Publications

1. Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavac D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Oldak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.. Biomolecules, 2024.
2. Brock DC, Wang M, Hussain HMJ, Rauch DE, Marra M, Pennesi ME, Yang P, Everett L, Ajlan RS, Colbert J, Porto FBO, Matynia A, Gorin MB, Koenekoop RK, Lopez I, Sui R, Zou G, Li Y, Chen R. Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.. Human molecular genetics, 2024.
3. Daniels AB, Chang EY, Chew EY, Gombos DS, Gorin MB, Shields CL, Wiley HE. Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease.. Ophthalmology, 2023.
4. Wen S, Wang M, Qian X, Li Y, Wang K, Choi J, Pennesi ME, Yang P, Marra M, Koenekoop RK, Lopez I, Matynia A, Gorin M, Sui R, Yao F, Goetz K, Porto FBO, Chen R. Systematic assessment of the contribution of structural variants to inherited retinal diseases.. Human molecular genetics, 2023.
5. Wen S, Wang M, Qian X, Li Y, Wang K, Choi J, Pennesi ME, Yang P, Marra M, Koenekoop RK, Lopez I, Matynia A, Gorin M, Sui R, Yao F, Goetz K, Porto FBO, Chen R. Systematic assessment of the contribution of structural variants to inherited retinal diseases.. bioRxiv : the preprint server for biology, 2023.
6. Ng ESY, Kady N, Hu J, Dave A, Jiang Z, Pei J, Gorin MB, Matynia A, Radu RA. Membrane Attack Complex Mediates Retinal Pigment Epithelium Cell Death in Stargardt Macular Degeneration.. Cells, 2022.
7. Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.. Brain : a journal of neurology, 2022.
8. den Hollander AI, Mullins RF, Orozco LD, Voigt AP, Chen HH, Strunz T, Grassmann F, Haines JL, Kuiper JJW, Tumminia SJ, Allikmets R, Hageman GS, Stambolian D, Klaver CCW, Boeke JD, Chen H, Honigberg L, Katti S, Frazer KA, Weber BHF, Gorin MB. Systems genomics in age-related macular degeneration.. Experimental eye research, 2022.
9. Chew L, Mohammadzadeh V, Mohammadi M, Toriz V, Rosa N, Gorin MB, Amini N, Nouri-Mahdavi K. Measurement of the Inner Macular Layers for Monitoring of Glaucoma: Confounding Effects of Age-Related Macular Degeneration.. Ophthalmology. Glaucoma, 2022.
10. Matynia A, Wang J, Kim S, Li Y, Dimashkie A, Jiang Z, Hu J, Strom SP, Radu RA, Chen R, Gorin MB. Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients.. Translational vision science & technology, 2022.
11. Pineles SL, Davila-Gonzalez JP, Gorin M, Lee H, Sarraf D, Velez FG. OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FINDINGS AND VISUAL PROGNOSIS IN TWO PATIENTS WITH POSTERIOR MICROPHTHALMOS.. Retinal cases & brief reports, 2022.
12. Gorin M. Genotype-Phenotype Analysis of Atrophic Age-Related Macular Degeneration: What Does It Mean When You Don't Find What You Were Expecting?. Ophthalmology. Retina, 2021.
13. Igelman AD, Ku C, da Palma MM, Georgiou M, Schiff ER, Lam BL, Sankila EM, Ahn J, Pyers L, Vincent A, Ferraz Sallum JM, Zein WM, Oh JK, Maldonado RS, Ryu J, Tsang SH, Gorin MB, Webster AR, Michaelides M, Yang P, Pennesi ME. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.. Ophthalmic genetics, 2021.
14. da Palma MM, Igelman AD, Ku C, Burr A, You JY, Place EM, Wang NK, Oh JK, Branham KE, Zhang X, Ahn J, Gorin MB, Lam BL, Ronquillo CC, Bernstein PS, Nagiel A, Huckfeldt R, Cabrera MT, Kelly JP, Bakall B, Iannaccone A, Hufnagel RB, Zein WM, Koenekoop RK, Birch DG, Yang P, Fahim AT, Pennesi ME. Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.. Investigative ophthalmology & visual science, 2021.
15. Lin AC, Lee CS, Blazes M, Lee AY, Gorin MB. Assessing the Clinical Utility of Expanded Macular OCTs Using Machine Learning.. Translational vision science & technology, 2021.
16. Gorin MB, Ahn J. Using Molecular Diagnostics for Inherited Retinal Dystrophies: The 6 "I"s That Are Necessary to Diagnose 2 Eyes Genetically.. Ophthalmology science, 2021.
17. Essilfie JO, Huynh A, Gorin MB, Sadda SR. A CASE OF INTRARETINAL PERIPAPILLARY NEOVASCULARIZATION IN ABCA4-RELATED RETINOPATHY.. Retinal cases & brief reports, 2021.
18. Jiang Y, Chiu CY, Yan Q, Chen W, Gorin MB, Conley YP, Lakhal-Chaieb ML, Cook RJ, Amos CI, Wilson AF, Bailey-Wilson JE, McMahon FJ, Vazquez AI, Yuan A, Zhong X, Xiong M, Weeks DE, Fan R. Gene-Based Association Testing of Dichotomous Traits With Generalized Functional Linear Mixed Models Using Extended Pedigrees: Applications to Age-Related Macular Degeneration.. Journal of the American Statistical Association, 2020.
19. Mena E, Black PC, Rais-Bahrami S, Gorin M, Allaf M, Choyke P. Novel PET imaging methods for prostate cancer.. World journal of urology, 2020.
20. Ahn J, Chiang J, Gorin MB. Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy.. Ophthalmic genetics, 2020.
21. Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ, 99 Lives Consortium, Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B. Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.. American journal of human genetics, 2020.
22. Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavac D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.. Genetics in medicine : official journal of the American College of Medical Genetics, 2020.
23. Gorin MB, daSilva MJ. Predictive genetics for AMD: Hype and hopes for genetics-based strategies for treatment and prevention.. Experimental eye research, 2019.
24. Iovino C, Au A, Hilely A, Violanti S, Peiretti E, Gorin MB, Sarraf D. Evaluation of the Choroid in Eyes With Retinitis Pigmentosa and Cystoid Macular Edema.. Investigative ophthalmology & visual science, 2019.
25. Wiley HE, Krivosic V, Gaudric A, Gorin MB, Shields C, Shields J, Aronow ME, Chew EY. MANAGEMENT OF RETINAL HEMANGIOBLASTOMA IN VON HIPPEL-LINDAU DISEASE.. Retina (Philadelphia, Pa.), 2019.
26. Yang U, Gentleman S, Gai X, Gorin MB, Borchert MS, Lee TC, Villanueva A, Koenekoop R, Maguire AM, Bennett J, Redmond TM, Nagiel A. Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.. JAMA ophthalmology, 2019.
27. Aronow ME, Wiley HE, Gaudric A, Krivosic V, Gorin MB, Shields CL, Shields JA, Jonasch EW, Singh AD, Chew EY. VON HIPPEL-LINDAU DISEASE: Update on Pathogenesis and Systemic Aspects.. Retina (Philadelphia, Pa.), 2019.
28. Toms M, Dubis AM, Lim WS, Webster AR, Gorin MB, Moosajee M. Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish.. Experimental eye research, 2019.
29. Gorin MB. When Genetics Can Point Researchers and Clinicians in New Directions.. JAMA ophthalmology, 2019.
30. Handa JT, Bowes Rickman C, Dick AD, Gorin MB, Miller JW, Toth CA, Ueffing M, Zarbin M, Farrer LA. A systems biology approach towards understanding and treating non-neovascular age-related macular degeneration.. Nature communications, 2019.
31. Hariri AH, Ip MS, Girach A, Lam BL, Fischer MD, Sankila EM, Pennesi ME, Holz FG, Maclaren RE, Birch DG, Hoyng CB, MacDonald IM, Black GC, Tsang SH, Bressler NM, Stepien KE, Larsen M, Gorin MB, Meunier I, Webster AR, Sadda S, For Natural History of the Progression of Choroideremia (NIGHT) Study Group. Macular spatial distribution of preserved autofluorescence in patients with choroideremia.. The British journal of ophthalmology, 2018.
32. Hanna RM, Lopez EA, Hasnain H, Selamet U, Wilson J, Youssef PN, Akladeous N, Bunnapradist S, Gorin MB. Three patients with injection of intravitreal vascular endothelial growth factor inhibitors and subsequent exacerbation of chronic proteinuria and hypertension.. Clinical kidney journal, 2018.
33. Hariri AH, Gui W, Datoo O'Keefe GA, Ip MS, Sadda SR, Gorin MB. Ultra-Widefield Fundus Autofluorescence Imaging of Patients with Retinitis Pigmentosa: A Standardized Grading System in Different Genotypes.. Ophthalmology. Retina, 2017.
34. Qin Y, Chan AM, Chang YL, Matynia A, Kouris NA, Kimbrel EA, Ashki N, Parikh S, Gorin MB, Lanza R, Levinson RD, Gordon LK. Human Embryonic Stem Cell-Derived Mesenchymal Stromal Cells Decrease the Development of Severe Experimental Autoimmune Uveitis in B10.RIII Mice.. Ocular immunology and inflammation, 2017.
35. Hariri AH, Velaga SB, Girach A, Ip MS, Le PV, Lam BL, Fischer MD, Sankila EM, Pennesi ME, Holz FG, MacLaren RE, Birch DG, Hoyng CB, MacDonald IM, Black GC, Tsang SH, Bressler NM, Larsen M, Gorin MB, Webster AR, Sadda SR, Natural History of the Progression of Choroideremia (NIGHT) Study Group. Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia.. American journal of ophthalmology, 2017.
36. Tu JH, Foote KG, Lujan BJ, Ratnam K, Qin J, Gorin MB, Cunningham ET, Tuten WS, Duncan JL, Roorda A. Dysflective cones: Visual function and cone reflectivity in long-term follow-up of acute bilateral foveolitis.. American journal of ophthalmology case reports, 2017.
37. Shan Y, Tromp G, Kuivaniemi H, Smelser DT, Verma SS, Ritchie MD, Elmore JR, Carey DJ, Conley YP, Gorin MB, Weeks DE. Genetic risk models: Influence of model size on risk estimates and precision.. Genetic epidemiology, 2017.
38. Jiao X, Li A, Jin ZB, Wang X, Iannaccone A, Traboulsi EI, Gorin MB, Simonelli F, Hejtmancik JF. Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.. European journal of human genetics : EJHG, 2017.
39. Parikh S, Le A, Davenport J, Gorin MB, Nusinowitz S, Matynia A. An Alternative and Validated Injection Method for Accessing the Subretinal Space via a Transcleral Posterior Approach.. Journal of visualized experiments : JoVE, 2016.
40. Matynia A, Nguyen E, Sun X, Blixt FW, Parikh S, Kessler J, Pérez de Sevilla Müller L, Habib S, Kim P, Wang ZZ, Rodriguez A, Charles A, Nusinowitz S, Edvinsson L, Barnes S, Brecha NC, Gorin MB. Peripheral Sensory Neurons Expressing Melanopsin Respond to Light.. Frontiers in neural circuits, 2016.
41. Strom SP, Clark MJ, Martinez A, Garcia S, Abelazeem AA, Matynia A, Parikh S, Sullivan LS, Bowne SJ, Daiger SP, Gorin MB. De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.. PloS one, 2016.
42. Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley MA, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NT, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, Klaver CC, Hayward C, Gorin MB, Klein ML, Baird PN, den Hollander AI, Fauser S, Yates JR, Allikmets R, Wang JJ, Schaumberg DA, Klein BE, Hagstrom SA, Chowers I, Lotery AJ, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BH, Abecasis GR, Heid IM. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.. Nature genetics, 2015.
43. Nemiroff J, Kuehlewein L, Rahimy E, Tsui I, Doshi R, Gaudric A, Gorin MB, Sadda S, Sarraf D. Assessing Deep Retinal Capillary Ischemia in Paracentral Acute Middle Maculopathy by Optical Coherence Tomography Angiography.. American journal of ophthalmology, 2015.
44. Tranah GJ, Yaffe K, Katzman SM, Lam ET, Pawlikowska L, Kwok PY, Schork NJ, Manini TM, Kritchevsky S, Thomas F, Newman AB, Harris TB, Coleman AL, Gorin MB, Helzner EP, Rowbotham MC, Browner WS, Cummings SR, Health, Aging and Body Composition Study. Mitochondrial DNA Heteroplasmy Associations With Neurosensory and Mobility Function in Elderly Adults.. The journals of gerontology. Series A, Biological sciences and medical sciences, 2015.
45. Bui DK, Jiang Y, Wei X, Ortube MC, Weeks DE, Conley YP, Gorin MB. Genetic ME-a visualization application for merging and editing pedigrees for genetic studies.. BMC research notes, 2015.
46. Matynia A, Parikh S, Deot N, Wong A, Kim P, Nusinowitz S, Gorin MB. Light aversion and corneal mechanical sensitivity are altered by intrinscally photosensitive retinal ganglion cells in a mouse model of corneal surface damage.. Experimental eye research, 2015.
47. Baron RV, Conley YP, Gorin MB, Weeks DE. dbVOR: a database system for importing pedigree, phenotype and genotype data and exporting selected subsets.. BMC bioinformatics, 2015.
48. Pappas D, Hollenbach J, Coleman AL, Gorin MB, Yu F, Williams K, Noble J, Tranah GJ, Study of Osteoporotic Fractures (SOF) Research Group. HLA class II genotypes are not associated with age related macular degeneration in a case-control, population-based study.. Human immunology, 2015.
49. Gorin MB, Weeks DE, Baron RV, Conley YP, Ortube MC, Nusinowitz S. Endophenotypes for Age-Related Macular Degeneration: Extending Our Reach into the Preclinical Stages of Disease.. Journal of clinical medicine, 2014.
50. Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R. Analysis of the ABCA4 genomic locus in Stargardt disease.. Human molecular genetics, 2014.
51. Iragavarapu S, Gorin MB. Gender specific issues in hereditary ocular disorders.. Current eye research, 2014.
52. Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A. Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.. Human molecular genetics, 2014.
53. Ortube MC, Strom SP, Nelson SF, Nusinowitz S, Martinez A, Gorin MB. Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.. BMC medical genetics, 2014.
54. Gelman SK, Gorin MB. Significant macular edema in a patient with cone dystrophy and improvement with acetazolamide treatment.. Retinal cases & brief reports, 2014.
55. Matynia A, Gorin MB. Unanswered questions in headache: so what is photophobia, anyway?. Headache, 2013.
56. Zhan X, Larson DE, Wang C, Koboldt DC, Sergeev YV, Fulton RS, Fulton LL, Fronick CC, Branham KE, Bragg-Gresham J, Jun G, Hu Y, Kang HM, Liu D, Othman M, Brooks M, Ratnapriya R, Boleda A, Grassmann F, von Strachwitz C, Olson LM, Buitendijk GH, Hofman A, van Duijn CM, Cipriani V, Moore AT, Shahid H, Jiang Y, Conley YP, Morgan DJ, Kim IK, Johnson MP, Cantsilieris S, Richardson AJ, Guymer RH, Luo H, Ouyang H, Licht C, Pluthero FG, Zhang MM, Zhang K, Baird PN, Blangero J, Klein ML, Farrer LA, DeAngelis MM, Weeks DE, Gorin MB, Yates JR, Klaver CC, Pericak-Vance MA, Haines JL, Weber BH, Wilson RK, Heckenlively JR, Chew EY, Stambolian D, Mardis ER, Swaroop A, Abecasis GR. Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.. Nature genetics, 2013.
57. Strom SP, Gorin MB. Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign.. Molecular vision, 2013.
58. Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP, Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE, Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, N Keilhauer C, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefansson H, Sturgill-Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann HE, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Léveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM, Abecasis GR, AMD Gene Consortium. Seven new loci associated with age-related macular degeneration.. Nature genetics, 2013.
59. Ortube MC, Kiderman A, Eydelman Y, Yu F, Aguilar N, Nusinowitz S, Gorin MB. Comparative regional pupillography as a noninvasive biosensor screening method for diabetic retinopathy.. Investigative ophthalmology & visual science, 2013.
60. Matynia A, Parikh S, Chen B, Kim P, McNeill DS, Nusinowitz S, Evans C, Gorin MB. Intrinsically photosensitive retinal ganglion cells are the primary but not exclusive circuit for light aversion.. Experimental eye research, 2012.
61. Strom SP, Gao YQ, Martinez A, Ortube C, Chen Z, Nelson SF, Nusinowitz S, Farber DB, Gorin MB. Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.. BMC medical genetics, 2012.
62. 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, Gorin MB, Hardcastle AJ. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).. Human molecular genetics, 2012.
63. Gorin MB. Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics.. Molecular aspects of medicine, 2012.
64. Sofat R, Casas JP, Webster AR, Bird AC, Mann SS, Yates JR, Moore AT, Sepp T, Cipriani V, Bunce C, Khan JC, Shahid H, Swaroop A, Abecasis G, Branham KE, Zareparsi S, Bergen AA, Klaver CC, Baas DC, Zhang K, Chen Y, Gibbs D, Weber BH, Keilhauer CN, Fritsche LG, Lotery A, Cree AJ, Griffiths HL, Bhattacharya SS, Chen LL, Jenkins SA, Peto T, Lathrop M, Leveillard T, Gorin MB, Weeks DE, Ortube MC, Ferrell RE, Jakobsdottir J, Conley YP, Rahu M, Seland JH, Soubrane G, Topouzis F, Vioque J, Tomazzoli L, Young I, Whittaker J, Chakravarthy U, de Jong PT, Smeeth L, Fletcher A, Hingorani AD. Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.. International journal of epidemiology, 2012.
65. Chiu CJ, Conley YP, Gorin MB, Gensler G, Lai CQ, Shang F, Taylor A. Associations between genetic polymorphisms of insulin-like growth factor axis genes and risk for age-related macular degeneration.. Investigative ophthalmology & visual science, 2011.
66. McKay GJ, Patterson CC, Chakravarthy U, Dasari S, Klaver CC, Vingerling JR, Ho L, de Jong PT, Fletcher AE, Young IS, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Hingorani AD, Sofat R, Dean M, Sawitzke J, Seddon JM, Peter I, Webster AR, Moore AT, Yates JR, Cipriani V, Fritsche LG, Weber BH, Keilhauer CN, Lotery AJ, Ennis S, Klein ML, Francis PJ, Stambolian D, Orlin A, Gorin MB, Weeks DE, Kuo CL, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Wright AF, Hayward C, Baird PN, Guymer RH, Attia J, Thakkinstian A, Silvestri G. Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.. Human mutation, 2011.
67. Choi DY, Ortube MC, McCannel CA, Sarraf D, Hubschman JP, McCannel TA, Gorin MB. Sustained elevated intraocular pressures after intravitreal injection of bevacizumab, ranibizumab, and pegaptanib.. Retina (Philadelphia, Pa.), 2011.
68. Wittes J, Gorin MB, Mayne ST, McCarthy CS, Sternberg P, Wall M. Letter from the DSMC regarding a clinical trial of lutein in patients with retinitis pigmentosa.. Archives of ophthalmology (Chicago, Ill. : 1960), 2011.
69. McKay GJ, Silvestri G, Chakravarthy U, Dasari S, Fritsche LG, Weber BH, Keilhauer CN, Klein ML, Francis PJ, Klaver CC, Vingerling JR, Ho L, De Jong PT, Dean M, Sawitzke J, Baird PN, Guymer RH, Stambolian D, Orlin A, Seddon JM, Peter I, Wright AF, Hayward C, Lotery AJ, Ennis S, Gorin MB, Weeks DE, Kuo CL, Hingorani AD, Sofat R, Cipriani V, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Yates JR, Webster AR, Moore AT, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Young IS, Fletcher AE, Patterson CC. Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people.. American journal of epidemiology, 2011.
70. Spencer KL, Olson LM, Schnetz-Boutaud N, Gallins P, Wang G, Scott WK, Agarwal A, Jakobsdottir J, Conley Y, Weeks DE, Gorin MB, Pericak-Vance MA, Haines JL. Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility.. Investigative ophthalmology & visual science, 2011.
71. Charles BA, Conley YP, Chen G, Miller RG, Dorman JS, Gorin MB, Ferrell RE, Sereika SM, Rotimi CN, Orchard TJ. Variants of the adenosine A(2A) receptor gene are protective against proliferative diabetic retinopathy in patients with type 1 diabetes.. Ophthalmic research, 2010.
72. Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, Tosakulwong N, Pericak-Vance MA, Campochiaro PA, Klein ML, Tan PL, Conley YP, Kanda A, Kopplin L, Li Y, Augustaitis KJ, Karoukis AJ, Scott WK, Agarwal A, Kovach JL, Schwartz SG, Postel EA, Brooks M, Baratz KH, Brown WL, Complications of Age-Related Macular Degeneration Prevention Trial Research Group, Brucker AJ, Orlin A, Brown G, Ho A, Regillo C, Donoso L, Tian L, Kaderli B, Hadley D, Hagstrom SA, Peachey NS, Klein R, Klein BE, Gotoh N, Yamashiro K, Ferris Iii F, Fagerness JA, Reynolds R, Farrer LA, Kim IK, Miller JW, Cortón M, Carracedo A, Sanchez-Salorio M, Pugh EW, Doheny KF, Brion M, Deangelis MM, Weeks DE, Zack DJ, Chew EY, Heckenlively JR, Yoshimura N, Iyengar SK, Francis PJ, Katsanis N, Seddon JM, Haines JL, Gorin MB, Abecasis GR, Swaroop A. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.. Proceedings of the National Academy of Sciences of the United States of America, 2010.
73. Aldave AJ, Rosenwasser GO, Yellore VS, Papp JC, Sobel EM, Pham MN, Chen MC, Dandekar S, Sripracha R, Rayner SA, Sassani JW, Gorin MB. Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.. Investigative ophthalmology & visual science, 2010.
74. Reddy S, Gorin MB, McCannel TA, Tsui I, Straatsma BR. Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation.. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2010.
75. Tosha C, Gorin MB, Nusinowitz S. Test-retest reliability and inter-ocular symmetry of multi-focal electroretinography in Stargardt disease.. Current eye research, 2010.
76. Hosseini SM, Biglan MW, Larkby C, Brooks MM, Gorin MB, Day NL. Trait anxiety in pregnant women predicts offspring birth outcomes.. Paediatric and perinatal epidemiology, 2009.
77. Aldave AJ, Yellore VS, Vo RC, Kamal KM, Rayner SA, Plaisier CL, Chen MC, Damani MR, Pham MN, Gorin MB, Sobel E, Papp J. Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.. Cornea, 2009.
78. Jakobsdottir J, Gorin MB, Conley YP, Ferrell RE, Weeks DE. Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers.. PLoS genetics, 2009.
79. Jakobsdottir J, Conley YP, Weeks DE, Ferrell RE, Gorin MB. C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.. PloS one, 2008.
80. Thiels E, Hoffman EK, Gorin MB. A reliable behavioral assay for the assessment of sustained photophobia in mice.. Current eye research, 2008.
81. Young TA, Burgess BL, Rao NP, Gorin MB, Straatsma BR. High-density genome array is superior to fluorescence in-situ hybridization analysis of monosomy 3 in choroidal melanoma fine needle aspiration biopsy.. Molecular vision, 2007.
82. Yellore VS, Khan MA, Bourla N, Rayner SA, Chen MC, Sonmez B, Momi RS, Sampat KM, Gorin MB, Aldave AJ. Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy.. Molecular vision, 2007.
83. Thomas G, Grassi MA, Lee JR, Edwards AO, Gorin MB, Klein R, Casavant TL, Scheetz TE, Stone EM, Williams AB. IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping.. Investigative ophthalmology & visual science, 2007.
84. Ghajarnia M, Gorin MB. Acetazolamide in the treatment of X-linked retinoschisis maculopathy.. Archives of ophthalmology (Chicago, Ill. : 1960), 2007.
85. Gorin MB. A clinician's view of the molecular genetics of age-related maculopathy.. Archives of ophthalmology (Chicago, Ill. : 1960), 2007.
86. Tikellis G, Sun C, Gorin MB, Klein R, Klein BE, Larsen EK, Siscovick DS, Hubbard LD, Wong TY. Apolipoprotein e gene and age-related maculopathy in older individuals: the cardiovascular health study.. Archives of ophthalmology (Chicago, Ill. : 1960), 2007.
87. Conley YP, Jakobsdottir J, Mah T, Weeks DE, Klein R, Kuller L, Ferrell RE, Gorin MB. CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.. Human molecular genetics, 2006.
88. Demirci FY, Chang MH, Mah TS, Romero MF, Gorin MB. Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).. Molecular vision, 2006.
89. Demirci FY, Rigatti BW, Mah TS, Gorin MB. A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy.. American journal of ophthalmology, 2006.
90. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB. Susceptibility genes for age-related maculopathy on chromosome 10q26.. American journal of human genetics, 2005.
91. Gorin MB. A new vision for age-related macular degeneration.. European journal of human genetics : EJHG, 2005.
92. Fisher SA, Abecasis GR, Yashar BM, Zareparsi S, Swaroop A, Iyengar SK, Klein BE, Klein R, Lee KE, Majewski J, Schultz DW, Klein ML, Seddon JM, Santangelo SL, Weeks DE, Conley YP, Mah TS, Schmidt S, Haines JL, Pericak-Vance MA, Gorin MB, Schulz HL, Pardi F, Lewis CM, Weber BH. Meta-analysis of genome scans of age-related macular degeneration.. Human molecular genetics, 2005.
93. Conley YP, Thalamuthu A, Jakobsdottir J, Weeks DE, Mah T, Ferrell RE, Gorin MB. Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy.. Human molecular genetics, 2005.
94. Gorin MB, Costantino JP, Kulacoglu DN, Demirci FY, Wickerham DL, Fisher B, Wolmark N. Is tamoxifen a risk factor for retinal vaso-occlusive disease?. Retina (Philadelphia, Pa.), 2005.
95. Gorin MB. The coming of age for age-related macular degeneration genetics.. Ophthalmic genetics, 2005.
96. Demirci FY, Gupta N, Radak AL, Rigatti BW, Mah TS, Milam AH, Gorin MB. Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15.. American journal of ophthalmology, 2005.
97. Demirci FY, Radak AL, Rigatti BW, Mah TS, Gorin MB. A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping.. American journal of ophthalmology, 2004.
98. Schmidt S, Scott WK, Postel EA, Agarwal A, Hauser ER, De La Paz MA, Gilbert JR, Weeks DE, Gorin MB, Haines JL, Pericak-Vance MA. Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12.. BMC genetics, 2004.
99. Demirci FY, Rigatti BW, Mah TS, Gorin MB. A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens.. American journal of ophthalmology, 2004.
100. Weeks DE, Conley YP, Tsai HJ, Mah TS, Schmidt S, Postel EA, Agarwal A, Haines JL, Pericak-Vance MA, Rosenfeld PJ, Paul TO, Eller AW, Morse LS, Dailey JP, Ferrell RE, Gorin MB. Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions.. American journal of human genetics, 2004.
101. Telmer CA, Retchless AC, Kinsey AD, Conley Y, Rigatti B, Gorin MB, Jarvik JW, Retchless AR. Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin gene.. Genome research, 2003.
102. Conley YP, Gorin MB. The genetics of age-related macular degeneration.. Medsurg nursing : official journal of the Academy of Medical-Surgical Nurses, 2003.
103. Demirci FY, Ramser J, White NJ, Rigatti BW, Meindl A, Lewis KF, Wen G, Gorin MB. Refinement of the physical location and the genomic characterization of the CRSP2 (EXLM1) gene on Xp11.4.. DNA sequence : the journal of DNA sequencing and mapping, 2003.
104. Schmidt S, Klaver C, Saunders A, Postel E, De La Paz M, Agarwal A, Small K, Udar N, Ong J, Chalukya M, Nesburn A, Kenney C, Domurath R, Hogan M, Mah T, Conley Y, Ferrell R, Weeks D, de Jong PT, van Duijn C, Haines J, Pericak-Vance M, Gorin M. A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy.. Ophthalmic genetics, 2002.
105. Ayyagari R, Demirci FY, Liu J, Bingham EL, Stringham H, Kakuk LE, Boehnke M, Gorin MB, Richards JE, Sieving PA. X-linked recessive atrophic macular degeneration from RPGR mutation.. Genomics, 2002.
106. Weeks DE, Conley YP, Ferrell RE, Mah TS, Gorin MB. A tale of two genotypes: consistency between two high-throughput genotyping centers.. Genome research, 2002.
107. Demirci FY, Rigatti BW, Wen G, Radak AL, Mah TS, Baic CL, Traboulsi EI, Alitalo T, Ramser J, Gorin MB. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.. American journal of human genetics, 2002.