• 1683 Citations
  • 18 h-Index
20112020

Research output per year

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Research Output

  • 1683 Citations
  • 18 h-Index
  • 60 Article
  • 1 Comment/debate
2020

An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity

Qassim, A., Souzeau, E., Siggs, O. M., Hassall, M. M., Han, X., Griffiths, H. L., Frost, N. A., Vallabh, N. A., Kirwan, J. F., Menon, G., Cree, A. J., Galanopoulos, A., Agar, A., Healey, P. R., Graham, S. L., Landers, J., Casson, R. J., Gharahkhani, P., Willoughby, C. E., Hewitt, A. W. & 3 others, Lotery, A. J., MacGregor, S. & Craig, J. E., 7 Jan 2020, In : Ophthalmology. 7 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

Strunz, T., Lauwen, S., Kiel, C., International AMD Genomics Consortium (IAMDGC), Burdon, K. P., Hunter, D. J., Souzeau, E., Hall, J., Lake, S., Mackey, D. A. & Craig, J. E., 31 Jan 2020, In : Scientific Reports. 10, 1, 16 p., 1584.

Research output: Contribution to journalArticle

Open Access
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3 Downloads (Pure)

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

Siggs, O. M., Souzeau, E., Taranath, D. A., Dubowsky, A., Chappell, A., Zhou, T., Javadiyan, S., Nicholl, J., Kearns, L. S., Staffieri, S. E., Narita, A., Smith, J. E. H., Pater, J., Hewitt, A. W., Ruddle, J. B., Elder, J. E., Mackey, D. A., Burdon, K. P. & Craig, J. E., 7 Jan 2020, In : Ophthalmology. 127, 6, p. 758-766 9 p.

Research output: Contribution to journalArticle

Open Access
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4 Citations (Scopus)
1 Downloads (Pure)

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

NEIGHBORHOOD Consortium, UK Biobank Eye and Vision Consortium, Craig, J. E., Qassim, A., Hassall, M., Marshall, H., Zhou, T., Siggs, O., Souzeau, E., Ridge, B., Burdon, K. P., Mills, R. A., Landers, J., White, A. J. R., Andrew, N. H., Foster, P. J. & Mackey, D. A., 1 Feb 2020, In : Nature Genetics. 52, 2, p. 160-166 7 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

Siggs, O. M., Awadalla, M., Souzeau, E., Staffieri, S., Kearns, L., Laurie, K., Kuot, A., Qassim, A., Edwards, T. L., Coote, M. A., Mancel, E., Walland, M. J., Dondey, J., Galanopoulous, A., Casson, R. J., Mills, R. A., MacArthur, D. G., Ruddle, J., Burdon, K. & Craig, J. E., May 2020, In : Clinical Genetics. 97, 5, p. 764-769 6 p.

Research output: Contribution to journalArticle

2019

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF

Siggs, O. M., Souzeau, E., Breen, J., Qassim, A., Zhou, T., Dubowsky, A., Ruddle, J. B. & Craig, J. E., 1 Jan 2019, In : Molecular Vision. 25, p. 527-534 8 p.

Research output: Contribution to journalArticle

Open Access
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1 Citation (Scopus)

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Iglesias, A. I., Mishra, A., Vitart, V., Bykhovskaya, Y., Höhn, R., Springelkamp, H., Cuellar-Partida, G., Gharahkhani, P., Bailey, J. N. C., Willoughby, C. E., Li, X., Yazar, S., Nag, A., Khawaja, A. P., Polašek, O., Siscovick, D. S., Mitchell, P. G., Tham, Y. C., Haines, J. L., Kearns, L. S. & 125 others, Hayward, C., Shi, Y., Van Leeuwen, E. M., Taylor, K. D., Wang, J., Rochtchina, E., Attia, J. R., Scott, R. J., Holliday, E. G., Wong, T. Y., Baird, P. N., Xie, J., Inouye, M., Viswanathan, A. C., Sim, X., Bonnemaijer, P. W. M., Rotter, J. I., Martin, N. G., Zeller, T., Mills, R. A. D., Souzeau, E., Staffieri, S. E., Jonas, J. B., Schmidtmann, I., Boutin, T. S., Kang, J., Lucas, S. E. M., Beutel, M. E., Wilson, J. F., Donnelly, P. J., 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., Plomin, R. J., Rautanen, A., Sawcer, S. J., Trembath, R. C., Wood, N. W., Spencer, C. C. A., Band, G., Bellenguez, C., Freeman, C., Hellenthal, G., Giannoulatou, E., Pirinen, M., Pearson, R. D., Strange, A., Su, Z., Vukcevic, D., Langford, C. F., Hunt, S. E., Edkins, S. J., Gwilliam, R. G., Blackburn, H., Bumpstead, S. J., Dronov, S., Gillman, M. W., Gray, E., Hammond, N., Jayakumar, A., McCann, O. T., Liddle, J., Potter, S. C., Ravindrarajah, R. S., Ricketts, M., Waller, M. J., Weston, P., Widaa, S., Whittaker, P., Allingham, R. R., Brilliant, M. H., Budenz, D. L., Christen, W. G., Fingert, J. H., Friedman, D. S., Gaasterland, D. E., Gaasterland, T. M., Hauser, M. A., Kraft, P., Lee, R. K., Lichter, P. R., Liu, Y., Loomis, S. J., Moroi, S. E., Kunkle, B. W., Realini, A. T., Richards, J. E., Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Sit, A. J., Weinreb, R. N., Wollstein, G., Zack, D. J., Zack, D. J., Uitterlinden, A. G., Vithana, E. N., Foster, P. J., Hysi, P. G., Hewitt, A. W., Khor, C. C., Pasquale, L. R., Montgomery, G. W., Klaver, C. C. W., Aung, T., Pfeiffer, N., Mackey, D. A., Hammond, C. J., Cheng, C. Y., Craig, J. E., Rabinowitz, Y. S., Wiggs, J. L., Burdon, K. P., Van Duijn, C. M. & MacGregor, S., 2019, In : Nature Communications. 10, 1, p. 1864-1864 1 p., 1864.

Research output: Contribution to journalArticle

Open Access
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15 Citations (Scopus)
5 Citations (Scopus)

Macular Ganglion Cell–Inner Plexiform Layer Loss Precedes Peripapillary Retinal Nerve Fiber Layer Loss in Glaucoma with Lower Intraocular Pressure

Marshall, H. N., Andrew, N. H., Hassall, M. M., Qassim, A., Souzeau, E., Ridge, B. J., Nguyen, T., Fitzgerald, J. T., Awadalla, M. S., Burdon, K. P., Healey, P. R., Agar, A., Galanopoulos, A., Hewitt, A. W., Graham, S. L., Landers, J. A., Casson, R. J. & Craig, J. E., 2019, (Accepted/In press) In : Ophthalmology. 126, 8, p. 1119-1130 12 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Myocilin Gene Gln368Ter Variant Penetrance and Association with Glaucoma in Population-Based and Registry-Based Studies

Han, X., Souzeau, E., Ong, J. S., An, J., Siggs, O. M., Burdon, K. P., Best, S. J., Goldberg, I., Healey, P. R., Graham, S. L., Ruddle, J. B., Mills, R. A., Landers, J. A., Galanopoulos, A., White, A. J. R., Casson, R. J., Mackey, D. A., Hewitt, A. W., Gharahkhani, P., Craig, J. E. & 1 others, MacGregor, S., 2019, In : JAMA Ophthalmology. 137, 1, p. 28-35 8 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Prevalence of FOXC1 Variants in Individuals with a Suspected Diagnosis of Primary Congenital Glaucoma

Siggs, O. M., Souzeau, E., Pasutto, F., Dubowsky, A., Smith, J. E. H., Taranath, D. A., Pater, J. B., Rait, J. L., Narita, A., Mauri, L., Del Longo, A., Reis, A., Chappell, A. J., Kearns, L. S., Staffieri, S. E., Elder, J. E., Ruddle, J. B., Hewitt, A. W., Burdon, K. P., Mackey, D. A. & 1 others, Craig, J. E., 2019, In : JAMA Ophthalmology. 137, 4, p. 348-355 8 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

Souzeau, E., Dubowsky, A., Ruddle, J. B. & Craig, J. E., 1 Aug 2019, In : Molecular Genetics and Genomic Medicine. 7, 8, e774.

Research output: Contribution to journalArticle

Open Access
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The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

Bombard, Y., Brothers, K. B., Fitzgerald-Butt, S. M., Garrison, N. A., Jamal, L., James, C. A., Jarvik, G. P., McCormick, J. B., Nelson, T. N., Ormond, K. E., Rehm, H. L., Richer, J., Souzeau, E., Vassy, J. L., Wagner, J. K. & Levy, H. P., 2019, In : American Journal of Human Genetics. 104, 4, p. 578-595 18 p.

Research output: Contribution to journalArticle

21 Citations (Scopus)
2018

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

The NEIGHBORHOOD consortium, Allingham, R. R., Brilliant, M., Budenz, D. L., Fingert, J. H., Gaasterland, D., Gaasterland, T., Hark, L., Hauser, M., Igo, Jr., R. P., Kraft, P., Lee, R. K., Lichter, P. R., Liu, Y., Moroi, S., Pericak-Vance, M., Realini, A., Rhee, D., Richards, J. E., Ritch, R. & 7 others, Schuman, J. S., Scott, W. K., Singh, K., Sit, A. J., Vollrath, D., Wollstein, G. & Zack, D. J., 2018, In : Scientific Reports. 8, 1, 12 p., 3124.

Research output: Contribution to journalArticle

Open Access
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8 Citations (Scopus)
1 Downloads (Pure)

DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma

Burdon, K., Awadalla, M. S., Mitchell, P., Wang, J. J., White, A., Keane, M., Souzeau, E., Graham, S. L., Goldberg, I., Healey, P. R., Landers, J., Mills, R. A. D., Best, S., Hewitt, A., Sharma, S. & Craig, J., 2018, In : Ophthalmic Genetics. 39, 2, p. 221-227 7 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

MacGregor, S., Ong, J. S., An, J., Han, X., Zhou, T., Siggs, O. M., Law, M. H., Souzeau, E., Sharma, S. C., Lynn, D. J., Beesley, J., Sheldrick, B., Mills, R. A. D., Landers, J. A., Ruddle, J. B., Graham, S. L., Healey, P. R., White, A. J. R., Casson, R. J., Best, S. J. & 12 others, Grigg, J. R., Goldberg, I., Powell, J. E., Whiteman, D. C., Radford –Smith, G. L., Martin, N. G., Montgomery, G. W., Burdon, K. P., Mackey, D. A., Gharahkhani, P., Craig, J. E. & Hewitt, A. W., 27 Jul 2018, In : Nature Genetics. 50, 8, p. 1067-1071 5 p.

Research output: Contribution to journalArticle

32 Citations (Scopus)

Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy

Souzeau, E., Thompson, J. A., McLaren, T. L., De Roach, J. N., Barnett, C. P., Lamey, T. M. & Craig, J. E., 2018, In : Molecular Vision. 24, p. 478-484 7 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia

Souzeau, E., Rudkin, A., Dubowsky, A., Casson, R., Muecke, J., Mancel, E., Whiting, M., Mills, R., Burdon, K. & Craig, J., 2018, In : Molecular Vision. 24, p. 261-273 13 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent

Lucas, S. E. M., Zhou, T., Blackburn, N. B., Mills, R. A. D., Ellis, J. J., Leo, P. J., Souzeau, E., Ridge, B. J., Charlesworth, J. C., Lindsay, R. G., Craig, J. E. & Kathryn P. Burdon, K. P., 20 Jun 2018, In : PLoS One. 13, 6, p. e0199178 15 p., e0199178.

Research output: Contribution to journalArticle

Open Access
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7 Citations (Scopus)

Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis

Maccora, K., Souzeau, E., Ruddle, J. B. & Craig, J. E., Nov 2018, In : Clinical and Experimental Ophthalmology. 46, 8, p. 962-964 3 p.

Research output: Contribution to journalArticle

2017

Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

Thomson, B., Souma, T., Tompson, S., Onay, T., Kizhatil, K., Siggs, O., Feng, L., Whisenhunt, K., Yanovitch, T., Kalaydjieva, L., Azmanov, D., Finzi, S., Tanna, C., Hewitt, A., Mackey, D., Bradfield, Y., Souzeau, E., Javadiyan, S., Wiggs, J., Pasutto, F. & 6 others, Liu, X., John, S., Craig, J., Jin, J., Young, T. & Quaggin, S., 2017, In : Journal of Clinical Investigation. 127, 12, p. 4421-4436 16 p.

Research output: Contribution to journalArticle

18 Citations (Scopus)

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

Zhou, T., Souzeau, E., Siggs, O., Landers, J., Mills, R., Goldberg, I., Healey, P., Graham, S., Hewitt, A., Mackey, D., Galanopoulos, A., Casson, R., Ruddle, J., Ellis, J., Leo, P., Brown, M., Macgregor, S., Sharma, S., Burdon, K. & Craig, J., 2017, In : Investigative Ophthalmology and Visual Science. 58, 3, p. 1537-1544 8 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)

Erratum: Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants (European Journal of Human Genetics (2017) 25 (839-847) DOI: 10.1038/ejhg.2017.59)

Souzeau, E., Siggs, O. M., Zhou, T., Galanopoulos, A., Hodson, T., Taranath, D., Mills, R. A., Landers, J., Pater, J., Smith, J. E., Elder, J., Rait, J. L., Giles, P., Phakey, V., Staffieri, S. E., Kearns, L. S., Dubowsky, A., Mackey, D. A., Hewitt, A. W., Ruddle, J. B. & 2 others, Burdon, K. P. & Craig, J. E., 1 Nov 2017, In : European journal of human genetics : EJHG. 25, 11, 1 p.

Research output: Contribution to journalComment/debate

Open Access
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1 Citation (Scopus)

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

Aung, T., Ozaki, M., Lee, M., Schloetzer-Schrehardt, U., Thorleifsson, G., Mizoguchi, T., Igo, R., Haripriya, A., Williams, S., Astakhov, Y., Orr, A., Burdon, K., Nakano, S., Mori, K., Abu-Amero, K., Hauser, M., Li, Z., Prakadeeswari, G., Bailey, J., Cherecheanu, A. & 269 others, Kang, J., Nelson, S., Hayashi, K., Manabe, S., Kazama, S., Zarnowski, T., Inoue, K., Irkec, M., Coca-Prados, M., Sugiyama, K., Jarvela, I., Schlottmann, P., Lerner, F., Lamari, H., Nilgun, Y., Bikbov, M., Park, K-H., Cha, S., Yamashiro, K., Zenteno, J., Jonas, J., Kumar, R., Perera, S., Chan, A., Kobakhidze, N., George, R., Vijaya, L., Do, T., Edward, D., de Juan Marcos, L., Pakravan, M., Moghimi, S., Ideta, R., Bach-Holme, D., Kappelgaard, P., Wirostko, B., Thomas, S., Gaston, D., Bedard, K., Greer, W., Yang, Z., Chen, X., Huang, L., Sang, J., Jia, H., Jia, L., Qiao, C., Zhang, H., Liu, X., Zhao, B., Wang, Y., Xu, L., Leruez, S., Reynier, P., Chichua, G., Tabagari, S., Uebe, S., Zenkel, M., Berner, D., Mossbock, 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., Beni, A., 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., Kiuchi, Y., Yanagi, M., 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., Sagong, M., Park, K., Ahn, J., Cruz-Aguilar, M., Ezzouhairi, S., Rafei, A., Chong, Y., Ng, X., Goh, S., Chen, Y., Yong, V., Khan, M., Olawoye, O., Ashaye, A., Ugbede, I., Onakoya, A., Kizor-Akaraiwe, N., Teekhasaenee, C., Suwan, Y., Supakontanasan, W., Okeke, S., Uche, N., Asimadu, I., Ayub, H., Akhtar, F., Kosior-Jarecka, E., Lukasik, U., Lischinsky, I., Castro, V., Perez-Grossmann, R., Sunaric Megevand, G., Roy, S., Dervan, E., Silke, E., Rao, A., Sahay, P., Fornero, P., Cuello, O., Sivori, D., Zompa, T., Mills, R., Souzeau, E., Mitchell, P., Wang, J. J., Hewitt, A., Coote, M., Crowston, J., Astakhov, S., Akopov, E., Emelyanov, A., Vysochinskaya, V., Kazakbaeva, G., Fayzrakhmanov, R., Al-Obeidan, S., Owaidhah, O., Aljasim, L., Chowbay, B., Foo, J-N., Soh, R., Sim, K-S., Xie, Z., Cheong, A., Mok, S., Soo, H., Chen, X., Peh, S. Q., Heng, K., Husain, R., Ho, S-L., Hillmer, A., Cheng, C-Y., Escudero-Domínguez, F., González-Sarmiento, R., Martinon-Torres, F., Salas, A., Pathanapitoon, K., Hansapinyo, L., Wanichwecharugruang, B., Kitnarong, N., Sakuntabhai, A., Nguyn, H., Nguyn, G., Nguyn, T., Zenz, W., Binder, A., Klobassa, D., Hibberd, M., Davila, S., Herms, S., Nothen, M., Moebus, S., Rautenbach, R., Ziskind, A., Carmichael, T., Ramsay, M., Alvarez, L., Garcia, M., González-Iglesias, H., Rodríguez-Calvo, P., Fernández-Vega Cueto, L., Oguz, C., Tamcelik, N., Atalay, E., Batu, B., Aktas, D., Kasim, B., Wilson, R., Coleman, A., Liu, Y., Challa, P., Herndon, L., Kuchtey, R., Kuchtey, J., Curtin, K., Chaya, C., Crandall, A., Zangwill, L., Wong, T., Nakano, M., Kinoshita, S., den Hollander, A., Vesti, E., Fingert, J., Lee, R., Sit, A., Shingleton, B., Wang, N., Cusi, D., Qamar, R., Kraft, P., Pericak-Vance, M., Raychaudhuri, S., Heegaard, S., Kivela, T., Reis, A., Kruse, F., Weinreb, R., Pasquale, L., Haines, J., Thorsteinsdottir, U., Jonasson, F., Allingham, R., Milea, D., Ritch, R., Kubota, T., Tashiro, K., Vithana, E., Michael, S., Topouzis, F., Craig, J., Dubina, M., Sundaresan, P., Stefansson, K., Wiggs, J., Pasutto, F. & Khor, C-C., 2017, In : Nature Genetics. 49, 7, p. 993-1004 12 p.

Research output: Contribution to journalArticle

38 Citations (Scopus)

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

Grassmann, F., Kiel, C., Zimmermann, M., Gorski, M., Grassmann, V., Stark, K., International AMD Genomics Consortium (IAMDGC), Heid, I. & Weber, B., 2017, In : Genome Medicine: medicine in the post-genomic era. 9, 1, 13 p., 29.

Research output: Contribution to journalArticle

Open Access
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27 Citations (Scopus)

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

Souzeau, E., Siggs, O., Zhou, T., Galanopoulos, A., Hodson, T., Taranath, D., Mills, R., Landers, J., Pater, J., Smith, J. E., Elder, J., Rait, J., Giles, P., Phakey, V., Staffieri, S., Kearns, L., Dubowsky, A., Mackey, D., Hewitt, A., Ruddle, J. & 2 others, Burdon, K. & Craig, J., 1 Jun 2017, In : European Journal of Human Genetics. 25, 7, p. 839-847 9 p.

Research output: Contribution to journalArticle

Open Access
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16 Citations (Scopus)

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

Javadiyan, S., Craig, J., Souzeau, E., Sharma, S., Lower, K., Mackey, D., Staffieri, S., Elder, J., Taranath, D., Straga, T., Black, J., Pater, J., Casey, T., Hewitt, A. & Burdon, K., 2017, In : G3: Genes, Genomes, Genetics. 7, 10, p. 3257-3268 12 p.

Research output: Contribution to journalArticle

Open Access
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9 Citations (Scopus)

Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals

Souzeau, E., Tram, K., Witney, M., Ruddle, J., Graham, S., Healey, P., Goldberg, I., Mackey, D., Hewitt, A., Burdon, K. & Craig, J., 2017, In : Ophthalmology. 124, 3, p. 303-309 7 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

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

Cook Bailey, J. N., Souzeau, E., NEIGHBORHOOD Consortium, Zhou, T., Zheng, L., Burdon, K., Hewitt, A., Foster, P., Craig, J. & Mackey, D., 2017, In : Human Molecular Genetics. 26, 2, p. 438-453 16 p.

Research output: Contribution to journalArticle

52 Citations (Scopus)

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

Javadiyan, S., Craig, J., Sharma, S., Lower, K., Casey, T., Haan, E., Souzeau, E. & Burdon, K., 2017, In : BMC Medical Genetics. 18, 1, 6 p., 52.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract

Siggs, O., Javadiyan, S., Sharma, S., Souzeau, E., Lower, K., Taranath, D., Black, J., Pater, J., Willoughby, J., Burdon, K. & Craig, J., 2017, In : European Journal of Human Genetics. 25, 6, p. 711-718 8 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent

Lucas, S., Zhou, T., Blackburn, N., Mills, R., Ellis, J., Leo, P., Souzeau, E., Ridge, B., Charlesworth, J., Brown, M., Lindsay, R., Craig, J. & Burdon, K., 2017, In : Investigative Ophthalmology and Visual Science. 58, 14, p. 6248-6256 9 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Recombinant haplotypes narrow the ARMS2/HTRA1 association signal for age-related macular degeneration

Grassmann, F., Heid, I. M., Weber, B. H. F. & International AMD Genomics Consortium (IAMDGC), 2017, In : Genetics. 205, 2, p. 919-924 6 p.

Research output: Contribution to journalArticle

25 Citations (Scopus)

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs’ endothelial corneal dystrophy in Australian cases

Kuot, A., Hewitt, A., Snibson, G., Souzeau, E., Mills, R., Craig, J., Burdon, K. & Sharma, S., 2017, In : PLoS One. 12, 8, 13 p., e0183719.

Research output: Contribution to journalArticle

6 Citations (Scopus)

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

Zhou, T., Souzeau, E., Sharma, S., Landers, J., Mills, R., Goldberg, I., Healey, P., Graham, S., Hewitt, A., Mackey, D., Galanopoulos, A., Casson, R., Ruddle, J., Ellis, J., Leo, P., Brown, M., Macgregor, S., Lynn, D., Burdon, K. & Craig, J., 2017, In : PLoS One. 12, 3, 18 p., e0172427.

Research output: Contribution to journalArticle

Open Access
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5 Citations (Scopus)
2016

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Souma, T., Tompson, S., Thomson, B., Siggs, O., Kizhatil, K., Yamaguchi, S., Feng, L., Limviphuvadh, V., Whisenhunt, K., Maurer-Stroh, S., Yanovitch, T., Kalaydjieva, L., Azmanov, D., Finzi, S., Mauri, L., Javadiyan, S., Souzeau, E., Zhou, T., Hewitt, A., Kloss, B. & 15 others, Burdon, K., Mackey, D., Allen, K., Ruddle, J., Lim, S-H., Rozen, S., Tran-Viet, K-N., Liu, X., John, S., Wiggs, J., Pasutto, F., Craig, J., Jing, J., Quaggin, S. & Young, T., 2016, In : Journal of Clinical Investigation. 126, 7, p. 2575-2587 13 p.

Research output: Contribution to journalArticle

59 Citations (Scopus)

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma

Souzeau, E., Burdon, K., Ridge, B., Dubowsky, A., Ruddle, J. B. & Craig, J. E., 14 Apr 2016, In : BMC Medical Genetics. 17, 1, 5 p., 30.

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Open Access
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5 Citations (Scopus)
1 Downloads (Pure)

Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration

Cuellar-Partida, G., Craig, J., Burdon, K., Wang, J. J., Vote, B. J., Souzeau, E., McAllister, I., Isaacs, T., Lake, S., Mackey, D., Constable, I., Mitchell, P., Hewitt, A. & Macgregor, S., 2016, In : Scientific Reports. 6, p. e26885 6 p., 26885.

Research output: Contribution to journalArticle

9 Citations (Scopus)

Ethical considerations for the return of incidental findings in ophthalmic genomic research

Souzeau, E., Burdon, K. P., Mackey, D. A., Hewitt, A. W., Savarirayan, R., Otlowski, M. & Craig, J., Jan 2016, In : Translational Vision Science & Technology. 5, 1, p. 1-11 11 p., 3.

Research output: Contribution to journalArticle

Open Access
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6 Citations (Scopus)

Genetic association at the 9p21 glaucoma locus contributes to sex bias in normal-tension glaucoma

Ng, S. K., Burdon, K. P., Fitzgerald, J. T., Zhou, T., Fogarty, R., Souzeau, E., Landers, J., Mills, R. A., Casson, R. J., Ridge, B., Graham, S. L., Hewitt, A. W., Mackey, D. A., Healey, P. R., Wang, J. J., Mitchell, P., MacGregor, S. & Craig, J., 2016, In : Investigative Ophthalmology and Visual Science. 57, 7, p. 3416-3421 6 p.

Research output: Contribution to journalArticle

Open Access
12 Citations (Scopus)

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

EPIC-Norfolk Eye Study, Broadway, D., Chan, M., Garway-Heath, D., Hayat, S., Kerrison, N., Khaw, K-T., Langenberg, C., Luan, J., Luben, R., Scott, R., Wareham, N., Yip, J., Zhao, J. H., ANZRAG Consortium, Sharma, S., Martin, S., Zhou, T., Souzeau, E., Landers, J. & 18 others, Fitzgerald, J., Mills, R., Fogarty, R., Graham, S., Casson, R., Chehade, M., Klebe, S., Ruddle, J., Goldberg, I., White, A., Healey, P., Montgomery, G. W., Martin, N. G., Radford-Smith, G., Whiteman, D., Law, M. H., Brown, M. & Cremin, K., 11 Jan 2016, In : Nature Genetics. 48, 2, p. 189-194 6 p.

Research output: Contribution to journalArticle

105 Citations (Scopus)

Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma

Zhou, T., Souzeau, E., Sharma, S., Siggs, O., Goldberg, I., Healey, P., Graham, S., Hewitt, A., Mackey, D., Casson, R., Landers, J., Mills, R., Ellis, J., Leo, P., Brown, M., Macgregor, S., Burdon, K. & Craig, J., 2016, In : Molecular Genetics and Genomic Medicine. 4, 6, p. 624-633 10 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract

Javadiyan, S., Craig, J., Souzeau, E., Sharma, S., Lower, K., Pater, J., Casey, T., Hodson, T. & Burdon, K., 2016, In : BMC Research Notes. 9, 1, 8 p., 83.

Research output: Contribution to journalArticle

9 Citations (Scopus)
2015

Accurate imputation-based screening of Gln368Ter Myocilin variant in primary open-angle glaucoma

Gharahkhani, P., Burdon, K., Hewitt, A., Law, M., Souzeau, E., Montgomery, G., Radford-Smith, G., Mackey, D., Craig, J. & McGregor, S., 2015, In : Investigative Ophthalmology and Visual Science. 56, 9, p. 5087-5093 7 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., Kim, I. K., Cho, D., Zack, D., Souied, E., Scholl, H. P. N., Bala, E., ELee, K., Hunter, D. J., Sardell, R. J., Mitchell, P. & 142 others, Merriam, J. E., Cipriani, V., Hoffman, J. D., Schick, T., Lechanteur, Y. T. E., Guymer, R. H., Johnson, M. P., Jiang, Y., Stanton, C. M., Buitendijk, G. H. S., Zhan, X., Kwong, A. M., Boleda, A., Brooks, M., Gieser, L., Ratnapriya, R., Branham, K. E., Foerster, J. R., Heckenlively, J. R., Othman, M. I., Vote, B. J., Liang, H. H., Souzeau, E., McAllister, I. L., Isaacs, T., Hall, J., Lake, S., Mackey, D. A., Constable, I. J., Craig, J. E., Kitchner, T. E., Yang, Z., Su, Z., Luo, H., Chen, D., Ouyang, H., Flagg, K., Lin, D., Mao, G., Ferreyra, H., Stark, K., Von Strachwitz, C. N., Wolf, A., Brandl, C., Rudolph, G., Olden, M., Morrison, M. A., Morgan, D. J., Schu, M., Ahn, J., Silvestri, G., Tsironi, E. E., Park, K. H., Farrer, L. A., Orlin, A., Brucker, A., Li, M., Curcio, C. A., Mohand-Sa'd, S., Sahel, J. A., Audo, I., Benchaboune, M., Cree, A. J., Rennie, C. A., Goverdhan, S. V., Grunin, M., Hagbi-Levi, S., Campochiaro, P., Katsanis, N., Holz, F. G., Blond, F., Blanché, H., Deleuze, J. F. O., Igo, R. P., Truitt, B., Peachey, N. S., Meuer, S. M., Myers, C. E., Moore, E. L., Klein, R., Hauser, M. A., Postel, E. A., Courtenay, M. D., Schwartz, S. G., Kovach, J. L., Scott, W. K., Liew, G., Tan, A. G., Gopinath, B., Merriam, J. C., Smith, R. T., Khan, J. C., Shahid, H., Moore, A. T., McGrath, J. A., Laux, R., Brantley, M. A., Agarwal, A., Ersoy, L., Caramoy, A., Langmann, T., Saksens, N. T. M., Jong, E. K., Hoyng, C. B., Cain, M. S., Richardson, A. J., Martin, T. M., Blangero, J., Weeks, D. E., Dhillon, B., Van Duijn, C. M., Doheny, K. F., Romm, J., Klaver, C. C. W., Hayward, C., Gorin, M. B., Klein, M. L., Baird, P. N., Den Hollander, A. I., Fauser, S., WYates, J. R., Allikmets, R., Wang, J. J., Schaumberg, D. A., Klein, B. E. K., Hagstrom, S. A., Chowers, I., Lotery, A. J., Léveillard, T., Zhang, K., Brilliant, M. H., Hewitt, A. W., Swaroop, A., Chew, E. Y., Pericak-Vance, M. A., DeAngelis, M., Stambolian, D., Haines, J. L., Iyengar, S. K., Weber, B. H. F., Abecasis, G. R. & Heid, I. M., 2015, In : Nature Genetics. 48, 2, p. 134-143 10 p.

Research output: Contribution to journalArticle

405 Citations (Scopus)

Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma

Awadalla, M., Fingert, J., Roos, B., Chen, S., Holmes, R., Graham, S., Chehade, M., Galanopolous, A., Ridge, B., Souzeau, E., Zhou, T., Siggs, O., Hewitt, A. W., Mackey, D., Burdon, K. & Craig, J., 2015, In : American Journal of Ophthalmology. 159, 1, p. 124-130 7 p.

Research output: Contribution to journalArticle

40 Citations (Scopus)

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma

Souzeau, E., Hayes, M., Ruddle, J., Elder, J., Staffieri, S., Kearns, L., Mackey, D., Zhou, T., Ridge, B., Burdon, K., Dubowsky, A. & Craig, J., 2015, In : Molecular Vision. 21, p. 160-164 5 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss

Souzeau, E., Hayes, M., Zhou, T., Siggs, O., Ridge, B., Awadalla, M., Smith, J., Ruddle, J., Elder, J., Mackey, D., Hewitt, A., Healey, P., Goldberg, I., Morgan, W., Landers, J., Dubowsky, A., Burdon, K. & Craig, J., 2015, In : JAMA Ophthalmology. 133, 7, p. 826-833 8 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)

Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma.

Souzeau, E., Glading, J., Ridge, B., Wechsler, D., Chehade, M., Dubowsky, A., Burdon, K. & Craig, J., 2015, In : Clinical Genetics. 88, 6, p. 584-588 5 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)