Associate Professor Robyn Jamieson

Associate Professor
Genetic Medicine, Children's Hospital, Westmead

Telephone +61 2 9845 3273
Fax +61 2 9845 3204
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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.

Selected grants

2014

  • Finding Genetics Answers for Leber Congenital Amaurosis Using Next-generation Sequencing; Jamieson R, Grigg J; Retina Australia Incorporated/Research Support.
  • Applying rapid genetic and model systems in eye disease; Jamieson R, Grigg J; Ophthalmic Research Institute of Australia (ORIA)/Research Support.

2013

  • Using the latest techniques to find genetic causes of retinitis pigmentosa; Jamieson R, Grigg J, Lamey T; Ophthalmic Research Institute of Australia (ORIA)/Research Grants.
  • Fluidigm BioMark HD - HX; Alexander I, Jamieson R, Chircop (nee Fabbro) M, Byrne J, Catchpoole D, Reddel R, Tam P, Robinson P, Bryan T, Diefenbach R; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2011

  • Investigation for novel disease genes in cone and rod dystrophies; Grigg J, Jamieson R; Retina Australia Incorporated/Research Support.
  • Genomic signposts, high-resolution sequencing and novel genes in eye disease; Jamieson R; National Health and Medical Research Council (NHMRC)/Project Grants.

2009

  • High resolution genomic techniques for novel gene identification in glaucoma; Jamieson R, Grigg J; Ophthalmic Research Institute of Australia (ORIA)/Research Grant.

2008

  • Ocular developmental disorders: Molecular genetics and gene function; Jamieson R; Ophthalmic Research Institute of Australia (ORIA)/Research Support.

2004

  • Area Health Service contributions to Research only staff; Jamieson R, Sillence D; Children's Hospital at Westmead/Contributions to research positions.

2003

  • Area Health Service contributions to Research only staff; Jamieson R, Sillence D; Children's Hospital at Westmead/Contributions to research positions.

Selected publications

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Book Chapters

  • Jamieson, R., Grigg, J. (2013). Clinical Embryology and Development of the Eye. In Creig S. Hoyt & David Taylor (Eds.), Pediatric Ophthalmology and Strabismus Fourth Edition, (pp. 9-15). Edinburgh: Saunders Elsevier.
  • Gupta, V., Jamieson, R., Schimmenti, L., Grigg, J., Mackey, D. (2013). Genetics. In R. N. Weinreb, A. L. Grajewski, M. Papadopoulos, J. Grigg, S. Freedman (Eds.), Childhood Glaucoma, (pp. 43-60). Amsterdam: Kugler Publications.
  • Grigg, J., Jamieson, R. (2013). Phakomatoses. In Creig S. Hoyt & David Taylor (Eds.), Pediatric Ophthalmology and Strabismus Fourth Edition, (pp. 675-689). Edinburgh: Saunders Elsevier.
  • Grigg, J., Jamieson, R. (2005). Phakomatoses. In David Taylor, Creig S. Hoyt (Eds.), Pediatric Ophthamology and Strabismus - 3rd Edition, (pp. 745-753). United Kingdom: Saunders Elsevier.

Journals

  • Gurbaxani, A., Weible, M., Succar, T., McCluskey, P., Jamieson, R., Grigg, J. (2014). Acetazolamide in Retinoschisis: A Prospective Study. Ophthalmology, 121(3), 802-803. [More Information]
  • Guo, Y., Prokudin, I., Yu, C., Liang, J., Xie, Y., Flaherty, M., Tian, L., Crofts, S., Wang, F., Jamieson, R., et al (2014). Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. Ophthalmic Genetics, Early Online, 1-6. [More Information]
  • Guo, Y., Prokudin, I., Yu, C., Liang, J., Xie, Y., Flaherty, M., Tan, L., Crofts, S., Wang, F., Jamieson, R., et al (2014). Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. Ophthalmic Genetics, February 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 identfication of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. European Journal of Human Genetics, November 27. [More Information]
  • 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. [More Information]
  • Gurbaxani, A., Wei, M., Succar, T., McCluskey, P., Jamieson, R., Grigg, J. (2013). Acetazolamide in Retinoschisis: A Prospective Study. Ophthalmology, 121(3), 802-803. [More Information]
  • 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. [More Information]
  • 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 American Association for Pediatric Ophthalmology and Strabismus, 17(6), 641-643. [More Information]
  • Cederquist, G., Luchniak, A., Tischfield, M., Peeva, M., Song, Y., Menezes, M., Chan, W., Andrews, C., Chew, S., Jamieson, R., Gomes, L., et al (2012). An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Human Molecular Genetics, 21(26), 5484-5499. [More Information]
  • 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. [More Information]
  • Leger, S., Balguerie, X., Goldenberg, A., Drouin-Garraud, V., Cabot, A., Amstutz-Montadert, I., Young, P., Joly, P., Bodereau, V., Holder-Espinasse, M., Jamieson, R., et al (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. [More Information]
  • 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. [More Information]
  • Tischfield, M., Baris, H., Wu, C., Rudolph, G., Van Maldergem, L., He, W., Chan, W., Andrews, C., Demer, J., Jamieson, R., et al (2010). Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance. Cell, 140(1), 74-87. [More Information]
  • 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 and Visual Science, 51(11), 5561-5570. [More Information]
  • 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. [More Information]
  • Mihelec, M., Abraham, P., Gibson, K., Krowka, R., Susman, R., Storen, R., Chen, Y., Donald, J., Tam, P., Flaherty, M., Grigg, J., Jamieson, R., et al (2009). Novel SOX2 partner-factor domain mutation in a four-generation family. European Journal of Human Genetics, 17(11), 1417-1422. [More Information]
  • Sharan, S., Swamy, B., Taranath, A., 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(4), 374-378. [More Information]
  • 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. [More Information]
  • Lewis, S., Khoo, P., Young, A., Steiner, K., Willcock, 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. [More Information]
  • Sharma, S., Burdon, K., Dave, A., Jamieson, R., Yaron, Y., Billson, F., Van Maldergem, L., Lorenz, B., Gécz, J., Craig, J. (2008). Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. Molecular Vision, 14(October, 2008), 1856-1864.
  • 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. [More Information]
  • Jamieson, R., Farrar, N., Stewart, K., Perveen, R., Mihelec, M., Carette, M., Grigg, J., McAvoy, J., Lovicu, F., Tam, P., et al (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. [More Information]
  • Arvind Srinivasan, 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, 91(9), 1247-1248. [More Information]
  • Hewitt, A., Kearns, L., Jamieson, R., Williamson, K., van Heyningen, V., Mackey, D. (2007). PAX6 mutations may be associated with high myopia. Ophthalmic Genetics, 28(3), 179-182.
  • 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(5), 1627-1630. [More Information]
  • Willcock, C., Grigg, J., Wilson, M., Tam, P., Billson, F., Jamieson, R. (2006). Congenital iris ectropion as an indicator of variant aniridia. The British Journal of Ophthalmology, 90(5), 658-659.
  • 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), 1711-1718. [More Information]
  • Palmer, S., Tay, E., Santucci, N., Bach, C., Hook, J., Lemckert, F., Jamieson, R., Gunning, P., Hardeman, E. (2006). Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development. Gene Expression Patterns, 7, 396-404. [More Information]
  • Lyon, M., Jamieson, R., Perveen, R., Glenister, P., Griffiths, R., Boyd, Y., Glimcher, L., Favor, J., Munier, F., Black, G. (2003). A dominant mutation within the DNA-binding domain ofthe bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding. Human Molecular Genetics, 12(6), 585-594.
  • Jamieson, R., Gaunt, L., Donnai, D., Black, G., Kerr, B., Stecko, O. (2003). Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis. The British Journal of Ophthalmology, 87(5), 646-648.
  • Jamieson, R., Munier, F., Balmer, A., Farrar, N., Perveen, R., Black, G. (2003). Purverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. The British Journal of Ophthalmology, 87(4), 411-412.

2014

  • Gurbaxani, A., Weible, M., Succar, T., McCluskey, P., Jamieson, R., Grigg, J. (2014). Acetazolamide in Retinoschisis: A Prospective Study. Ophthalmology, 121(3), 802-803. [More Information]
  • Guo, Y., Prokudin, I., Yu, C., Liang, J., Xie, Y., Flaherty, M., Tian, L., Crofts, S., Wang, F., Jamieson, R., et al (2014). Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. Ophthalmic Genetics, Early Online, 1-6. [More Information]
  • Guo, Y., Prokudin, I., Yu, C., Liang, J., Xie, Y., Flaherty, M., Tan, L., Crofts, S., Wang, F., Jamieson, R., et al (2014). Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. Ophthalmic Genetics, February 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 identfication of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. European Journal of Human Genetics, November 27. [More Information]

2013

  • 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. [More Information]
  • Gurbaxani, A., Wei, M., Succar, T., McCluskey, P., Jamieson, R., Grigg, J. (2013). Acetazolamide in Retinoschisis: A Prospective Study. Ophthalmology, 121(3), 802-803. [More Information]
  • Jamieson, R., Grigg, J. (2013). Clinical Embryology and Development of the Eye. In Creig S. Hoyt & David Taylor (Eds.), Pediatric Ophthalmology and Strabismus Fourth Edition, (pp. 9-15). Edinburgh: Saunders Elsevier.
  • Gupta, V., Jamieson, R., Schimmenti, L., Grigg, J., Mackey, D. (2013). Genetics. In R. N. Weinreb, A. L. Grajewski, M. Papadopoulos, J. Grigg, S. Freedman (Eds.), Childhood Glaucoma, (pp. 43-60). Amsterdam: Kugler Publications.
  • 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. [More Information]
  • Grigg, J., Jamieson, R. (2013). Phakomatoses. In Creig S. Hoyt & David Taylor (Eds.), Pediatric Ophthalmology and Strabismus Fourth Edition, (pp. 675-689). Edinburgh: Saunders Elsevier.
  • 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 American Association for Pediatric Ophthalmology and Strabismus, 17(6), 641-643. [More Information]

2012

  • Cederquist, G., Luchniak, A., Tischfield, M., Peeva, M., Song, Y., Menezes, M., Chan, W., Andrews, C., Chew, S., Jamieson, R., Gomes, L., et al (2012). An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Human Molecular Genetics, 21(26), 5484-5499. [More Information]
  • 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. [More Information]
  • Leger, S., Balguerie, X., Goldenberg, A., Drouin-Garraud, V., Cabot, A., Amstutz-Montadert, I., Young, P., Joly, P., Bodereau, V., Holder-Espinasse, M., Jamieson, R., et al (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. [More Information]

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. [More Information]

2010

  • Tischfield, M., Baris, H., Wu, C., Rudolph, G., Van Maldergem, L., He, W., Chan, W., Andrews, C., Demer, J., Jamieson, R., et al (2010). Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance. Cell, 140(1), 74-87. [More Information]
  • 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 and Visual Science, 51(11), 5561-5570. [More Information]

2009

  • 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. [More Information]
  • Mihelec, M., Abraham, P., Gibson, K., Krowka, R., Susman, R., Storen, R., Chen, Y., Donald, J., Tam, P., Flaherty, M., Grigg, J., Jamieson, R., et al (2009). Novel SOX2 partner-factor domain mutation in a four-generation family. European Journal of Human Genetics, 17(11), 1417-1422. [More Information]
  • Sharan, S., Swamy, B., Taranath, A., 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(4), 374-378. [More Information]

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. [More Information]
  • Lewis, S., Khoo, P., Young, A., Steiner, K., Willcock, 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. [More Information]
  • Sharma, S., Burdon, K., Dave, A., Jamieson, R., Yaron, Y., Billson, F., Van Maldergem, L., Lorenz, B., Gécz, J., Craig, J. (2008). Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. Molecular Vision, 14(October, 2008), 1856-1864.

2007

  • 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. [More Information]
  • Jamieson, R., Farrar, N., Stewart, K., Perveen, R., Mihelec, M., Carette, M., Grigg, J., McAvoy, J., Lovicu, F., Tam, P., et al (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. [More Information]
  • Arvind Srinivasan, 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, 91(9), 1247-1248. [More Information]
  • Hewitt, A., Kearns, L., Jamieson, R., Williamson, K., van Heyningen, V., Mackey, D. (2007). PAX6 mutations may be associated with high myopia. Ophthalmic Genetics, 28(3), 179-182.
  • 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(5), 1627-1630. [More Information]

2006

  • Willcock, C., Grigg, J., Wilson, M., Tam, P., Billson, F., Jamieson, R. (2006). Congenital iris ectropion as an indicator of variant aniridia. The British Journal of Ophthalmology, 90(5), 658-659.
  • 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), 1711-1718. [More Information]
  • Palmer, S., Tay, E., Santucci, N., Bach, C., Hook, J., Lemckert, F., Jamieson, R., Gunning, P., Hardeman, E. (2006). Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development. Gene Expression Patterns, 7, 396-404. [More Information]

2005

  • Grigg, J., Jamieson, R. (2005). Phakomatoses. In David Taylor, Creig S. Hoyt (Eds.), Pediatric Ophthamology and Strabismus - 3rd Edition, (pp. 745-753). United Kingdom: Saunders Elsevier.

2003

  • Lyon, M., Jamieson, R., Perveen, R., Glenister, P., Griffiths, R., Boyd, Y., Glimcher, L., Favor, J., Munier, F., Black, G. (2003). A dominant mutation within the DNA-binding domain ofthe bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding. Human Molecular Genetics, 12(6), 585-594.
  • Jamieson, R., Gaunt, L., Donnai, D., Black, G., Kerr, B., Stecko, O. (2003). Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis. The British Journal of Ophthalmology, 87(5), 646-648.
  • Jamieson, R., Munier, F., Balmer, A., Farrar, N., Perveen, R., Black, G. (2003). Purverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. The British Journal of Ophthalmology, 87(4), 411-412.

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