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Associate Professor Robyn Jamieson

Associate Professor
Genetic Medicine, Children's Hospital, Westmead

C29 - Children's Hospital Westmead
The University of Sydney
NSW 2006 Australia

T: +61 2 9845 3273
F: +61 2 9845 3204
E:

Research interests

Dr Jamieson is an expert in the clinical genetics assessment of patients with ocular disorders, molecular genetic techniques and the analysis of mouse models of human disease whose research has led to insight to the genetic bases of hereditary cataracts, glaucoma and microphthalmia.

Her research has led to insight to the genetic bases of hereditary cataracts, glaucoma and microphthalmia.

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Current national competitive grants*

2011

Genomic signposts, high-resolution sequencing and novel genes in eye disease
Jamieson R
National Health and Medical Research Council Project Grant ($322,524 over 3 years)

* Grants administered through the University of Sydney

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Keywords

Molecular biology; Ophthalmology; Genetic diseases; Vision

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Publications

2011 | 2010 | 2009 | 2008 | 2007 | 2006

2011

   
  • Stark, Z., Storen, R., Bennetts, B., Savarirayan, R., Jamieson, R. (2011), Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. European Journal of Human Genetics. 19(7), 753-756. [Abstract]

2010

   
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  • Weaving, L., Mihelec, M., Storen, R., Sosic, D., Grigg, J., Tam, P., Jamieson, R. (2010), Twist2: Role in Corneal Stromal Keratocyte Proliferation and Corneal Thickness. Investigative ophthalmology & visual science. 51(11), 5561-70. [Abstract]
  • Tischfield, M., Baris, H., Wu, C., Rudolph, G., Van Maldergem, L., He, W., Chan, W., Andrews, C., Demer, J., Robertson, R., Mackey, D., Ruddle, J., Bird, T., Gottlob, I., Pieh, C., Traboulsi, E., Pomeroy, S., Hunter, D., Soul, J., Newlin, A., Sabol, L., Doherty, E., de Uzcátegui, C., de Uzcátegui, N., Collins, M., Sener, E., Wabbels, B., Hellebrand, H., Meitinger, T., de Berardinis, T., Magli, A., Schiavi, C., Pastore-Trossello, M., Koc, F., Wong, A., Levin, A., Geraghty, M., Descartes, M., Flaherty, M., Jamieson, R., Møller, H., Meuthen, I., Callen, D., Kerwin, J., Lindsay, S., Meindl, A., Gupta, M., Pellman, D., Engle, E. (2010), Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 140(1), 74-87. [Abstract]

2009

   
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  • Mihelec, M., Abraham, P., Gibson, K., Krowka, R., Susman, R., Storen, R., Chen, Y., Donald, J., Tam, P., Grigg, J., Flaherty, M., Gole, G., Jamieson, R. (2009), Novel SOX2 partner-factor domain mutation in a four-generation family. European journal of human genetics : EJHG. 17(11), 1417-22. [Abstract]
  • Flaherty, M., Balachandran, C., Jamieson, R., Engle, E. (2009), Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. Ophthalmic Genetics. 30(2), 91-95. [Abstract]
  • Sharan, S., Swamy, B., Taranath, D., Jamieson, R., Yu, T., Wargon, O., Grigg, J. (2009), Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome. Journal of American Association for Pediatric Ophthalmology and Strabismus. 13, 374-378. [Abstract]

2008

   
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  • Mihelec, M., St Heaps, L., Flaherty, M., Billson, F., Rudduck, C., Tam, P., Grigg, J., Peters, G., Jamieson, R. (2008), Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma. Twin Research and Human Genetics. 11(4), 412-421. [Abstract]
  • Lewis, S., Khoo, P., De Young, R., Steiner, K., Wilcock, C., Mukhopadhyay, M., Westphal, H., Jamieson, R., Robb, L., Tam, P. (2008), Dkk1 and Wnt3 interact to control head morphogenesis in the mouse. Development (Cambridge). 135(10), 1791-1801. [Abstract]

2007

   
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  • Swamy, B., Billson, F., Martin, F., Donaldson, C., Hing, S., Smith, J., Jamieson, R., Grigg, J. (2007), Secondary glaucoma after paediatric cataract surgery. The British journal of ophthalmology. 91(12), 1627-30. [Abstract]
  • Jamieson, R., Farrar, N., Stewart, K., Perveen, R., Mihelec, M., Carette, M., Grigg, J., McAvoy, J., Lovicu, F., Tam, P., Scambler, P., Lloyd, I., Donnai, D., Black, G. (2007), Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. Human mutation. 28(10), 968-977. [Abstract]
  • Arvind, H., Hunyor, A., McClellan, K., Billson, F., Grigg, J., Jamieson, R. (2007), Management of intraoperative tilting of the scleral-fixated intraocular lens in classical aniridia. The British Journal of Ophthalmology. , 1247-1248. [Abstract]
  • Perveen, R., Favor, J., Jamieson, R., Ray, D., Black, G. (2007), A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation. Human Molecular Genetics. 16(9), 1030-1038. [Abstract]
  • Palmer, S., Tay, E., Santucci, N., Cuc Bach, T., Hook, J., Lemckert, F., Jamieson, R., Gunnning, P., Hardeman, E. (2007), Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development. Gene expression patterns : GEP. 7, 396-404. [Abstract]
  • van Heyningen, V., Williamson, K., Mackey, D., Kearns, L., Hewitt, A., Jamieson, R. (2007), PAX6 mutations may be associated with high myopia. OPHTHALMIC GENETICS. 28(3), 179-182. [Abstract]

2006

   
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  • Nolen, L., Amor, D., Haywood, A., St Heaps, L., Willcock, C., Mihelec, M., Tam, P., Billson, F., Grigg, J., Peters, G., Jamieson, R. (2006), Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. American journal of medical genetics. Part A. 140(16), 1711-8. [Abstract]
  • Willcock, C., Grigg, J., Wilson, M., Tam, P., Billson, F., Jamieson, R. (2006), Congenital iris ectropion as an indicator of variant aniridia. British Journal of Ophthalmology. 90(5), 658-659. [Abstract]