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• 2017

  Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome

  Yazar, S., Franchina, M., Craig, J. E., Burdon, K. P. & Mackey, D. A., 2017, In : Ophthalmic Genetics. 38, 2, p. 171-174 4 p.

  Research output: Contribution to journal › Article

  Open Access

  • Hyperferritinemia, hereditary, with congenital cataracts
  • Apoferritins
  • Mutation
  • Ferritins
  • Genes
  2 Citations (Scopus)

• Genome-wide association shows that pigmentation genes play a role in skin aging

  Law, M. H., Medland, S. E., Zhu, G., Yazar, S., Viñuela, A., Wallace, L., Shekar, S. N., Duffy, D. L., Bataille, V., Glass, D., Spector, T. D., Wood, D., MuTHER Consortium, Gordon, S. D., Barbour, J. M., Henders, A. K., Hewitt, A. W., Montgomery, G. W., Sturm, R. A., Mackey, D. A. & 3 others, Green, A. C., Martin, N. G. & MacGregor, S., Sep 2017, In : Journal of Investigative Dermatology. 137, 9, p. 1887-1894

  Research output: Contribution to journal › Article

  • Skin Aging
  • Genes
  • Skin
  • Genome
  • Pigmentation
  19 Citations (Scopus)

• Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study

  Cuellar-Partida, G., Williams, K. M., Yazar, S., Guggenheim, J. A., Hewitt, A. W., Williams, C., Wang, J. J., Kho, P-F., Saw, S. M., Cheng, C. Y., Wong, T. Y., Aung, T., Young, T. L., Tideman, J. W. L., Jonas, J. B., Mitchell, P., Wojciechowski, R., Stambolian, D., Hysi, P. G., Hammond, C. J. & 4 others, Mackey, D. A., Lucas, R. M., MacGregor, S. & Consortium for Refractive Error and Myopia (CREAM), 1 Dec 2017, In : International Journal of Epidemiology. 46, 6, p. 1882–1890

  Research output: Contribution to journal › Article

  Open Access

  File

  • Refractive Errors
  • Myopia
  • Random Allocation
  • Vitamin D
  • Genome-Wide Association Study
  24 Citations (Scopus)

  202 Downloads (Pure)

• A NOVEL METHOD OF MEASURING CONJUNCTIVAL ULTRAVIOLET AUTOFLUORESCENCE AREA

  Lingham, G., Burton, A., Brown, H. A., Huynh, E., Coroneo, M. T., Yazar, S. & Mackey, D. A., Oct 2017, In : Clinical & Experimental Ophthalmology. 45, p. 63-63 1 p.

  Research output: Contribution to journal › Abstract/Meeting Abstract

• New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

  Springelkamp, H., Iglesias, A. I., Mishra, A., Höhn, R., Wojciechowski, R., Khawaja, A. P., Nag, A., Wang, Y. X., Wang, J. J., Cuellar-Partida, G., Gibson, J., Bailey, J. N. C., Vithana, E. N., Gharahkhani, P., Boutin, T., Ramdas, W. D., Zeller, T., Luben, R. N., Yonova-Doing, E., Viswanathan, A. C. & 63 others, Yazar, S., Cree, A. J., Haines, J. L., Koh, J. Y., Souzeau, E., Wilson, J. F., Amin, N., Müller, C., Venturini, C., Kearns, L. S., Kang, J. H., Tham, Y. C., Zhou, T., Van Leeuwen, E. M., Nickels, S., Sanfilippo, P., Liao, J., van der Linde, H., Zhao, W., van Koolwijk, L. M. E., Zheng, L., Rivadeneira, F., Baskaran, M., Van Der Lee, S. J., Perera, S., de Jong, P. T. V. M., Oostra, B. A., Uitterlinden, A. G., Fan, Q., Hofman, A., Tai, E-S., Vingerling, J. R., Sim, X., Wolfs, R. C. W., Teo, Y. Y., Lemij, H. G., Khor, C. C., Willemsen, R., Lackner, K. J., Aung, T., Jansonius, N. M., Montgomery, G. W., Wild, P. S., Young, T. L., Burdon, K. P., Hysi, P. G., Pasquale, L. R., Wong, T. Y., Klaver, C. C. W., Hewitt, A. W., Jonas, J. B., Mitchell, P., Lotery, A. J., Foster, P. J., Vitart, V., Pfeiffer, N., Craig, J. E., Mackey, D. A., Hammond, C. J., Wiggs, J. L., Cheng, C. Y., van Duijn, C. M. & MacGregor, S., 15 Jan 2017, In : Human Molecular Genetics. 26, 2, p. 438-453 16 p.

  Research output: Contribution to journal › Article

  Open Access

  File

  • Open Angle Glaucoma
  • Optic Disk
  • Intraocular Pressure
  • Meta-Analysis
  • Genetic Variation
  62 Citations (Scopus)

  263 Downloads (Pure)