2013