Stephen H Tsang

Stephen H Tsang

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Stephen H Tsang

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Inhibition of Ca channel surface expression by mutant bestrophin-1 in RPE cells.

FASEB J 2020 Mar 12;34(3):4055-4071. Epub 2020 Jan 12.

Experimental Ophthalmology, Department of Ophthalmology, Charité - Universitätsmedizin Berlin, a corporate member of Freie Universität, Humboldt-University, the Berlin Institute of Health, Berlin, Germany.

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http://dx.doi.org/10.1096/fj.201901202RRDOI Listing
March 2020

Quasidominance in autosomal recessive -Leber congenital amaurosis.

Ophthalmic Genet 2020 Mar 16:1-3. Epub 2020 Mar 16.

Department of Ophthalmology , Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1080/13816810.2020.1737949DOI Listing
March 2020

Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.

Doc Ophthalmol 2020 02 19;140(1):67-75. Epub 2019 Sep 19.

Jonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1007/s10633-019-09719-1DOI Listing
February 2020

Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the D477G mutation in .

Cold Spring Harb Mol Case Stud 2020 Feb 3;6(1). Epub 2020 Feb 3.

Edward S. Harkness Eye Institute, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/mcs.a004952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996519PMC
February 2020

Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration.

EBioMedicine 2020 Feb 3;52:102636. Epub 2020 Feb 3.

Omics Laboratory, Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA 94304, United States; Veterans Affairs Palo Alto Health Care System, Palo Alto, CA 94304, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2020.102636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005447PMC
February 2020

Progressive RPE atrophy and photoreceptor death in -associated autosomal recessive retinitis pigmentosa.

Ophthalmic Genet 2020 Feb 13;41(1):26-30. Epub 2020 Feb 13.

Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, New York, USA.

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http://dx.doi.org/10.1080/13816810.2020.1723116DOI Listing
February 2020

Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Sci Rep 2020 Feb 25;10(1):3364. Epub 2020 Feb 25.

Edward S. Harkness Eye Institute, Columbia University Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1038/s41598-020-60137-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042348PMC
February 2020

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.

Hum Mutat 2019 12 26;40(12):2377-2392. Epub 2019 Aug 26.

Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, California.

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http://dx.doi.org/10.1002/humu.23894DOI Listing
December 2019

Compound heterozygous novel frameshift variants in the gene result in Leber congenital amaurosis.

Cold Spring Harb Mol Case Stud 2019 Dec 13;5(6). Epub 2019 Dec 13.

Department of Ophthalmology, Columbia University, New York, New York 10019, USA.

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http://dx.doi.org/10.1101/mcs.a004481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913139PMC
December 2019

Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.

Sci Rep 2019 Dec 13;9(1):19026. Epub 2019 Dec 13.

Department of Pharmacology and Physiology, University of Rochester, School of Medicine and Dentistry, Rochester, NY, 14642, USA.

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http://dx.doi.org/10.1038/s41598-019-54892-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6910965PMC
December 2019

Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.

Am J Ophthalmol 2019 11 8;207:77-86. Epub 2019 Jun 8.

Department of Ophthalmology, Columbia University Medical Center, New York, New York, USA; Department of Pathology & Cell Biology, Columbia University Medical Center, New York, New York, USA; Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, New York, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2019.06.002DOI Listing
November 2019

Hypoxic drive caused type 3 neovascularization in a preclinical model of exudative age-related macular degeneration.

Hum Mol Genet 2019 10;28(20):3475-3485

Jonas Children's Vision Care and the Bernard & Shirlee Brown Glaucoma Laboratory, Herbert Irving Comprehensive Cancer Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1093/hmg/ddz159DOI Listing
October 2019

VITAMIN A DEFICIENCY MONITORED BY QUANTITATIVE SHORT WAVELENGTH FUNDUS AUTOFLUORESCENCE IN A CASE OF BARIATRIC SURGERY.

Retin Cases Brief Rep 2019 Oct 25. Epub 2019 Oct 25.

Department of Ophthalmology, Columbia University, New York, New York.

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http://dx.doi.org/10.1097/ICB.0000000000000931DOI Listing
October 2019

Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a Rho mutation.

Cell Mol Life Sci 2019 Sep 11;76(18):3657-3665. Epub 2019 Apr 11.

Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology, and Cell Biology, Columbia University, New York, NY, 10032, USA.

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http://dx.doi.org/10.1007/s00018-019-03090-9DOI Listing
September 2019

Distinct Imprinting Signatures and Biased Differentiation of Human Androgenetic and Parthenogenetic Embryonic Stem Cells.

Cell Stem Cell 2019 Sep;25(3):419-432.e9

Department of Obstetrics and Gynecology and Columbia University Fertility Center, Columbia University, College of Physicians & Surgeons, New York, NY 10032, USA; Department of Pediatrics, Naomi Berrie Diabetes Center, Columbia Stem Cell Initiative, Columbia University, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2019.06.013DOI Listing
September 2019

Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers.

Invest Ophthalmol Vis Sci 2019 09;60(12):3752-3761

Department of Ophthalmology Columbia University Medical Center, New York, New York, United States.

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http://dx.doi.org/10.1167/iovs.19-27366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735265PMC
September 2019

Retinal Histology and Anatomical Landmarks.

Adv Exp Med Biol 2018;1085:3-5

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_1
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http://dx.doi.org/10.1007/978-3-319-95046-4_1DOI Listing
July 2019

Fluorescein Angiography.

Adv Exp Med Biol 2018;1085:7-10

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_2DOI Listing
July 2019

Optical Coherence Tomography.

Adv Exp Med Biol 2018;1085:11-13

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_3
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http://dx.doi.org/10.1007/978-3-319-95046-4_3DOI Listing
July 2019

Fundus Autofluorescence.

Adv Exp Med Biol 2018;1085:15-16

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_4DOI Listing
July 2019

Electroretinography.

Adv Exp Med Biol 2018;1085:17-20

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_5
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http://dx.doi.org/10.1007/978-3-319-95046-4_5DOI Listing
July 2019

Electrooculography.

Adv Exp Med Biol 2018;1085:21-22

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_6DOI Listing
July 2019

Glossary of Relevant Genetic and Molecular/Cell Biology.

Adv Exp Med Biol 2018;1085:23-28

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_7DOI Listing
July 2019

X-linked Retinitis Pigmentosa.

Adv Exp Med Biol 2018;1085:31-35

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_8DOI Listing
July 2019

X-linked Choroideremia.

Adv Exp Med Biol 2018;1085:37-42

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_9DOI Listing
July 2019

X-linked Juvenile Retinoschisis.

Adv Exp Med Biol 2018;1085:43-48

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_10DOI Listing
July 2019

X-linked Ocular Albinism.

Adv Exp Med Biol 2018;1085:49-52

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_11DOI Listing
July 2019

Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR).

Adv Exp Med Biol 2018;1085:53-60

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_12DOI Listing
July 2019

Congenital Stationary Night Blindness.

Adv Exp Med Biol 2018;1085:61-64

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_13DOI Listing
July 2019

Blue Cone Monochromatism.

Adv Exp Med Biol 2018;1085:65-66

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_14DOI Listing
July 2019

Autosomal Dominant Retinitis Pigmentosa.

Adv Exp Med Biol 2018;1085:69-77

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_15
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http://dx.doi.org/10.1007/978-3-319-95046-4_15DOI Listing
July 2019

Best Vitelliform Macular Dystrophy.

Adv Exp Med Biol 2018;1085:79-90

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_16DOI Listing
July 2019

Pattern Dystrophy.

Adv Exp Med Biol 2018;1085:91-96

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_17DOI Listing
July 2019

Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen).

Adv Exp Med Biol 2018;1085:97-102

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_18DOI Listing
July 2019

Occult Macular Dystrophy.

Adv Exp Med Biol 2018;1085:103-104

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_19DOI Listing
July 2019

Sorsby Pseudoinflammatory Fundus Dystrophy.

Adv Exp Med Biol 2018;1085:105-108

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_20DOI Listing
July 2019

North Carolina Macular Dystrophy.

Adv Exp Med Biol 2018;1085:109-110

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_21
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http://dx.doi.org/10.1007/978-3-319-95046-4_21DOI Listing
July 2019

Pigmented Paravenous Chorioretinal Atrophy (PPCRA).

Adv Exp Med Biol 2018;1085:111-113

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_22DOI Listing
July 2019

Late-Onset Retinal Degeneration.

Adv Exp Med Biol 2018;1085:115-116

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_23DOI Listing
July 2019

Correlation between B-scan optical coherence tomography, en face thickness map ring and hyperautofluorescent ring in retinitis pigmentosa patients.

Graefes Arch Clin Exp Ophthalmol 2019 Aug 2;257(8):1601-1609. Epub 2019 May 2.

Department of Ophthalmology, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1007/s00417-019-04265-7DOI Listing
August 2019

Significant Vision Recovery after Early Treatment of Diffuse Unilateral Subacute Neuroretinitis.

Ophthalmol Retina 2019 08;3(8):709

Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University College of Physicians and Surgeons, New York, New York; Department of Pathology & Cell Biology, Stem Cell Initiative, Columbia University College of Physicians and Surgeons, New York, New York.

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http://dx.doi.org/10.1016/j.oret.2019.04.016DOI Listing
August 2019

Non-paraneoplastic related retinopathy: clinical challenges and review.

Ophthalmic Genet 2019 08 8;40(4):293-297. Epub 2019 Aug 8.

Department of Ophthalmology, Columbia University , New York , NY , USA.

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http://dx.doi.org/10.1080/13816810.2019.1650072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6774818PMC
August 2019

Choroidal neovascularization in an adolescent with -associated retinal degeneration.

Ophthalmic Genet 2019 08 19;40(4):362-364. Epub 2019 Aug 19.

Vitreous Retina Macula Consultants of New York , New York , New York , USA.

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http://dx.doi.org/10.1080/13816810.2019.1655770DOI Listing
August 2019

CLIC4 regulates late endosomal trafficking and matrix degradation activity of MMP14 at focal adhesions in RPE cells.

Sci Rep 2019 Aug 22;9(1):12247. Epub 2019 Aug 22.

Department of Ophthalmology, Weill Medical College of Cornell University, New York, NY, USA.

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http://dx.doi.org/10.1038/s41598-019-48438-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706427PMC
August 2019

Modification of the disease phenotype by a mutation in .

Ophthalmic Genet 2019 08 6;40(4):369-375. Epub 2019 Sep 6.

Department of Ophthalmology, Columbia University , New York , New York , USA.

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http://dx.doi.org/10.1080/13816810.2019.1660382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777736PMC
August 2019

Rod Monochromatism (Achromatopsia).

Adv Exp Med Biol 2018;1085:119-123

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_24DOI Listing
July 2019

Retinitis Pigmentosa (Non-syndromic).

Adv Exp Med Biol 2018;1085:125-130

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_25DOI Listing
July 2019

Leber Congenital Amaurosis.

Adv Exp Med Biol 2018;1085:131-137

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_26
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http://dx.doi.org/10.1007/978-3-319-95046-4_26DOI Listing
July 2019

Stargardt Disease.

Adv Exp Med Biol 2018;1085:139-151

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_27
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http://dx.doi.org/10.1007/978-3-319-95046-4_27DOI Listing
July 2019

Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome).

Adv Exp Med Biol 2018;1085:153-156

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_28DOI Listing
July 2019

Best Vitelliform Macular Dystrophy.

Adv Exp Med Biol 2018;1085:157-158

Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_29
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http://dx.doi.org/10.1007/978-3-319-95046-4_29DOI Listing
July 2019

Mitochondrial Disorder: Kearns-Sayre Syndrome.

Adv Exp Med Biol 2018;1085:161-162

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_30DOI Listing
July 2019

Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness.

Adv Exp Med Biol 2018;1085:163-165

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_31
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http://dx.doi.org/10.1007/978-3-319-95046-4_31DOI Listing
July 2019

Ciliopathy: Usher Syndrome.

Adv Exp Med Biol 2018;1085:167-170

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_32DOI Listing
July 2019

Ciliopathy: Bardet-Biedl Syndrome.

Adv Exp Med Biol 2018;1085:171-174

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://dx.doi.org/10.1007/978-3-319-95046-4_33DOI Listing
July 2019

Ciliopathy: Senior-Løken Syndrome.

Adv Exp Med Biol 2018;1085:175-178

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_34
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http://dx.doi.org/10.1007/978-3-319-95046-4_34DOI Listing
July 2019

Ciliopathy: Alström Syndrome.

Adv Exp Med Biol 2018;1085:179-180

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_35
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http://dx.doi.org/10.1007/978-3-319-95046-4_35DOI Listing
July 2019

Ciliopathy: Sjögren-Larsson Syndrome.

Adv Exp Med Biol 2018;1085:181-182

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_36
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http://dx.doi.org/10.1007/978-3-319-95046-4_36DOI Listing
July 2019

Inborn Errors of Metabolism: Gyrate Atrophy.

Adv Exp Med Biol 2018;1085:183-185

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_37
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http://dx.doi.org/10.1007/978-3-319-95046-4_37DOI Listing
July 2019

Inborn Errors of Metabolism: Pseudoxanthoma Elasticum.

Adv Exp Med Biol 2018;1085:187-189

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_38
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http://dx.doi.org/10.1007/978-3-319-95046-4_38DOI Listing
July 2019

Inborn Errors of Metabolism: Refsum Disease.

Adv Exp Med Biol 2018;1085:191-192

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_39
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http://dx.doi.org/10.1007/978-3-319-95046-4_39DOI Listing
July 2019

Inborn Errors of Metabolism: Bietti Crystalline Dystrophy.

Adv Exp Med Biol 2018;1085:193-195

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_40
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http://dx.doi.org/10.1007/978-3-319-95046-4_40DOI Listing
July 2019

Extracellular Matrix: Alport Syndrome.

Adv Exp Med Biol 2018;1085:197-198

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_41
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http://dx.doi.org/10.1007/978-3-319-95046-4_41DOI Listing
July 2019

Von Hippel-Lindau Disease.

Adv Exp Med Biol 2018;1085:201-203

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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July 2019

Tuberous Sclerosis.

Adv Exp Med Biol 2018;1085:205-207

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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July 2019

Neurofibromatosis.

Adv Exp Med Biol 2018;1085:209-211

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_44
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July 2019

Rubella Retinopathy.

Adv Exp Med Biol 2018;1085:215-217

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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July 2019

Syphilis.

Adv Exp Med Biol 2018;1085:219-221

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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July 2019

Autoimmune Retinopathy.

Adv Exp Med Biol 2018;1085:223-226

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_47
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July 2019

Drug-Induced Retinal Toxicity.

Adv Exp Med Biol 2018;1085:227-232

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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http://link.springer.com/10.1007/978-3-319-95046-4_48
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July 2019

Acute Zonal Occult Outer Retinopathy (AZOOR) and Related Diseases.

Adv Exp Med Biol 2018;1085:233-237

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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July 2019

Diffuse Unilateral Subacute Neuroretinitis (DUSN).

Adv Exp Med Biol 2018;1085:239-241

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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July 2019

A Practical Approach to Retinal Dystrophies.

Adv Exp Med Biol 2018;1085:245-259

Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

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July 2019

Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding.

Adv Exp Med Biol 2018;1085:261-268

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

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July 2019

HMGB1 and Caveolin-1 related to RPE cell senescence in age-related macular degeneration.

Aging (Albany NY) 2019 07;11(13):4323-4337

Tianjin Key Laboratory of Retinal Functions and Diseases, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, Tianjin, People's Republic of China.

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http://dx.doi.org/10.18632/aging.102039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660032PMC
July 2019

Therapeutic Window for Phosphodiesterase 6-Related Retinitis Pigmentosa.

JAMA Ophthalmol 2019 06;137(6):679-680

Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology and Pathology and Cell Biology, Columbia Stem Cell Initiative, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York.

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http://dx.doi.org/10.1001/jamaophthalmol.2018.6381DOI Listing
June 2019

Multimodal Imaging in Best Vitelliform Macular Dystrophy.

Invest Ophthalmol Vis Sci 2019 05;60(6):2012-2022

Department of Ophthalmology, Harkness Eye Institute, Columbia University, New York, New York, United States.

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http://dx.doi.org/10.1167/iovs.19-26571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735800PMC
May 2019

Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.

Sci Rep 2019 May 20;9(1):7608. Epub 2019 May 20.

Omics Laboratory, Stanford University, Palo Alto, CA, USA.

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http://dx.doi.org/10.1038/s41598-019-44031-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6527583PMC
May 2019

Multi-platform imaging in ABCA4-Associated Disease.

Sci Rep 2019 04 23;9(1):6436. Epub 2019 Apr 23.

Department of Ophthalmology, Columbia University, New York, New York, United States.

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http://dx.doi.org/10.1038/s41598-019-42772-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478712PMC
April 2019

SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.

Am J Med Genet A 2019 02 18;179(2):312-316. Epub 2018 Dec 18.

Department of Ophthalmology, New York-Presbyterian Hospital, New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.61001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349500PMC
February 2019

Attenuation of Inherited and Acquired Retinal Degeneration Progression with Gene-based Techniques.

Mol Diagn Ther 2019 02;23(1):113-120

Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, New York, USA.

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http://link.springer.com/10.1007/s40291-018-0377-1
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380912PMC
February 2019

Adeno-Associated Viral Gene Therapy for Inherited Retinal Disease.

Pharm Res 2019 Jan 7;36(2):34. Epub 2019 Jan 7.

Department of Ophthalmology and of Pathology and Cell Biology, Columbia University, New York, New York, USA.

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http://link.springer.com/10.1007/s11095-018-2564-5
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6534121PMC
January 2019

Viral Delivery Systems for CRISPR.

Viruses 2019 01 4;11(1). Epub 2019 Jan 4.

Edward S. Harkness Eye Institute, New York-Presbyterian Hospital, New York, NY 10032, USA.

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http://www.mdpi.com/1999-4915/11/1/28
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http://dx.doi.org/10.3390/v11010028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356701PMC
January 2019

VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site.

Invest Ophthalmol Vis Sci 2019 01;60(1):282-293

Byers Eye Institute, Omics Laboratory, Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, United States.

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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.18-25624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735613PMC
January 2019

CRISPR Base Editing in Induced Pluripotent Stem Cells.

Methods Mol Biol 2019 ;2045:337-346

Department of Ophthalmology, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1007/7651_2019_243DOI Listing
January 2019

Revolution in Gene Medicine Therapy and Genome Surgery.

Genes (Basel) 2018 Nov 26;9(12). Epub 2018 Nov 26.

Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Columbia University, New York, NY, 10032, USA.

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http://www.mdpi.com/2073-4425/9/12/575
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http://dx.doi.org/10.3390/genes9120575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315778PMC
November 2018