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: Send message

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.

Publications

2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008

2014

   
  • Prokudin, I., Simons, C., Grigg, J., Storen, R., Kumar, V., Phua, Z., Smith, J., Flaherty, M., Davila, S., Jamieson, R. (2014), Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. European Journal of Human Genetics. 22(7), 907-915. [Abstract]
  • Utami, K., Hillmer, A., Aksoy, I., Chew, E., Teo, A., Zhang, Z., Lee, C., Chen, P., Seng, C., Ariyaratne, P., Rouam, S., Soo, L., Yousoof, S., Prokudin, I., Peters, G., Collins, F., Wilson, M., Kakakios, A., Haddad, G., Menuet, A., Perche, O., Tay, S., Sung, K., Ruan, X., Ruan, Y., Liu, E., Briault, S., Jamieson, R., Davila, S., Cacheux, V. (2014), Detection of chromosomal breakpoints in patients with developmental delay and speech disorders. PloS One. 9(3), e90852. [Abstract]

2013

   
  • Gurbaxani, A., Wei, M., Succar, T., McCluskey, P., Jamieson, R., Grigg, J. (2013), Acetazolamide in Retinoschisis: A Prospective Study. Ophthalmology. 121(3), 802-803.e3. [Abstract]
  • Grigg, J., Holder, G., Billson, F., Korsakova, M., Jamieson, R. (2013), The importance of electrophysiology in revealing a complete homozygous deletion of KCNV2. Journal of AAPOS. 17(6), 641-643. [Abstract]
  • Skalicky, S., White, A., Grigg, J., Martin, F., Smith, J., Jones, M., Donaldson, C., Smith, J., Flaherty, M., Jamieson, R. (2013), Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features: Understanding the Spectrum. JAMA Ophthalmology. 131(12), 1517-1524. [Abstract]
  • Ng, W., Pasutto, F., Bardakjian, T., Wilson, M., Watson, G., Schneider, A., Mackey, D., Grigg, J., Zenker, M., Jamieson, R. (2013), A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. Clinical Genetics. 83(2), 162-168. [Abstract]
  • Gupta, V., Jamieson, R., Schimmenti, L., Grigg, J., Mackey, D. (2013), Genetics. In: Childhood Glaucoma. (pp.43-62).Netherlands: Kugler Publications.
  • Grigg, J., Jamieson, R. (2013), Phakomatoses. In: Pediatric Ophthalmology and Strabismus 4th Ed. (pp.675-690).United Kingdom, USA: Elsevier Ltd.
  • Jamieson, R., Grigg, J. (2013), Clinical embryology and development of the eye. In: Pediatric Ophthalmology and Strabismus 4th Ed. (pp.6-15).United Kingdom, USA: Elsevier Ltd.

2012

   
  • Cederquist, G., Luchniak, A., Tischfield, M., Peeva, M., Song, Y., Menezes, M., Chan, W., Andrews, C., Chew, S., Jamieson, R., Gomes, L., Flaherty, M., Grant, P., Gupta, M., Engle, E. (2012), An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Human Molecular Genetics. 21(26), 5484-5499. [Abstract]
  • Léger, S., Balguerie, X., Goldenberg, A., Drouin-Garraud, V., Cabot, A., Amstutz-Montadert, I., Young, P., Joly, P., Bodereau, V., Holder-Espinasse, M., Jamieson, R., Krause, A., Chen, H., Baumann, C., Nunes, L., Dollfus, H., Goossens, M., Pingault, V. (2012), Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes. European Journal of Human Genetics. 20(5), 584-587. [Abstract]
  • Chang, J., Jang, J., Jamieson, R., Grigg, J. (2012), Long-Term Follow-Up Study of Autosomal Dominant Optic Atrophy in an Australian Population. Asia-Pacific Journal of Ophthalmology. 1(2), 88-90.

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

   
  • 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

   
  • 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]
  • 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 the American Association for Pediatric Ophthalmology and Strabismus. 13(4), 374-378. [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

   
  • 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]