• The University of Western Australia (M576), 35 Stirling Highway,

    6009 Perth

    Australia

  • 431 Citations
  • 10 h-Index
20042019
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Research Output 2004 2019

  • 431 Citations
  • 10 h-Index
  • 20 Article
  • 2 Review article

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

Poulton, C., Pathak, G., Mina, K., Lassman, T., Azmanov, D. N., McCormack, E., Broley, S., Dreyer, L., Gration, D., Taylor, E., OSullivan, M., Siafarikis, A., Ravikumara, M., Dawkins, H., Pachter, N. & Baynam, G., 30 May 2019, In : Gene. 699, p. 110-114 5 p.

Research output: Contribution to journalReview article

Diarrhea
Liver
Exosome Multienzyme Ribonuclease Complex
Genetic Databases
Delayed Diagnosis
1 Citation (Scopus)

Silver Russel syndrome in an aboriginal patient from Australia

Poulton, C., Azmanov, D., Atkinson, V., Beilby, J., Ewans, L., Gration, D., Dreyer, L., Shetty, V., Peake, C., McCormack, E., Palmer, R., Lewis, B., Dawkins, H., Broley, S. & Baynam, G., 1 Dec 2018, In : American Journal of Medical Genetics, Part A. 176, 12, p. 2561-2563 3 p.

Research output: Contribution to journalArticle

Silver-Russell Syndrome
Genetic Databases
Knowledge Bases
Fetal Growth Retardation
Computer Simulation
8 Citations (Scopus)

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

Thomson, B. R., Souma, T., Tompson, S. W., Onay, T., Kizhatil, K., Siggs, O. M., Feng, L., Whisenhunt, K. N., Yanovitch, T. L., Kalaydjieva, L., Azmanov, D. N., Finzi, S., Tanna, C. E., Hewitt, A. W., Mackey, D. A., Bradfield, Y. S., Souzeau, E., Javadiyan, S., Wiggs, J. L., Pasutto, F. & 6 othersLiu, X., John, S. W. M., Craig, J. E., Jin, J., Young, T. L. & Quaggin, S. E., 1 Dec 2017, In : Journal of Clinical Investigation. 127, 12, p. 4421-4436 16 p.

Research output: Contribution to journalArticle

Open Access
Angiopoietin-1
Angiopoietins
Glaucoma
Trabecular Meshwork
Aqueous Humor
37 Citations (Scopus)

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

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

Research output: Contribution to journalArticle

Open Access
Angiopoietins
Glaucoma
Mutation
Anterior Chamber
Intraocular Pressure

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement

Azmanov, D. N., Siira, S. J., Chamova, T., Kaprelyan, A., Guergueltcheva, V., Shearwood, A-M. J., Liu, G., Morar, B., Rackham, O., Bynevelt, M., Grudkova, M., Kamenov, Z., Svechtarov, V., Tournev, I., Kalaydjieva, L. & Filipovska, A., 2016, In : Human Molecular Genetics. 25, 19, p. 4302-4314 13 p.

Research output: Contribution to journalArticle

Projects 2011 2013