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Ajoy Vincent

TitleAssociate Staff - Ophthalmology
InstitutionThe Hospital for Sick Children
DepartmentOphthalmology
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Tavares E, Tang CY, Vig A, Li S, Billingsley G, Sung W, Vincent A, Thiruvahindrapuram B, Héon E. Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. Mol Genet Genomic Med. 2018 Nov 28. PMID: 30484961.
      View in: PubMed
    2. Liu H, Ji X, Dhaliwal S, Rahman SN, McFarlane M, Tumber A, Locke J, Wright T, Vincent A, Westall C. Evaluation of light- and dark-adapted ERGs using a mydriasis-free, portable system: clinical classifications and normative data. Doc Ophthalmol. 2018 12; 137(3):169-181. PMID: 30357588.
      View in: PubMed
    3. Vincent A, Macrì A, Tumber A, Koukas N, Ahonen S, Striano P, Minassian B. Ocular phenotype and electroretinogram abnormalities in Lafora disease: A "window to the brain". Neurology. 2018 Jul 17; 91(3):137-139. PMID: 29907606.
      View in: PubMed
    4. Shabanova I, Cohen E, Cada M, Vincent A, Cohn RD, Dror Y. ERCC6L2-associated inherited bone marrow failure syndrome. Mol Genet Genomic Med. 2018 05; 6(3):463-468. PMID: 29633571.
      View in: PubMed
    5. Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M. Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta. Am J Ophthalmol. 2018 04; 188:123-130. PMID: 29421294.
      View in: PubMed
    6. Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018 04; 20(4):435-443. PMID: 28771251.
      View in: PubMed
    7. Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E, Berger W. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Invest Ophthalmol Vis Sci. 2017 08 01; 58(10):3840-3850. PMID: 28763557.
      View in: PubMed
    8. Dinur Schejter Y, Ovadia A, Alexandrova R, Thiruvahindrapuram B, Pereira SL, Manson DE, Vincent A, Merico D, Roifman CM. A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome. NPJ Genom Med. 2017; 2:23. PMID: 29263834.
      View in: PubMed
    9. Ku CA, Hull S, Arno G, Vincent A, Carss K, Kayton R, Weeks D, Anderson GW, Geraets R, Parker C, Pearce DA, Michaelides M, MacLaren RE, Robson AG, Holder GE, Heon E, Raymond FL, Moore AT, Webster AR, Pennesi ME. Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration. JAMA Ophthalmol. 2017 Jul 01; 135(7):749-760. PMID: 28542676.
      View in: PubMed
    10. Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood. 2017 03 16; 129(11):1557-1562. PMID: 28062395.
      View in: PubMed
    11. Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczynski MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH. Achromatopsia mutations target sequential steps of ATF6 activation. Proc Natl Acad Sci U S A. 2017 01 10; 114(2):400-405. PMID: 28028229.
      View in: PubMed
    12. Vincent A, Ng J, Gerth-Kahlert C, Tavares E, Maynes JT, Wright T, Tiwari A, Tumber A, Li S, Hanson JV, Bahr A, MacDonald H, Bähr L, Westall C, Berger W, Cremers FP, den Hollander AI, Héon E. Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis. Invest Ophthalmol Vis Sci. 2016 05 01; 57(6):2637-46. PMID: 27258436.
      View in: PubMed
    13. Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. Am J Hum Genet. 2016 05 05; 98(5):1011-1019. PMID: 27063057.
      View in: PubMed
    14. Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet. 2016 06 01; 25(11):2283-2294. PMID: 27008867.
      View in: PubMed
    15. Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat Genet. 2015 Jul; 47(7):757-65. PMID: 26029869; PMCID: PMC4610820.
    16. Bourgault S, Baril C, Vincent A, Héon E, Ali A, MacDonald I, Lueder GT, Colleaux KM, Laliberté I. Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series. Br J Ophthalmol. 2015 Nov; 99(11):1536-42. PMID: 25926518.
      View in: PubMed
    17. Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. Eur J Hum Genet. 2015 Oct; 23(10):1318-27. PMID: 25649381; PMCID: PMC4592079.
    18. Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR, Héon E. OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. J Med Genet. 2014 Dec; 51(12):797-805. PMID: 25293953.
      View in: PubMed
    19. Sergeev YV, Vitale S, Sieving PA, Vincent A, Robson AG, Moore AT, Webster AR, Holder GE. Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes. Hum Mol Genet. 2013 Dec 01; 22(23):4756-67. PMID: 23847049; PMCID: PMC3820135.
    20. Vincent A, Robson AG, Neveu MM, Wright GA, Moore AT, Webster AR, Holder GE. A phenotype-genotype correlation study of X-linked retinoschisis. Ophthalmology. 2013 Jul; 120(7):1454-64. PMID: 23453514.
      View in: PubMed
    21. Vincent A, Wright T, Garcia-Sanchez Y, Kisilak M, Campbell M, Westall C, Héon E. Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram". Invest Ophthalmol Vis Sci. 2013 Jan 30; 54(1):898-908. PMID: 23221069; PMCID: PMC3880354.
    22. Vincent A, Robson AG, Holder GE. Pathognomonic (diagnostic) ERGs. A review and update. Retina. 2013 Jan; 33(1):5-12. PMID: 23263253.
      View in: PubMed
    23. Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Héon E. The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration. Retina. 2012 Sep; 32(8):1643-51. PMID: 22277927.
      View in: PubMed
    24. Billingsley G, Vincent A, Deveault C, Héon E. Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. Ophthalmic Genet. 2012 Sep; 33(3):150-4. PMID: 22626039.
      View in: PubMed
    25. Vincent A, Wright T, Day MA, Westall CA, Héon E. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. Mol Vis. 2011; 17:3262-70. PMID: 22194652; PMCID: PMC3244487.
    26. Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat. 2011 Jun; 32(6):610-9. PMID: 21344540.
      View in: PubMed
    27. Vincent A, Wright T, Billingsley G, Westall C, Héon E. Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders. Ophthalmic Genet. 2011 Jun; 32(2):107-13. PMID: 21268679.
      View in: PubMed
    28. Vincent A, Shetty R, Devi SA, Kurian MK, Balu R, Shetty B. Functional involvement of cone photoreceptors in advanced glaucoma: a multifocal electroretinogram study. Doc Ophthalmol. 2010 Aug; 121(1):21-7. PMID: 20336478.
      View in: PubMed
    29. Vincent A, Shetty R, Kurian M, Shetty BK. Prospective, cross-sectional study, demonstrating efficacy of blue fixation target while recording Pattern Visual Evoked Potential in optic neuropathy. Doc Ophthalmol. 2009 Oct; 119(2):89-99. PMID: 19513771.
      View in: PubMed
    30. Shetty R, Pai SA, Vincent A, Shetty N, Narayana KM, Sinha B, Shetty BK. Electrophysiological and structural assessment of the central retina following intravitreal injection of bevacizumab for treatment of macular edema. Doc Ophthalmol. 2008 Mar; 116(2):129-35. PMID: 17960440.
      View in: PubMed
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