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Andrew C. Orr

Medicine

    Calculated based on number of publications stored in Pure and citations from PlumX
    Calculated based on number of publications stored in Pure and citations from Scopus
    Calculated based on number of publications stored in Pure and citations from Scopus
    1988 …2021

    Research activity per year

    Search results

    • 2021

      Association of Rare CYP39A1 Variants with Exfoliation Syndrome Involving the Anterior Chamber of the Eye

      Li, Z., Wang, Z., Lee, M. C., Zenkel, M., Peh, E., Ozaki, M., Topouzis, F., Nakano, S., Chan, A., Chen, S., Williams, S. E. I., Orr, A., Nakano, M., Kobakhidze, N., Zarnowski, T., Popa-Cherecheanu, A., Mizoguchi, T., Manabe, S. I., Hayashi, K., Kazama, S., & 98 othersInoue, K., Mori, Y., Miyata, K., Sugiyama, K., Higashide, T., Chihara, E., Ideta, R., Ishiko, S., Yoshida, A., Tokumo, K., Kiuchi, Y., Ohashi, T., Sakurai, T., Sugimoto, T., Chuman, H., Aihara, M., Inatani, M., Mori, K., Ikeda, Y., Ueno, M., Gaston, D., Rafuse, P., Shuba, L., Saunders, J., Nicolela, M., Chichua, G., Tabagari, S., Founti, P., Sim, K. S., Meah, W. Y., Soo, H. M., Chen, X. Y., Chatzikyriakidou, A., Keskini, C., Pappas, T., Anastasopoulos, E., Lambropoulos, A., Panagiotou, E. S., Mikropoulos, D. G., Kosior-Jarecka, E., Cheong, A., Li, Y., Lukasik, U., Nongpiur, M. E., Husain, R., Perera, S. A., Álvarez, L., García, M., González-Iglesias, H., Cueto, A. F. V., Cueto, L. F. V., Martinón-Torres, F., Salas, A., Oguz, Ç., Tamcelik, N., Atalay, E., Batu, B., Irkec, M., Aktas, D., Kasim, B., Astakhov, Y. S., Astakhov, S. Y., Akopov, E. L., Giessl, A., Mardin, C., Hellerbrand, C., Cooke Bailey, J. N., Igo, R. P., Haines, J. L., Edward, D. P., Heegaard, S., Davila, S., Tan, P., Kang, J. H., Pasquale, L. R., Kruse, F. E., Reis, A., Carmichael, T. R., Hauser, M., Ramsay, M., Mossböck, G., Yildirim, N., Tashiro, K., Konstas, A. G. P., Coca-Prados, M., Foo, J. N., Kinoshita, S., Sotozono, C., Kubota, T., Dubina, M., Ritch, R., Wiggs, J. L., Pasutto, F., Schlötzer-Schrehardt, U., Ho, Y. S., Aung, T., Tam, W. L. & Khor, C. C., Feb 23 2021, In: JAMA - Journal of the American Medical Association. 325, 8, p. 753-764 12 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      21 Citations (Scopus)

    • Familial Optic Disc Pits in 2 Father-Son Pairs: Clinical Features and Genetic Analysis

      Betsch, D., Orr, A., Nightingale, M., Gaston, D. & Gupta, R., Jul 1 2021, In: Case Reports in Ophthalmology. 12, 2, p. 603-610 8 p.

      Medicine

      Research output: Contribution to journal › Article › peer-review

      Open Access
    • 2018

      Müller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error

      Paylakhi, S., Labelle-Dumais, C., Tolman, N. G., Sellarole, M. A., Seymens, Y., Saunders, J., Lakosha, H., deVries, W. N., Orr, A. C., Topilko, P., John, S. W. M. & Nair, K. S., Mar 2018, In: PLoS Genetics. 14, 3, e1007244.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      37 Citations (Scopus)
    • 2017

      Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

      Aung, T., Ozaki, M., Lee, M. C., Schlötzer-Schrehardt, U., Thorleifsson, G., Mizoguchi, T., Igo, R. P., Haripriya, A., Williams, S. E., Astakhov, Y. S., Orr, A. C., Burdon, K. P., Nakano, S., Mori, K., Abu-Amero, K., Hauser, M., Li, Z., Prakadeeswari, G., Bailey, J. N. C., Cherecheanu, A. P., & 269 othersKang, J. H., Nelson, S., Hayashi, K., Manabe, S. I., Kazama, S., Zarnowski, T., Inoue, K., Irkec, M., Coca-Prados, M., Sugiyama, K., Järvelä, I., Schlottmann, P., Lerner, S. F., Lamari, H., Nilgün, Y., Bikbov, M., Park, K. H., Cha, S. C., Yamashiro, K., Zenteno, J. C., Jonas, J. B., Kumar, R. S., Perera, S. A., Chan, A. S. Y., Kobakhidze, N., George, R., Vijaya, L., Do, T., Edward, D. P., De Juan Marcos, L., Pakravan, M., Moghimi, S., Ideta, R., Bach-Holm, D., Kappelgaard, P., Wirostko, B., Thomas, S., Gaston, D., Bedard, K., Greer, W. L., Yang, Z., Chen, X., Huang, L., Sang, J., Jia, H., Jia, L., Qiao, C., Zhang, H., Liu, X., Zhao, B., Wang, Y. X., Xu, L., Leruez, S., Reynier, P., Chichua, G., Tabagari, S., Uebe, S., Zenkel, M., Berner, D., Mossböck, G., Weisschuh, N., Hoja, U., Welge-Luessen, U. C., Mardin, C., Founti, P., Chatzikyriakidou, A., Pappas, T., Anastasopoulos, E., Lambropoulos, A., Ghosh, A., Shetty, R., Porporato, N., Saravanan, V., Venkatesh, R., Shivkumar, C., Kalpana, N., Sarangapani, S., Kanavi, M. R., Beni, A. N., Yazdani, S., Lashay, A., Naderifar, H., Khatibi, N., Fea, A., Lavia, C., Dallorto, L., Rolle, T., Frezzotti, P., Paoli, D., Salvi, E., Manunta, P., Mori, Y., Miyata, K., Higashide, T., Chihara, E., Ishiko, S., Yoshida, A., Yanagi, M., Kiuchi, Y., Ohashi, T., Sakurai, T., Sugimoto, T., Chuman, H., Aihara, M., Inatani, M., Miyake, M., Gotoh, N., Matsuda, F., Yoshimura, N., Ikeda, Y., Ueno, M., Sotozono, C., Jeoung, J. W., Sagong, M., Park, K. H., Ahn, J., Cruz-Aguilar, M., Ezzouhairi, S. M., Rafei, A., Chong, Y. F., Ng, X. Y., Goh, S. R., Chen, Y., Yong, V. H. K., Khan, M. I., Olawoye, O. O., Ashaye, A. O., Ugbede, I., Onakoya, A., Kizor-Akaraiwe, N., Teekhasaenee, C., Suwan, Y., Supakontanasan, W., Okeke, S., Uche, N. J., Asimadu, I., Ayub, H., Akhtar, F., Kosior-Jarecka, E., Lukasik, U., Lischinsky, I., Castro, V., Grossmann, R. P., Megevand, G. S., Roy, S., Dervan, E., Silke, E., Rao, A., Sahay, P., Fornero, P., Cuello, O., Sivori, D., Zompa, T., Mills, R. A., Souzeau, E., Mitchell, P., Wang, J. J., Hewitt, A. W., Coote, M., Crowston, J. G., Astakhov, S. Y., Akopov, E. L., Emelyanov, A., Vysochinskaya, V., Kazakbaeva, G., Fayzrakhmanov, R., Al-Obeidan, S. A., Owaidhah, O., Aljasim, L. A., Chowbay, B., Foo, J. N., Soh, R. Q., Sim, K. S., Xie, Z., Cheong, A. W. O., Mok, S. Q., Soo, H. M., Chen, X. Y., Peh, S. Q., Heng, K. K., Husain, R., Ho, S. L., Hillmer, A. M., Cheng, C. Y., Escudero-Domínguez, F. A., González-Sarmiento, R., Martinon-Torres, F., Salas, A., Pathanapitoon, K., Hansapinyo, L., Wanichwecharugruang, B., Kitnarong, N., Sakuntabhai, A., Nguyn, H. X., Nguyn, G. T. T., Nguyn, T. V., Zenz, W., Binder, A., Klobassa, D. S., Hibberd, M. L., Davila, S., Herms, S., Nöthen, M. M., Moebus, S., Rautenbach, R. M., Ziskind, A., Carmichael, T. R., Ramsay, M., Álvarez, L., García, M., González-Iglesias, H., Rodríguez-Calvo, P. P., Cueto, L. F. V., Oguz, Ç., Tamcelik, N., Atalay, E., Batu, B., Aktas, D., Kaslm, B., Wilson, M. R., Coleman, A. L., Liu, Y., Challa, P., Herndon, L., Kuchtey, R. W., Kuchtey, J., Curtin, K., Chaya, C. J., Crandall, A., Zangwill, L. M., Wong, T. Y., Nakano, M., Kinoshita, S., Den Hollander, A. I., Vesti, E., Fingert, J. H., Lee, R. K., Sit, A. J., Shingleton, B. J., Wang, N., Cusi, D., Qamar, R., Kraft, P., Pericak-Vance, M. A., Raychaudhuri, S., Heegaard, S., Kivelä, T., Reis, A., Kruse, F. E., Weinreb, R. N., Pasquale, L. R., Haines, J. L., Thorsteinsdottir, U., Jonasson, F., Allingham, R. R., Milea, D., Ritch, R., Kubota, T., Tashiro, K., Vithana, E. N., Micheal, S., Topouzis, F., Craig, J. E., Dubina, M., Sundaresan, P., Stefansson, K., Wiggs, J. L., Pasutto, F. & Khor, C. C., Jul 1 2017, In: Nature Genetics. 49, 7, p. 993-1004 12 p.

      Research output: Contribution to journal › Article › peer-review

      120 Citations (Scopus)
    • 2016

      Neuroretinal Rim Area Change in Glaucoma Patients with Visual Field Progression Endpoints and Intraocular Pressure Reduction. the Canadian Glaucoma Study: 4

      Canadian Glaucoma Study Group, Mar 1 2016, In: American Journal of Ophthalmology. 163, p. 140-147.e1

      Medicine

      Research output: Contribution to journal › Article › peer-review

      3 Citations (Scopus)
    • 2015

      A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

      Aung, T., Ozaki, M., Mizoguchi, T., Allingham, R. R., Li, Z., Haripriya, A., Nakano, S., Uebe, S., Harder, J. M., Chan, A. S. Y., Lee, M. C., Burdon, K. P., Astakhov, Y. S., Abu-Amero, K. K., Zenteno, J. C., Nilgün, Y., Zarnowski, T., Pakravan, M., Safieh, L. A., Jia, L., & 141 othersWang, Y. X., Williams, S., Paoli, D., Schlottmann, P. G., Huang, L., Sim, K. S., Foo, J. N., Nakano, M., Ikeda, Y., Kumar, R. S., Ueno, M., Manabe, S. I., Hayashi, K., Kazama, S., Ideta, R., Mori, Y., Miyata, K., Sugiyama, K., Higashide, T., Chihara, E., Inoue, K., Ishiko, S., Yoshida, A., Yanagi, M., Kiuchi, Y., Aihara, M., Ohashi, T., Sakurai, T., Sugimoto, T., Chuman, H., Matsuda, F., Yamashiro, K., Gotoh, N., Miyake, M., Astakhov, S. Y., Osman, E. A., Al-Obeidan, S. A., Owaidhah, O., Al-Jasim, L., Shahwan, S. A., Fogarty, R. A., Leo, P., Yetkin, Y., Ouz, Ç., Kanavi, M. R., Beni, A. N., Yazdani, S., Akopov, E. L., Toh, K. Y., Howell, G. R., Orr, A. C., Goh, Y., Meah, W. Y., Peh, S. Q., Kosior-Jarecka, E., Lukasik, U., Krumbiegel, M., Vithana, E. N., Wong, T. Y., Liu, Y., Koch, A. E. A., Challa, P., Rautenbach, R. M., Mackey, D. A., Hewitt, A. W., Mitchell, P., Wang, J. J., Ziskind, A., Carmichael, T., Ramakrishnan, R., Narendran, K., Venkatesh, R., Vijayan, S., Zhao, P., Chen, X., Guadarrama-Vallejo, D., Cheng, C. Y., Perera, S. A., Husain, R., Ho, S. L., Welge-Luessen, U. C., Mardin, C., Schloetzer-Schrehardt, U., Hillmer, A. M., Herms, S., Moebus, S., Nöthen, M. M., Weisschuh, N., Shetty, R., Ghosh, A., Teo, Y. Y., Brown, M. A., Lischinsky, I., Crowston, J. G., Coote, M., Zhao, B., Sang, J., Zhang, N., You, Q., Vysochinskaya, V., Founti, P., Chatzikyriakidou, A., Lambropoulos, A., Anastasopoulos, E., Coleman, A. L., Wilson, M. R., Rhee, D. J., Kang, J. H., May-Bolchakova, I., Heegaard, S., Mori, K., Alward, W. L. M., Jonas, J. B., Xu, L., Liebmann, J. M., Chowbay, B., Schaeffeler, E., Schwab, M., Lerner, F., Wang, N., Yang, Z., Frezzotti, P., Kinoshita, S., Fingert, J. H., Inatani, M., Tashiro, K., Reis, A., Edward, D. P., Pasquale, L. R., Kubota, T., Wiggs, J. L., Pasutto, F., Topouzis, F., Dubina, M., Craig, J. E., Yoshimura, N., Sundaresan, P., John, S. W. M., Ritch, R., Hauser, M. A. & Khor, C. C., Apr 28 2015, In: Nature Genetics. 47, 4, p. 387-392 6 p.

      Research output: Contribution to journal › Article › peer-review

      105 Citations (Scopus)

    • Erratum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome (Nature Genetics (2015) 47 (387-392))

      Aung, T., Ozaki, M., Mizoguchi, T., Allingham, R. R., Li, Z., Haripriya, A., Nakano, S., Uebe, S., Harder, J. M., Chan, A. S. Y., Lee, M. C., Burdon, K. P., Astakhov, Y. S., Abu-Amero, K. K., Zenteno, J. C., Nilgün, Y., Zarnowski, T., Pakravan, M., Safieh, L. A., Jia, L., & 141 othersWang, Y. X., Williams, S., Paoli, D., Schlottmann, P. G., Huang, L., Sim, K. S., Foo, J. N., Nakano, M., Ikeda, Y., Kumar, R. S., Ueno, M., Manabe, S. I., Hayashi, K., Kazama, S., Ideta, R., Mori, Y., Miyata, K., Sugiyama, K., Higashide, T., Chihara, E., Inoue, K., Ishiko, S., Yoshida, A., Yanagi, M., Kiuchi, Y., Aihara, M., Ohashi, T., Sakurai, T., Sugimoto, T., Chuman, H., Matsuda, F., Yamashiro, K., Gotoh, N., Miyake, M., Astakhov, S. Y., Osman, E. A., Al-Obeidan, S. A., Owaidhah, O., Al-Jasim, L., Shahwan, S. A., Fogarty, R. A., Leo, P., Yetkin, Y., Oaiuz, Ç., Kanavi, M. R., Beni, A. N., Yazdani, S., Akopov, E. L., Toh, K. Y., Howell, G. R., Orr, A. C., Goh, Y., Meah, W. Y., Peh, S. Q., Kosior-Jarecka, E., Lukasik, U., Krumbiegel, M., Vithana, E. N., Wong, T. Y., Liu, Y., Koch, A. E. A., Challa, P., Rautenbach, R. M., Mackey, D. A., Hewitt, A. W., Mitchell, P., Wang, J. J., Ziskind, A., Carmichael, T., Ramakrishnan, R., Narendran, K., Venkatesh, R., Vijayan, S., Zhao, P., Chen, X., Guadarrama-Vallejo, D., Cheng, C. Y., Perera, S. A., Husain, R., Ho, S. L., Welge-Luessen, U. C., Mardin, C., Schloetzer-Schrehardt, U., Hillmer, A. M., Herms, S., Moebus, S., Nöthen, M. M., Weisschuh, N., Shetty, R., Ghosh, A., Teo, Y. Y., Brown, M. A., Lischinsky, I., Crowston, J. G., Coote, M., Zhao, B., Sang, J., Zhang, N., You, Q., Vysochinskaya, V., Founti, P., Chatzikyriakidou, A., Lambropoulos, A., Anastasopoulos, E., Coleman, A. L., Wilson, M. R., Rhee, D. J., Kang, J. H., May-Bolchakova, I., Heegaard, S., Mori, K., Alward, W. L. M., Jonas, J. B., Xu, L., Liebmann, J. M., Chowbay, B., Schaeffeler, E., Schwab, M., Lerner, F., Wang, N., Yang, Z., Frezzotti, P., Kinoshita, S., Fingert, J. H., Inatani, M., Tashiro, K., Reis, A., Edward, D. P., Pasquale, L. R., Kubota, T., Wiggs, J. L., Pasutto, F., Topouzis, F., Dubina, M., Craig, J. E., Yoshimura, N., Sundaresan, P., John, S. W. M., Ritch, R., Hauser, M. A. & Khor, C. C., May 27 2015, In: Nature Genetics. 47, 6, p. 689 1 p.

      Medicine

      Research output: Contribution to journal › Comment/debate › peer-review

      Open Access

    • Stability of attitudes to the ethical issues raised by the return of incidental genomic research findings in children: A follow-up study

      Fernandez, C. V., O'Connell, C., Ferguson, M., Orr, A. C., Robitaille, J. M., Knoppers, B. M. & McMaster, C. R., Oct 8 2015, In: Public Health Genomics. 18, 5, p. 299-308 10 p.

      Research output: Contribution to journal › Article › peer-review

      12 Citations (Scopus)
    • 2014

      Attitudes of parents toward the return of targeted and incidental genomic research findings in children

      Fernandez, C. V., Bouffet, E., Malkin, D., Jabado, N., O'Connell, C., Avard, D., Knoppers, B. M., Ferguson, M., Boycott, K. M., Sorensen, P. H., Orr, A. C., Robitaille, J. M. & McMaster, C. R., Aug 2014, In: Genetics in Medicine. 16, 8, p. 633-640 8 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      85 Citations (Scopus)

    • Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer

      Gaston, D., Hansford, S., Oliveira, C., Nightingale, M., Pinheiro, H., Macgillivray, C., Kaurah, P., Rideout, A. L., Steele, P., Soares, G., Huang, W. Y., Whitehouse, S., Blowers, S., LeBlanc, M. A., Jiang, H., Greer, W., Samuels, M. E., Orr, A., Fernandez, C. V., Majewski, J., & 6 othersLudman, M., Dyack, S., Penney, L. S., McMaster, C. R., Huntsman, D. & Bedard, K., Oct 1 2014, In: PLoS Genetics. 10, 10

      Research output: Contribution to journal › Article › peer-review

      Open Access
      59 Citations (Scopus)
    • 2013

      A novel rearrangement of occludin causes brain calcification and renal dysfunction

      Leblanc, M. A., Penney, L. S., Gaston, D., Shi, Y., Aberg, E., Nightingale, M., Jiang, H., Gillett, R. M., Fahiminiya, S., Macgillivray, C., Wood, E. P., Acott, P. D., Khan, M. N., Samuels, M. E., Majewski, J., Orr, A., McMaster, C. R. & Bedard, K., Nov 2013, In: Human Genetics. 132, 11, p. 1223-1234 12 p.

      Research output: Contribution to journal › Article › peer-review

      24 Citations (Scopus)
    • 2011

      Mutations in a novel serine protease prss56 in families with nanophthalmos

      Orr, A., Dubé, M. P., Zenteno, J. C., Jiang, H., Asselin, G., Evans, S. C., Caqueret, A., Lakosha, H., Letourneau, L., Marcadier, J., Matsuoka, M., Macgillivray, C., Nightingale, M., Papillon-Cavanagh, S., Perry, S., Provost, S., Ludman, M., Guernsey, D. L. & Samuels, M. E., 2011, In: Molecular Vision. 17, p. 1850-1861 12 p.

      Medicine

      Research output: Contribution to journal › Article › peer-review

      48 Citations (Scopus)

    • Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

      Guernsey, D. L., Matsuoka, M., Jiang, H., Evans, S., MacGillivray, C., Nightingale, M., Perry, S., Ferguson, M., Leblanc, M., Paquette, J., Patry, L., Rideout, A. L., Thomas, A., Orr, A., McMaster, C. R., Michaud, J. L., Deal, C., Langlois, S., Superneau, D. W., Parkash, S., & 3 othersLudman, M., Skidmore, D. L. & Samuels, M. E., Feb 2011, In: Nature Genetics. 43, 4, p. 360-365 6 p.

      Research output: Contribution to journal › Article › peer-review

      142 Citations (Scopus)
    • 2010

      Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with charcot-marie-tooth disease

      Guernsey, D. L., Jiang, H., Bedard, K., Evans, S. C., Ferguson, M., Matsuoka, M., Macgillivray, C., Nightingale, M., Perry, S., Rideout, A. L., Orr, A., Ludman, M., Skidmore, D. L., Benstead, T. & Samuels, M. E., Aug 2010, In: PLoS Genetics. 6, 8

      Research output: Contribution to journal › Article › peer-review

      Open Access
      61 Citations (Scopus)

    • Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4

      Guernsey, D. L., Jiang, H., Hussin, J., Arnold, M., Bouyakdan, K., Perry, S., Babineau-Sturk, T., Beis, J., Dumas, N., Evans, S. C., Ferguson, M., Matsuoka, M., MacGillivray, C., Nightingale, M., Patry, L., Rideout, A. L., Thomas, A., Orr, A., Hoffmann, I., Michaud, J. L., & 4 othersAwadalla, P., Meek, D. C., Ludman, M. & Samuels, M. E., Jul 9 2010, In: American Journal of Human Genetics. 87, 1, p. 40-51 12 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      163 Citations (Scopus)

    • Novel mutations in the sacsin gene in ataxia patients from Maritime Canada

      Guernsey, D. L., Dubé, M. P., Jiang, H., Asselin, G., Blowers, S., Evans, S., Ferguson, M., Macgillivray, C., Matsuoka, M., Nightingale, M., Rideout, A., Delatycki, M., Orr, A., Ludman, M., Dooley, J., Riddell, C. & Samuels, M. E., Jan 15 2010, In: Journal of the Neurological Sciences. 288, 1-2, p. 79-87 9 p.

      Medicine

      Research output: Contribution to journal › Article › peer-review

      15 Citations (Scopus)
    • 2009

      Application of homozygosity haplotype analysis to genetic mapping with high-density SNP genotype data

      Jiang, H., Orr, A., Guernsey, D. L., Robitaille, J., Asselin, G., Samuels, M. E. & Dubé, M. P., Apr 28 2009, In: PLoS One. 4, 4, e5280.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      20 Citations (Scopus)

    • Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2

      Guernsey, D. L., Jiang, H., Evans, S. C., Ferguson, M., Matsuoka, M., Nightingale, M., Rideout, A. L., Provost, S., Bedard, K., Orr, A., Dubé, M. P., Ludman, M. & Samuels, M. E., Jul 10 2009, In: American Journal of Human Genetics. 85, 1, p. 120-129 10 p.

      Medicine

      Research output: Contribution to journal › Article › peer-review

      Open Access
      77 Citations (Scopus)

    • Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

      Guernsey, D. L., Jiang, H., Campagna, D. R., Evans, S. C., Ferguson, M., Kellogg, M. D., Lachance, M., Matsuoka, M., Nightingale, M., Rideout, A., Saint-Amant, L., Schmidt, P. J., Orr, A., Bottomley, S. S., Fleming, M. D., Ludman, M., Dyack, S., Fernandez, C. V. & Samuels, M. E., Jun 2009, In: Nature Genetics. 41, 6, p. 651-653 3 p.

      Research output: Contribution to journal › Article › peer-review

      209 Citations (Scopus)
    • 2008

      Is gene discovery research or diagnosis?

      Samuels, M. E., Orr, A., Guernsey, D. L., Dooley, K., Riddell, C., Hodgkinson, K., Ludman, M. & Pullman, D., Jun 2008, In: Genetics in Medicine. 10, 6, p. 385-390 6 p.

      Research output: Contribution to journal › Review article › peer-review

      Open Access
      8 Citations (Scopus)
    • 2007

      Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy

      Orr, A., Dubé, M. P., Marcadier, J., Jiang, H., Federico, A., Goerge, S., Seamone, C., Andrews, D., Dubord, P., Holland, S., Provost, S., Mongrain, V., Evans, S., Higgins, B., Bowman, S., Guernsey, D. & Samuels, M., Aug 1 2007, In: PLoS One. 2, 8, e685.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      113 Citations (Scopus)

    • Reply: Loss-of-function genetic diseases and the concept of pharmaceutical targets [2]

      Brinkmann, R. R., Dubé, M. P., Rouleau, G. A., Orr, A. C. & Samuels, M. E., May 2007, In: Nature Reviews Genetics. 8, 5

      Medicine

      Research output: Contribution to journal › Letter › peer-review

      1 Citation (Scopus)
    • 2006

      Canadian Glaucoma Study: 1. Study design, baseline characteristics, and preliminary analyses

      Chauhan, B. C., LeBlanc, R. P., Nicolela, M. T., Rafuse, P. E., Andrews, D. M., Humayun, M., MacNeill, J., Orr, A. C., Quigley, J. H., Sapp, G. A., MacDonald, C. A., Sauveur, H. M., Lavender, S. L., Balazsi, A. G., Kasner, O. P., Saheb, N. E., Coffey, A. J., Connolly, W. E., Discepola, M. J., Kavalec, C. C., & 24 othersLindley, S. K., Mullie, M., Alexander, P., May, B., Douglas, G. R., Drance, S. M., Mikelberg, F. S., Blicker, J. A., Cottle, R. S., Wong, V., Pardhan, Z., Lesk, M. R., Alexander, P., Buys, Y. M., Flanagan, J. G., Trope, G. E., Birt, C. M., Easterbrook, M. W., Macrae, W. G., Markowitz, S. N., Wolpert, M., Eskander, E., Macgillivray, C. & Vassallo, A., Oct 2006, In: Canadian Journal of Ophthalmology. 41, 5, p. 566-575 10 p.

      Medicine

      Research output: Contribution to journal › Article › peer-review

      38 Citations (Scopus)

    • Human monogenic disorders - A source of novel drug targets

      Brinkman, R. R., Dubé, M. P., Rouleau, G. A., Orr, A. C. & Samuels, M. E., Apr 2006, In: Nature Reviews Genetics. 7, 4, p. 249-260 12 p.

      Medicine

      Research output: Contribution to journal › Review article › peer-review

      78 Citations (Scopus)
    • 2001

      Exfoliation syndrome: Clinical and genetic features

      Orr, A. C., Robitaille, J. M., Price, P. A., Hamilton, J. R., Falvey, D. M., De Saint-Sardos, A. G., Pasternak, S. & Guernsey, D. L., 2001, In: Ophthalmic Genetics. 22, 3, p. 171-185 15 p.

      Research output: Contribution to journal › Article › peer-review

      44 Citations (Scopus)
    • 1999

      A novel PAX6 frameshift mutation in a kindred from Atlantic Canada with familial aniridia

      Gupta, S. K., Orr, A., Bulman, D., De Becker, I., Guernsey, D. L. & Neumann, P. E., Oct 1999, In: Canadian Journal of Ophthalmology. 34, 6, p. 330-334 5 p.

      Medicine

      Research output: Contribution to journal › Article › peer-review

      3 Citations (Scopus)
    • 1990

      Use of suprathreshold test data to predict the results of quantitative testing in the nasal periphery

      Orr, A., Rubillowicz, M., LeBlanc, R., Seamone, C. & Mann, C., 1990, In: Canadian Journal of Ophthalmology. 25, 3, p. 133-137 5 p.

      Medicine

      Research output: Contribution to journal › Article › peer-review

      3 Citations (Scopus)
    • 1989

      Causes of presenile cataracts extracted at the Halifax Infirmary Hospital, 1976-85

      Mishra, A. V., Ramsey, M. S. & Orr, A. C., 1989, In: Canadian Journal of Ophthalmology. 24, 3, p. 117-119 3 p.

      Research output: Contribution to journal › Article › peer-review

      6 Citations (Scopus)

    • Efficacy and safety of once-daily levobunolol for glaucoma therapy

      Rakofsky, S. I., Lazar, M., Almog, Y., LeBlanc, R. P., Mann, C., Orr, A., Lee, P. F., Friedland, B. R., Novack, G. D., Kelley, E. P. & Lue, J. C., 1989, In: Canadian Journal of Ophthalmology. 24, 1, p. 2-6 5 p.

      Research output: Contribution to journal › Article › peer-review

      20 Citations (Scopus)
    • 1988

      The value of indices in the central and peripheral visual fields for the detection of glaucoma

      Seamone, C., LeBlanc, R., Rubillowicz, M., Mann, C. & Orr, A., Aug 15 1988, In: American Journal of Ophthalmology. 106, 2, p. 180-185 6 p.

      Medicine

      Research output: Contribution to journal › Article › peer-review

      14 Citations (Scopus)
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