Emmanuelle Souzeau

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Dr Emmanuelle Souzeau

 https://orcid.org/0000-0002-2015-6577
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20052025

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  • 2025

    Progress in Translating Glaucoma Genetics Into the Clinic: A Review

    Kolovos, A., Maxwell, G., Souzeau, E. & Craig, J. E., Apr 2025, In: Clinical and Experimental Ophthalmology. 53, 3, p. 246-259 14 p.

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

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    18 Downloads (Pure)
  • 2024

    Childhood glaucoma: Implications for genetic counselling

    Maxwell, G. & Souzeau, E., Nov 2024, In: Clinical Genetics. 106, 5, p. 545-563 19 p.

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

    Open Access
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    1 Citation (Scopus)
    94 Downloads (Pure)

  • Polygenic Risk Scores Driving Clinical Change in Glaucoma

    Kolovos, A., Hassall, M. M., Siggs, O. M., Souzeau, E. & Craig, J. E., Aug 2024, In: Annual review of genomics and human genetics. 25, p. 287-308 22 p.

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

    Open Access
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    4 Citations (Scopus)
    70 Downloads (Pure)
  • 2021

    Risk stratification and clinical utility of polygenic risk scores in ophthalmology

    Qassim, A., Souzeau, E., Hollitt, G., Hassall, M. M., Siggs, O. M. & Craig, J. E., May 2021, In: Translational Vision Science and Technology. 10, 6, 14 p., 14.

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

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    18 Citations (Scopus)
    74 Downloads (Pure)
  • 2020

    Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature

    Shields, M., Craig, J. E., Souzeau, E. & Gupta, A., 3 Jul 2020, In: Ophthalmic Genetics. 41, 4, p. 368-372 5 p.

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

    Open Access
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    3 Citations (Scopus)
    35 Downloads (Pure)
  • 2014

    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

    Springelkamp, H., Höhn, R., Mishra, A., Hysi, P. G., Khor, C. C., Loomis, S. J., Bailey, J. N. C., Gibson, J., Thorleifsson, G., Janssen, S. F., Luo, X., Ramdas, W. D., Vithana, E., Nongpiur, M. E., Montgomery, G. W., Xu, L., Mountain, J. E., Gharahkhani, P., Lu, Y. & Amin, N. & 146 others, Karssen, L. C., Sim, K. S., Van Leeuwen, E. M., Iglesias, A. I., Verhoeven, V. J. M., Hauser, M. A., Loon, S. C., Despriet, D. D. G., Nag, A., Venturini, C., Sanfilippo, P. G., Schillert, A., Kang, J. H., Landers, J., Jonasson, F., Cree, A. J., Van Koolwijk, L. M. E., Rivadeneira, F., Souzeau, E., Jonsson, V., Menon, G., Blue Mountains Eye Study-GWAS groupw, Mitchell, P., Wang, J. J., Rochtchina, E., Attia, J., Scott, R., Holliday, E. G., Baird, P. N., Xie, J., Inouye, M., Viswanathan, A. C., Sim, X., Weinreb, R. N., De Jong, P. T. V. M., Oostra, B. A., Uitterlinden, A. G., Hofman, A., Ennis, S., Thorsteinsdottir, U., Burdon, K. P., Wellcome Trust Case Control Consortium 2 (WTCCC2), Allingham, R. R., Brilliant, M. H., Budenz, D. L., Christen, W. G., Fingert, J., Friedman, D. S., Gaasterland, D., Gaasterland, T., Haines, J. L., NEIGHBORHOOD Consortium, Kang, J. H., Kraft, P., Lee, R. K., Lichter, P. R., Liu, Y., Moroi, S. E., Pericak-Vance, M. A., Realini, A., Richards, J. E., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Wollstein, G., Zack, D. J., Zhang, K., Barroso, I., Blackwell, J. M., Bramon, E., Brown, M. A., Casas, J. P., Corvin, A., Deloukas, P., Duncanson, A., Jankowski, J., Markus, H. S., Mathew, C. G., Palmer, C. N. A., Plomin, R., Rautanen, A., Sawcer, S. J., Trembath, R. C., Viswanathan, A. C., Wood, N. W., Spencer, C. C. A., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Giannoulatou, E., Pirinen, M., Pearson, R., Strange, A., Su, Z., Vukcevic, D., Donnelly, P., Langford, C., Hunt, S. E., Edkins, S., Gwilliam, R., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M., Gray, E., Hammond, N., Jayakumar, A., McCann, O. T., Liddle, J., Potter, S. C., Ravindrarajah, R., Ricketts, M., Waller, M., Weston, P., Widaa, S., Whittaker, P., Spector, T. D., Mirshahi, A., Saw, S. M., Vingerling, J. R., Teo, Y. Y., Wolfs, R. C. W., Lemij, H. G., Tai, E. S., Jansonius, N. M., Jonas, J. B., Cheng, C. Y., Aung, T., Klaver, C. C. W., Craig, J. E., MacGregor, S., MacKey, D. A., Lotery, A. J., Stefansson, K., Bergen, A. A. B., Young, T. L., Wiggs, J. L., Pfeiffer, N., Wong, T. Y., Pasquale, L. R., Hewitt, A. W., Van Duijn, C. M. & Hammond, C. J., 22 Sept 2014, In: Nature Communications. 5, 4883, 7 p., 5883.

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

    Open Access
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    86 Citations (Scopus)
    52 Downloads (Pure)