MichaelBGorinMDPhD

PubMed

• Pediatric patients with von Hippel-Lindau and hemangioblastomas treated successfully with belzutifan.
  Emily Duan, Michael Robinson, Charles Davis, Sumit Pruthi, Christina Shin
  Pediatric Blood & Cancer. 2025-01-01
• Anti-retinal Autoantibodies in Hydroxychloroquine Eye Toxicity.
  Samuel D Good, Grazyna Adamus, Michael B Gorin, Jordan Jacquez, Jennifer Grossman
  ACR Open Rheumatology. 2024-11-07
• 2 citations
  Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
  Daniel C Brock, Meng Wang, Hafiz Muhammad Jafar Hussain, David E Rauch, Molly Marra
  Human Molecular Genetics. 2024-05-18

Journal Articles

• Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).  
  Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gori..., Hum Mol Genet
• Cognitive impairment in the Age-Related Eye Disease Study: AREDS report no. 16.  
  100. Clemons TE, Rankin MW, McBee WL; Age-Related Eye Disease Study Research Group, Arch Ophthalmol
• Centrum use and progression of age-related cataract in the Age-Related Eye Disease Study: a propensity score approach. AREDS report No. 21.  
  101. Milton RC, Sperduto RD, Clemons TE, Ferris FL 3rd; Age-Related Eye Disease Study Research Group, Ophthalmology
• The relationship of dietary lipid intake and age-related macular degeneration in a case-control study: AREDS Report No. 20.  
  SanGiovanni JP, Chew EY, Clemons TE, Davis MD, Ferris FL 3rd, Gensler GR, Kurinij N, Lindblad AS, Milton RC, Seddon JM, Sperduto RD; Age-Related Eye Disease Study Rese..., Arch Ophthalmol
• The relationship of dietary carotenoid and vitamin A, E, and C intake with age-related macular degeneration in a case-control study: AREDS Report No. 22.  
  Age-Related Eye Disease Study Research Group, SanGiovanni JP, Chew EY, Clemons TE, Ferris FL 3rd, Gensler G, Lindblad AS, Milton RC, Seddon JM, Sperduto RD, Arch Ophthalmol
• The relationship of dietary omega-3 long-chain polyunsaturated fatty acid intake with incident age-related macular degeneration: AREDS report no. 23.  
  SanGiovanni JP, Chew EY, Agrón E, Clemons TE, Ferris FL 3rd, Gensler G, Lindblad AS, Milton RC, Seddon JM, Klein R, Sperduto RD, Arch Ophthalmol
• Risk of advanced age-related macular degeneration after cataract surgery in the Age-Related Eye Disease Study: AREDS report 25.  
  Chew EY, Sperduto RD, Milton RC, Clemons TE, Gensler GR, Bressler SB, Klein R, Klein BE, Ferris FL 3rd, Ophthalmology
• Age-Related Eye Disease Study Research Group. Change in area of geographic atrophy in the Age-Related Eye Disease Study: AREDS report number 26.  
  Lindblad AS, Lloyd PC, Clemons TE, Gensler GR, Ferris FL 3rd, Klein ML, Armstrong JR, Arch Ophthalmol
• {omega}-3 Long-chain polyunsaturated fatty acid intake and 12-y incidence of neovascular age-related macular degeneration and central geographic atrophy: AREDS report 30.  
  Sangiovanni JP, Agrón E, Meleth AD, Reed GF, Sperduto RD, Clemons TE, Chew EY, Am J Clin Nutr
• Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation.  
  Reddy S, Gorin MB, McCannel TA, Tsui I, Straatsma BR, Graefes Arch Clin Exp Ophthalmol
• A simplified severity scale for age-related macular degeneration: AREDS Report No. 18.  
  Ferris FL, Davis MD, Clemons TE, Lee LY, Chew EY, Lindblad AS, Milton RC, Bressler SB, Klein R; Age-Related Eye Disease Study (AREDS) Research Group, Arch Ophthalmol
• Intrinsically photosensitive retinal ganglion cells are the primary but not exclusive circuit for light aversion.  
  Matynia A, Parikh, S, Chen B, McNeill DS, Nusinowitz S, Evans C, Gorin MB, Investigative Ophthalmology & Visual Science (IOVS)
• Comparative regional pupillography as a noninvasive biosensor screening method for diabetic retinopathy.  
  Ortube MC, Kiderman A, Eydelman Y, Yu F, Aguilar N, Nusinowitz S, Gorin MB, Submitted to Investigative Ophthalmology & Visual Science (IOVS)
• Molecular Diagnosis of Putative Stargardt Disease Probands by Exome Sequencing.  
  Strom SP, Gao Y-Q, Martìnez A, Ortube MC, Chen Z, Nelson SF, Nusinowitz S, Farber DB, Gorin MB, Submitted to BMC Medical Genetics
• Legal and ethical issues in ophthalmic genetics.  
  Parker L and Gorin MB, Seminars in Ophthalmology
• Interrelationship of genetics and ophthalmic surgery.  
  Gorin MB, Seminars in Ophthalmol
• Genetics offers a new vision of age-related macular degeneration.  
  Gorin, M.B, European Journal of Human Genetics
• Psychological impact of participating in genetic studies of two XL eye conditions.  
  Mah TS, MacLaren SL, Shaffer-Gordon M, Brown J, Kimura AE, Day RD, MacDonald I, and Gorin MB, American Journal of Human Genetics
• Linkage analysis of COD-1 to XP11.3-11.4: Establishment of a locus distinct from RP2 and RP3.  
  Seymour AB, Dash-Modi A, Shaffer-Gordon M, Mah TS, O'Connell JR, Stefko T, Brown J, Kimura AE, Ferrell RE, and Gorin MB, American Journal of Human Genetics
• The Age-Related Eye Disease Study system for classifying age-related macular degeneration from stereoscopic color fundus photographs: the Age-Related Eye Disease Study...  
  Gorin MB, American Journal of Ophthalmology
• Anonymous. The age-related eye disease study: a clinical trial of zinc and antioxidants-age-related eye disease study report no. 2.  
  Gorin MB, Journal of Nutrition
• Anonymous. Risk factors associated with age-related macular degeneration.  
  Gorin MB, Ophthalmology
• A clinician's view of the molecular genetics of age-related maculopathy.  
  Gorin MB, Arch Ophthalmol
• Age-Related Eye Disease Study Research Group. The Age-Related Eye Disease Study (AREDS): design implications. AREDS report no. 1.  
  Gorin MB, Control Clin Trials
• Age-Related Eye Disease Study Research Group. The age-related eye disease study (AREDS) system for classifying cataracts from photographs: AREDS report no. 4.  
  Gorin MB, Am J Ophthalmol
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Books/Book Chapters

• Detection of the Carrier State of X-Linked retinoschisis in Principles and Practice of Clinical Electrophysiology of Vision. 
  Gorin MB, and Arden GBEditors: J.R. Heckenlively and G. Arden.Mosby Year Book, St. Louis, MO
• The genetics of age-related maculopathy. 
  Chapter: Retinal Degeneration: Clinical and Laboratory Applications 
  Gorin MB, Sarneso C, Paul TO, Ngo J, and Weeks DEEditors: J.G. Hollyfield, R.E. Anderson, M.M. LaVail.Plenum Publishing Co
• Introduction to Molecular Genetics. Molecular (eds: J. Evan) Molecular Genetics of Inherited Eye Disorders -Modern Genetics Series. 
  Gorin MB, and Wright AHarwood Academic Publishers
• Genetics of Age-related Maculopathy. 
  Chapter: Textbook of Genetic Diseases of the Eye 
  Gorin MBEditors: E.Trabousli.
• Genetics of Age-related Macular Degeneration, in Age-Related Macular Degeneration. 
  Rosenfeld P and Gorin MBEditors: Berger JEW, Fine SL and Macguire MG.Mosby Inc
• Secondary Photoreceptor Degenerations. 
  Chapter: Encyclopedia of the Eye 
  Page 199 - 203Gorin MBEditors: Darlene A. Dartt.Oxford: Academic Press
• Genetics of Age-related Maculopathy. 
  Chapter: Textbook of Genetic Diseases of the Eye 
  Fafowora, O. and Gorin MBEditors: E.Trabousli.
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Abstracts/Posters

• Mutation Screening of RPGR in Male Patients with X-Linked or Isolated Forms of Retinitis Pigmentosa or Cone-Rod Dystrophy.
  Demirci FY, Radak AL, Rigatti BW, Traboulsi EI, Alitalo T, Mah TS, Gorin MB, Invest Ophthalmol Vis Sci (Suppl)
• Replication of association of CFH, PLEKHA1/LOC387715 and ELOVL4 genes with ARM in the AREDS cohort.
  Gorin MB, Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Investigative Ophthalmology & Visual Science
• Susceptibility genes for age related maculopathy (ARM) on chromosome 10q26.
  Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB, The American Journal of Human Genetics (Suppl)
• Human and mouse retinal alternative RNA splicing of a set of genes that are implicated in retinal degenerations.
  Demirci FY, Rigatti BW, Gorin MB, The American Journal of Human Genetics (Suppl)
• A novel missense mutation in the Sodium Bicarbonate Cotransporter (NBCe1/SLC4A4) in a patient with proximal renal tubular acidosis and ocular pathology.
  Gorin MB, Demirci FY, Chang M-H, Mah TS, Romero MF, The American Journal of Human Genetics (Suppl)
• No evidence of interaction between chromosomes 1q31 and 10q26 in age-related maculopathy (ARM).
  Conley YP, Jakobsdottir J, Weeks DE, Mah TS, Ferrell RE, Gorin MB, The American Journal of Human Genetics (Suppl)
• Refinement of the Cerulean Cataract Type 1 Locus on 17q25.3 to a 0.5 Mb Critical Region.
  Gorin MB, Rigatti BW, Demirci FY, Clarke SR, Mah TS, Weeks DE, Ferrell RE, The American Journal of Human Genetics (Suppl)
• Positional Candidate Gene Evaluation for Age-Related Maculopathy.
  Conley YP, Weeks DE, Thalamuthu A, Mah TS, Ferrell RE, Gorin MB, The American Journal of Human Genetics (Suppl)
• Tamoxifen and retinal vaso-occlusive disease.
  Kulacoglu DN, Costantino J, Demirci FY, Wickerham DL, Fisher B, Wolmark N, and Gorin MB, Investigative Ophthalmology & Visual Science
• A predicted missense mutation of RPGR causes aberrant RNA splicing with exon skipping.
  Demirci FY, Radak AL, Rigatti BW, Mah TS, and Gorin MB, Investigative Ophthalmology & Visual Science
• Using genomic convergence to identify susceptibility genes for age-related macular degeneration (AMD).
  Schmidt S, Postel EA, Agarwal A, Gilbert JR, Gorin MB, Bowes Rickman C, Haines JL, Pericak-Vance MA, The American Journal of Human Genetics (Suppl)
• A Novel Compound Heterozygous Mutation in the Cellular Retinaldehyde-Binding Protein Gene (RLBP1) in a Patient With Retinitis Punctata Albescens.
  Demirci FY, Rigatti BW, Mah TS, Gorin MB, The American Journal of Human Genetics (Suppl)
• Association of the ELOVL4 Gene With Age-Related Maculopathy.
  Conley YP, Weeks DE, Thalamuthu A, Mah TS, Ferrell RE, Gorin MB, Investigative Ophthalmology & Visual Science
• Refinement and Candidate Gene Screening of the Cerulean Cataract Type 1 Locus on 17q24-q25.
  Gorin MB, Rigatti BW, Demirci FY, Clarke SR, Mah TS, Radak AL, Weeks DE, Ferrell RE, Invest Ophthalmol Vis Sci (Suppl)
• Clinical Correlation for Two Novel Mutations in the RPGR gene for X-linked Retinitis Pigmentosa.
  Chung DC, Demirci YK, Zegarra H, Locastro AJ, Gorin MB, Traboulsi EI, Invest Ophthalmol Vis Sci (Suppl)
• Genomic Screen and Follow-up Analysis on AMD Multiplex Families.
  Schmidt S, Scott WK, Postel EA, Agarwal A, De La Paz M, Gilbert JR, Weeks DE, Haines JL, Gorin MB, Pericak-Vance MA, Invest Ophthalmol Vis Sci (Suppl)
• Mutation Screening of RPGR in Male Patients with X-linked or Sporadic Forms of Retinitis Pigmentosa or Cone-Rod Dystrophy.
  Radak AL, Demirci FY, Rigatti BW, Traboulsi EI, Alitalo A, Mah TS, Gorin MB, The American Journal of Human Genetics (Suppl)
• X-linked macular degeneration associated with a RPGR nonsense mutation causing premature termination.
  Sieving PA, Demirci YK, Liu J, Bingham EL, Stringham H, Kakuk LE, Boehnke M, Gorin MB, Richards J, Ayyagari R, Invest Ophthalmol Vis Sci (Suppl)
• Histopathology of a retina with X-linked cone-rod dystrophy caused by a mutation in the RPGR exon ORF15.
  Demirci FY, Radak AL, Rigatti BW, Mah TS, Gorin MB, Milam AH, Invest Ophthalmol Vis Sci (Suppl)
• Pericak-Vance MA for the APOE-AMD Consortium. Association of the Apolipoprotein E (APOE) Gene with Age-Related Macular Degeneration (AMD): A pooled case-control study.
  Schmidt SA, Gorin MB, Klaver CCW, Small KW, Haines JL, Postel EA, Saunders AM, van Duijn CM, Weeks DE, Ferrell R, Agarwal A, The American Journal of Human Genetics (Suppl)
• Age-related maculopathy (ARM): An expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions.
  Gorin MB, Weeks DE, Conley YP, Tsai H-J, Mah TS, Rosenfeld PJ, Paul TO, Eller AW, Morse LS, Dailey JP, Ferrell RE, The American Journal of Human Genetics (Suppl)
• Fine mapping of the Cerulean Cataract Type 1 gene locus on 17q24-q25.
  Rigatti BW, Demirci FY, Ferrell RE, Gorin MB, The American Journal of Human Genetics (Suppl)
• A Complete Gene Catalogue of Human Xp11.4 harboring Disease Loci for Diabetes Mellitus Type I, Mental Retardation and Retinal Disturbances.
  Ramser J, Wen G, Demirci Y, Martinez-Garay I, Engert S, Pusch C, Badenhoop K, Gorin M, Platzer M, Meindl A, The American Journal of Human Genetics (Suppl)
• Concentric Retinitis Pigmentosa (RP): Clinicopathologic Correlations.
  Milam AH, de Castro EB, Smith JE, John SK, Stone EM, Gorin MB, Aguirre GD, Jacobson SG, Invest Ophthalmol Vis Sci (Suppl)
• Further Explorations in the Genetics of Age-related Maculopathy (ARM).
  Weeks DE, Jakobsdottir J, Conley YP, Ferrell RE, Gorin MB, Am Soc. Human Genetics
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Lectures

• Treatment of Exudative Retinopathies. 
  University of Michigan annual meeting (Ophthalmology CME course)
• Cognitive Decline and Age-related Maculopathy- Evidence for an association. 
  ARVO –invited lecture
• Update on the Genetics of Age-related Maculopathy. 
  Clinical and Research Seminar JSEI
• Translation of molecular genetic ophthalmic discoveries into personalized clinical care. 
  Klinikum der Universität Regensburg
• Update on the genetics of age-related maculopathy (ARM). 
  Southern California College of Optometry
• Molecular Genetics of Age-related Maculopathy. 
  13th Annual Vision Science Conference - JSEI
• Practical Retina for the Cataract and Refractive Surgeon. 
  The Research Study Club of Los Angeles
• Ocular Issues with von Hippel Lindau Disease. 
  VHL Family Alliance – Beverly Hills
• What’s New in Retina: Diagnosis and Treatment. 
  University of Michigan annual meeting (Ophthalmology CME course)
• Update on Molecular Genetics for the Clinician. 
  Eleventh Annual Ocular Drug & Surgical Therapy Update Meeting
• Macular Degeneration, Genes and Implications. 
  University of Michigan annual meeting (Ophthalmology CME course)
• Update on Anti-oxidant Vitamin Treatments. 
  University of Michigan annual meeting (Ophthalmology CME course)
• The potential role and limitations of personalized medicine in clinical ophthalmic practice. 
  Pacific Coast Oto-Ophthalmological Society
• Translating the Molecular Genetics of Age-related Maculopathy into Clinical Practice. 
  Cole Eye Center visiting professor
• Biological Basis of Light-Associated Allodynia (Photophobia). 
  National meeting on mTBI – Smith Kettlewell Eye Research Institute
• A Clinical Approach. 
  Genentech EyeQ program- Genetics 101
• Ethical Issues in Predictive Genetic Testing for Mendelian and Complex Retinal Disorders. 
  special symposium at ARVO
• AMD: Research-Future Therapy for Saving Sight Genetics in RP. 
  Orange County Vision Symposium
• public lecture on AMD research. 
  Pittsburgh Vision Services and Carnegie Library of Pittsburgh
• Results of Study on Ophthalmic Manifestations of the Chernobyl Accident in Children. 
  United Nations International Symposium on Visual Disabilities in Children, New York
• Genetic Linkage Studies in Macular Degeneration. 
  Special Interest Group Meeting at ARVO, ARVO, Fort Lauderdale, Florida
• Diabetes in the 90's: Whats’s New? 
  Diabetes Retinopathy, University of Pittsburgh, Biomedical Science Tower, Pittsburgh, PA
• Epidemiology of Aging (EPIDEM 2900) 
  University of Pittsburgh, Spring Term, Eye Disease in Older Adults, 1999, 1998
• Annual Residents and Fellows Research Day. 
  Jules Stein Eye Institute, UCLA
• The Caygill lecture. 
  University of California - San Francisco, Dept of Ophthalmology
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Other

• Method of Crosslinking Amino Acid Containing Polymers 
  Anthony B. Nesburn, Michael B. Gorin, Marvin Martinez, M. Christina Kennedy, Ezra Maguen, US Patent Number: 5,294,314
• Genetic insights into age-related macular degeneration: Controversies addressing risk, causality, and therapeutics. 
  Gorin MB, [Epub ahead of print] PMID: 22561651