Skip to Main Content

Author Details

Michael B Gorin
Jules Stein Eye Institute
1979
167
47
PMIDPaper TitleJournal TitlePublished Year
36811936Systematic assessment of the contribution of structural variants to inherited retinal diseases.Hum Mol Genet2023
35750324Measurement of the Inner Macular Layers for Monitoring of Glaucoma: Confounding Effects of Age-Related Macular Degeneration.Ophthalmol Glaucoma2023
36789417Systematic assessment of the contribution of structural variants to inherited retinal diseases.bioRxiv2023
31842044OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FINDINGS AND VISUAL PROGNOSIS IN TWO PATIENTS WITH POSTERIOR MICROPHTHALMOS.Retin Cases Brief Rep2022
35348597Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients.Transl Vis Sci Technol2022
35851598Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.Brain2022
36108770Systems genomics in age-related macular degeneration.Exp Eye Res2022
36359858Membrane Attack Complex Mediates Retinal Pigment Epithelium Cell Death in Stargardt Macular Degeneration.Cells2022
29470301A CASE OF INTRARETINAL PERIPAPILLARY NEOVASCULARIZATION IN ABCA4-RELATED RETINOPATHY.Retin Cases Brief Rep2021
36246004Using Molecular Diagnostics for Inherited Retinal Dystrophies: The 6 "I"s That Are Necessary to Diagnose 2 Eyes Genetically.Ophthalmol Sci2021
34752301Genotype-Phenotype Analysis of Atrophic Age-Related Macular Degeneration: What Does It Mean When You Don't Find What You Were Expecting?Ophthalmol Retina2021
34223797Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.Ophthalmic Genet2021
34185059Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.Invest Ophthalmol Vis Sci2021
34321704Gene-Based Association Testing of Dichotomous Traits With Generalized Functional Linear Mixed Models Using Extended Pedigrees: Applications to Age-Related Macular Degeneration.J Am Stat Assoc2021
34038502Assessing the Clinical Utility of Expanded Macular OCTs Using Machine Learning.Transl Vis Sci Technol2021
32386558Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.Am J Hum Genet2020
31862397Predictive genetics for AMD: Hype and hopes for genetics-based strategies for treatment and prevention.Exp Eye Res2020
32594822Novel mutation in <i>SLC4A7</i> gene causing autosomal recessive progressive rod-cone dystrophy.Ophthalmic Genet2020
32307445Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.Genet Med2020
30297337Macular spatial distribution of preserved autofluorescence in patients with choroideremia.Br J Ophthalmol2019
31647904Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish.Exp Eye Res2019
31794599Evaluation of the Choroid in Eyes With Retinitis Pigmentosa and Cystoid Macular Edema.Invest Ophthalmol Vis Sci2019
31350409A systems biology approach towards understanding and treating non-neovascular age-related macular degeneration.Nat Commun2019
31580392Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.JAMA Ophthalmol2019
31259811MANAGEMENT OF RETINAL HEMANGIOBLASTOMA IN VON HIPPEL-LINDAU DISEASE.Retina2019
31095066VON HIPPEL-LINDAU DISEASE: Update on Pathogenesis and Systemic Aspects.Retina2019
31120487When Genetics Can Point Researchers and Clinicians in New Directions.JAMA Ophthalmol2019
30746134Three patients with injection of intravitreal vascular endothelial growth factor inhibitors and subsequent exacerbation of chronic proteinuria and hypertension.Clin Kidney J2019
28914568Human Embryonic Stem Cell-Derived Mesenchymal Stromal Cells Decrease the Development of Severe Experimental Autoimmune Uveitis in B10.RIII Mice.Ocul Immunol Inflamm2018
31047384Ultra-Widefield Fundus Autofluorescence Imaging of Patients with Retinitis Pigmentosa: A Standardized Grading System in Different Genotypes.Ophthalmol Retina2018
29135322Retinal Structure in Pre-Clinical Age-Related Macular Degeneration.Curr Eye Res2018
28051075Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.Eur J Hum Genet2017
28198095Genetic risk models: Influence of model size on risk estimates and precision.Genet Epidemiol2017
28499705Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia.Am J Ophthalmol2017
29057371Dysflective cones: Visual function and cone reflectivity in long-term follow-up of acute bilateral foveolitis.Am J Ophthalmol Case Rep2017
26691988A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.Nat Genet2016
26562176Assessing Deep Retinal Capillary Ischemia in Paracentral Acute Middle Maculopathy by Optical Coherence Tomography Angiography.Am J Ophthalmol2016
28060316An Alternative and Validated Injection Method for Accessing the Subretinal Space via a Transcleral Posterior Approach.J Vis Exp2016
27559310Peripheral Sensory Neurons Expressing Melanopsin Respond to Light.Front Neural Circuits2016
26964041De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.PLoS One2016
25019185Gender specific issues in hereditary ocular disorders.Curr Eye Res2015
26328603Mitochondrial DNA Heteroplasmy Associations With Neurosensory and Mobility Function in Elderly Adults.J Gerontol A Biol Sci Med Sci2015
26076732Genetic ME-a visualization application for merging and editing pedigrees for genetic studies.BMC Res Notes2015
26070985Light aversion and corneal mechanical sensitivity are altered by intrinscally photosensitive retinal ganglion cells in a mouse model of corneal surface damage.Exp Eye Res2015
25887129dbVOR: a database system for importing pedigree, phenotype and genotype data and exporting selected subsets.BMC Bioinformatics2015
25665771HLA class II genotypes are not associated with age related macular degeneration in a case-control, population-based study.Hum Immunol2015
24444108Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.BMC Med Genet2014
25568804Endophenotypes for Age-Related Macular Degeneration: Extending Our Reach into the Preclinical Stages of Disease.J Clin Med2014
25372533Significant macular edema in a patient with cone dystrophy and improvement with acetazolamide treatment.Retin Cases Brief Rep2014
25082829Analysis of the ABCA4 genomic locus in Stargardt disease.Hum Mol Genet2014
  • 1 - 50 of 167

Recommended Authors

Nikolas Pontikos
Moorfields Eye Hospital, UK UCL Institute of Ophthalmology, University College London
Career Start Year 2014
Number of shared co-authors 18
S Scott Whitmore
Institute for Vision Research, Carver College of Medicine, University of Iowa
Career Start Year 2012
Number of shared co-authors 5
Alasdair Warwick
NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust
Career Start Year 2011
Number of shared co-authors 7
Panagiotis I Sergouniotis
University of Manchester
Career Start Year 2009
Number of shared co-authors 14
Adam P DeLuca
Institute for Vision Research, Carver College of Medicine, University of Iowa
Career Start Year 2008
Number of shared co-authors 13
Yutao Liu
Augusta University
Career Start Year 2007
Number of shared co-authors 28
Shyamanga Borooah
Shiley Eye Institute, University of California
Career Start Year 2007
Number of shared co-authors 10
Jennifer R Chao
University of Washington
Career Start Year 2006
Number of shared co-authors 4
Hoai Viet Tran
University Eye Hospital Jules Gonin
Career Start Year 2002
Number of shared co-authors 7
Katarina Stingl
University Eye Hospital, University of Tubingen
Career Start Year 2002
Number of shared co-authors 15
Eleonora M Lad
Duke University Medical Center
Career Start Year 2002
Number of shared co-authors 17
Gavin Arno
Institute of Ophthalmology, University College London
Career Start Year 2001
Number of shared co-authors 19
Peter Charbel Issa
Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust
Career Start Year 2000
Number of shared co-authors 20
Jeaneen L Andorf
Institute for Vision Research, Carver College of Medicine, University of Iowa
Career Start Year 2000
Number of shared co-authors 17
Louise Downey
Hull and East Yorkshire Hospital, Hull and East Yorkshire NHS Trust
Career Start Year 2000
Number of shared co-authors 15
Nicolas Leveziel
Universite de Poitiers, INSERM 4 Department of Ophthalmology
Career Start Year 2000
Number of shared co-authors 38
Catherine A Cukras
Unit on Clinical Investigation of Retinal Disease, National Eye Institute
Career Start Year 2000
Number of shared co-authors 18
Terry A Braun
University of Iowa
Career Start Year 1999
Number of shared co-authors 17
Andrew C Browning
Royal Victoria Infirmary
Career Start Year 1999
Number of shared co-authors 7
Fred K Chen
Royal Perth Hospital
Career Start Year 1997
Number of shared co-authors 14
Carlo Rivolta
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Career Start Year 1997
Number of shared co-authors 31
Martin McKibbin
Leeds Teaching Hospitals NHS Trust
Career Start Year 1995
Number of shared co-authors 24
Kathleen M Scott
University of Michigan ann arbor
Career Start Year 1995
Number of shared co-authors 8
H??l??ne Dollfus
Institut de Genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg
Career Start Year 1992
Number of shared co-authors 16
Rajendra Kumar-Singh
University of California San Diego
Career Start Year 1991
Number of shared co-authors 1
Artur V Cideciyan
Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania
Career Start Year 1990
Number of shared co-authors 26
Arlene V Drack
University of Iowa Carver College of Medicine
Career Start Year 1984
Number of shared co-authors 15
Russell N Van Gelder
University of Washington School of Medicine
Career Start Year 1983
Number of shared co-authors 5
Samantha Malka
UCL Institute of Ophthalmology
Career Start Year 1974
Number of shared co-authors 4
Richard G Weleber
Casey Eye Institute, Oregon Health & Science University
Career Start Year 1967
Number of shared co-authors 30

Collaborators

Daniel E Weeks
Co-authored papers 28
Robert E Ferrell
Co-authored papers 16
Jonathan L Haines
Cleveland Institute for Computational Biology, Case Western Reserve University
Co-authored papers 12
Margaret A Pericak-Vance
Co-authored papers 10
Caroline C W Klaver
Erasmus Medical Center
Co-authored papers 10
Anand Swaroop
National Eye Institute, National Institutes of Health
Co-authored papers 9
Gon??alo R Abecasis
Regeneron Pharmaceuticals Inc.
Co-authored papers 9
Johanna Jakobsdottir
Co-authored papers 8
Emily Y Chew
National Eye Institute, National Institutes of Health
Co-authored papers 8
Ronald Klein
University of Wisconsin School of Medicine and Public Health
Co-authored papers 8
Michael L Klein
Casey Eye Institute, Oregon Health & Science University
Co-authored papers 8
Andrew R Webster
Institute of Ophthalmology, University College London
Co-authored papers 8
Mark E Pennesi
Casey Eye Institute at Oregon Health & Science University (OHSU)
Co-authored papers 6
Anthony T Moore
UCL Institute of Ophthalmology, University College London
Co-authored papers 6
Peter L Choyke
National Cancer Institute, National Institutes of Health
Co-authored papers 6
Kang Zhang
College of Animal Science and Technology, Guangxi University
Co-authored papers 6
John R Yates
TheScripps Research Institute
Co-authored papers 6
Lindsay A Farrer
Boston University Chobanian & Avedisian School of Medicine
Co-authored papers 6
Johanna M Seddon
University of Massachusetts Chan Medical School
Co-authored papers 6
Valentina Cipriani
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 6
Andrew J Lotery
University of Southampton
Co-authored papers 6
Paul N Baird
The University of Melbourne
Co-authored papers 5
William K Scott
John P. Hussman Institute for Human Genomics.
Co-authored papers 5
Rando Allikmets
Columbia University Medical Center
Co-authored papers 5
Samuel G Jacobson
Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania
Co-authored papers 5
Lars G Fritsche
Co-authored papers 5
SriniVas R Sadda
Doheny Eye Institute, University of California Los Angeles
Co-authored papers 5
Robyn H Guymer
Royal Victorian Eye and Ear Hospital, the University of Melbourne
Co-authored papers 5
Sudha K Iyengar
Co-authored papers 5
Felix Grassmann
Karolinska Institutet
Co-authored papers 4
Release 1.2