2025

• Robertson, E., Hetherington, K., Prain, M., Hall, J., Boyd, L., Boyd, R., Shepard, E., Feller, H., Karandrews, S., O'Hare, F., Simunovic, M., Jamieson, R., Ma, A., Gonzalez Cordero, A., et al (2025). Dismantling barriers to research and clinical care for individuals with a vision impairment. Medical Journal of Australia. [More Information]
• Simunovic, M., Moore, A., Grigg, J., Sergouniotis, P., Mahroo, O., Vincent, A., Singh, M., Fischer, M., Edwards, T., Mack, H., Jamieson, R., Gillies, M., Barthelmes, D., et al (2025). The Fight Inherited Retinal Blindness! Project: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease. Retina, 45(2), 286-295. [More Information]

2024

• AlAbdi, L., Jamieson, R., Alkuraya, F., Rahbeeni, Z., Maddirevula, S., Helaby, R., Abdulwahab, F., Khan, A., Riley, L., Alhashem, A., et al (2024). A founder variant expands the phenotype of WNT7B-related PDAC syndrome. Clinical Genetics, 106(1), 66-71. [More Information]
• Leahy, K., Lo Cao, E., Jamieson, R., Grigg, J. (2024). Managing the apparently blind child presenting in the first year of life: A review. Clinical and Experimental Ophthalmology, 52(4), 452-463. [More Information]
• Sakti, D., Cornish, E., Ali, H., Retsas, S., Raza, M., Saakova, N., Carvalho, L., Nash, B., Jamieson, R., Grigg, J. (2024). Natural history and biomarkers of KCNV2-associated retinopathy. Clinical and Experimental Ophthalmology, 52(5), 528-544. [More Information]
• Heath Jeffery, R., Parodi, M., Ziccardi, L., Antonelli, G., Barbano, L., Marques, J., Geada, S., Carvalho, A., Tang, W., Chan, C., Grigg, J., Jamieson, R., Cornish, E., et al (2024). Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients. Investigative Ophthalmology & Visual Science, 65(5), 22. [More Information]

2023

• Scopelliti, A., Jamieson, R., Barnes, E., Nash, B., Rajagopalan, S., Cornish, E., Grigg, J. (2023). A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy. Documenta Ophthalmologica, 147(3), 189-201. [More Information]
• Westhaus, A., Eamegdool, S., Fernando, M., Fuller-Carter, P., Brunet, A., Miller, A., Rashwan, R., Knight, M., Daniszewski, M., Lidgerwood, G., Gonzalez Cordero, A., Jamieson, R., Lisowski, L., et al (2023). AAV capsid bioengineering in primary human retina models. Scientific Reports, 13(1). [More Information]
• Bouasker, S., Patel, N., Greenlees, R., Wellesley, D., Fares Taie, L., Almontashiri, N., Baptista, J., Alghamdi, M., Boissel, S., Martinovic, J., Prokudin, I., Riley, L., Jamieson, R., et al (2023). Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans. Journal of Medical Genetics, 60(3), 294-300. [More Information]
• Kim, H., O'Hara-Wright, M., Kim, D., Loi, T., Lim, B., Jamieson, R., Gonzalez Cordero, A., Yang, P. (2023). Comprehensive characterization of fetal and mature retinal cell identity to assess the fidelity of retinal organoids. Stem Cell Reports, 18(1), 175-189. [More Information]
• Sakti, D., Cornish, E., Fraser, C., Nash, B., Sandercoe, T., Jones, M., Rowe, N., Jamieson, R., Johnson, A., Grigg, J. (2023). Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging. Documenta Ophthalmologica, 146(3), 241-256. [More Information]
• Wood, A., Lim, B., Matthews, J., Karaconji, T., Zagora, S., Jamieson, R., Grigg, J., Jones, M., Rowe, N., Hing, S., Donaldson, C., Smith, J. (2023). Prevalence of Glaucoma Following Paediatric Cataract Surgery in an Australian Tertiary Referral Centre. Clinical Ophthalmology, 17(2171), 2179. [More Information]
• Lo Cao, E., Crofts, S., Geering, K., Jamieson, R., Grigg, J. (2023). Spectrum of ocular disease in children aged between 0 and 3 years at an Australian paediatric tertiary hospital. Clinical and Experimental Ophthalmology, 51(6), 546-558. [More Information]
• Schofield, D., Kraindler, J., Tan, O., Shrestha, R., West, S., Hart, N., Tan, L., Ma, A., Grigg, J., Jamieson, R. (2023). The health care and societal costs of inherited retinal diseases in Australia: a microsimulation modelling study. Medical Journal of Australia, 219(2), 70-76. [More Information]

2022

• Thananjeyan, A., Karaconji, T., Flaherty, M., Zagora, S., Jamieson, R., Grigg, J. (2022). A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveae. Ophthalmic Genetics, 43(5), 709-712. [More Information]
• Sakti, D., Ali, H., Korsakova, M., Saakova, N., Trethowan, N., Fraser, C., Jamieson, R., Cornish, E., Grigg, J. (2022). Electronegative electroretinogram in the modern multimodal imaging era. Clinical and Experimental Ophthalmology, 50(4), 429--440. [More Information]
• Karam, F., Loi, T., Ma, A., Nash, B., Grigg, J., Parekh, D., Riley, L., Farnsworth, E., Bennetts, B., Gonzalez Cordero, A., Jamieson, R. (2022). Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability. Journal of Personalized Medicine, 12(3), 502. [More Information]
• Schofield, D., Kraindler, J., Tan, O., Shrestha, R., Jelovic, D., West, S., Ma, A., Grigg, J., Jamieson, R. (2022). Patient-Reported Health-Related Quality of Life in Individuals with Inherited Retinal Diseases. Ophthalmology Science, 2(1). [More Information]
• O'Shea, R., Ma, A., Jamieson, R., Rankin, N. (2022). Precision medicine in Australia: now is the time to get it right. Medical Journal of Australia, 217(11), 559-563. [More Information]
• Sylvester, D., Chen, Y., Grima, N., Saletta, F., Padhye, B., Bennetts, B., Wright, D., Krivanek, M., Graf, N., Zhou, L., Kirk, J., Latchoumanin, O., Qiao, L., Jamieson, R., Byrne, J., et al (2022). Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancer. Genes Chromosomes and Cancer, 61(2), 81-93. [More Information]
• Mack, H., Britten-Jones, A., McGuinness, M., Chen, F., Grigg, J., Jamieson, R., Edwards, T., De Roach, J., O'Hare, F., Martin, K., et al (2022). Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia. Gene Therapy. [More Information]
• Nash, B., Ma, A., Ho, G., Farnsworth, E., Minoche, A., Cowley, M., Barnett, C., Smith, J., Loi, T., Wong, K., St Heaps, L., Wright, D., Bennetts, B., Grigg, J., Jamieson, R., et al (2022). Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies. International Journal of Molecular Sciences, 23(7), 3905. [More Information]

2021

• Nash, B., Loi, T., Fernando, M., Sabri, A., Robinson, J., Cheng, A., Eamegdool, S., Farnsworth, E., Bennetts, B., Grigg, J., Chung, S., Gonzalez Cordero, A., Jamieson, R. (2021). Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells. Stem Cells International, 2021, 4536382. [More Information]
• Kirk, E., Ong, R., Boggs, K., Hardy, T., Righetti, S., Kamien, B., Roscioli, T., Amor, D., Bakshi, M., Chung, C., Jamieson, R., Ma, A., Wilson, M., Newson, A., et al (2021). Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie’s Mission"). European Journal of Human Genetics, 29(1), 79-87. [More Information]
• Ma, A., Grigg, J., Flaherty, M., Smith, J., Minoche, A., Cowley, M., Nash, B., Ho, G., Gayagay, T., Lai, T., Cheng, A., Martin, F., Bennetts, B., Jamieson, R., et al (2021). Genome sequencing in congenital cataracts improves diagnostic yield. Human Mutation, 42(9), 1173-1183. [More Information]
• Nash, B., Watson, C., Hughes, E., Hou, A., Loi, T., Bennetts, B., Jelovic, D., Polkinghorne, P., Gorbatov, M., Grigg, J., Jamieson, R., et al (2021). Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment. European Journal of Human Genetics, 29(5), 881-886. [More Information]
• Seese, S., Reis, L., Deml, B., Griffith, C., Reich, A., Jamieson, R., Semina, E. (2021). Identification of missense MAB21L1 variants in microphthalmia and aniridia. Human Mutation, 42(7), 877-890. [More Information]
• Sakti, D., Cornish, E., Trethowan, N., Zaheer, A., Retsas, S., Rajagopalan, S., Chung, C., Ewans, L., McCluskey, P., Nash, B., Jamieson, R., Grigg, J. (2021). MERTK retinopathy: biomarkers assessing vision loss. Ophthalmic Genetics, 42(6), 706-716. [More Information]
• Zada, M., Cornish, E., Fraser, C., Jamieson, R., Grigg, J. (2021). Natural history and clinical biomarkers of progression in X-linked retinitis pigmentosa: a systematic review. Acta Ophthalmologica, 99(5), 499-510. [More Information]
• Mack, H., Chen, F., Grigg, J., Jamieson, R., De Roach, J., O'Hare, F., Britten-Jones, A., McGuinness, M., Tindill, N., Ayton, L. (2021). Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey. BMJ Open, 11(6), e048361-1-e048361-9. [More Information]
• Cornish, E., Vaze, A., Jamieson, R., Grigg, J. (2021). The electroretinogram in the genomics era: outer retinal disorders. Eye, 35(9), 2406-2418. [More Information]

2020

• Arsiwalla, T., Cornish, E., Nguyen, P., Korsakova, M., Ali, H., Saakova, N., Fraser, C., Jamieson, R., Grigg, J. (2020). Assessing residual cone function in retinitis pigmentosa patients. Translational Vision Science and Technology, 9(13), 1-12. [More Information]
• Trethowan, N., Ristoldo, F., Nguyen, V., Fraser, C., Invernizzi, A., Jamieson, R., Grigg, J. (2020). Biomarkers in Usher syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings. Documenta Ophthalmologica, 141(3), 205-215. [More Information]
• Grigg, J., Hooper, C., Fraser, C., Cornish, E., McCluskey, P., Jamieson, R. (2020). Outcome measures in juvenile X-linked retinoschisis: A systematic review. Eye, 34(10), 1760-1769. [More Information]
• Schofield, D., Zeppel, M., Staffieri, S., Shrestha, R., Jelovic, D., Lee, E., Jamieson, R. (2020). Preimplantation genetic diagnosis for retinoblastoma survivors: a cost-effectiveness study. Reproductive Biomedicine & Society Online, 10, 37-45. [More Information]
• Ma, A., Yousoof, S., Grigg, J., Flaherty, M., Minoche, A., Cowley, M., Nash, B., Ho, G., Gayagay, T., Lai, T., Cheng, A., Martin, F., Karaconji, T., Enriquez, A., Wilson, M., Bennetts, B., Jamieson, R., et al (2020). Revealing hidden genetic diagnoses in the ocular anterior segment disorders. Genetics in Medicine, 22(10), 1623-1632. [More Information]
• Karaconji, T., Ting, E., Zagora, S., Ardern-Holmes, S., Jamieson, R., Grigg, J. (2020). Surgical treatment for SWS glaucoma: Experience from a tertiary referral pediatric hospital. Journal of Glaucoma, 29(12), 1132-1137. [More Information]

2019

• Williams, L., Javed, A., Sabri, A., Morgan, D., Huff, C., Grigg, J., Heng, X., Khng, A., Hollink, I., Morrison, M., Greenlees, R., Cheng, A., Zheng, L., Gillies, M., Chircop (nee Fabbro), M., Jamieson, R., et al (2019). ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. Genetics in Medicine, 21(9), 2103-2115. [More Information]
• Karaconji, T., Whist, E., Jamieson, R., Flaherty, M., Grigg, J. (2019). Neurofibromatosis Type 1: Review and Update on Emerging Therapies. Asia-Pacific Journal of Ophthalmology, 8(1), 62-72. [More Information]
• Ma, A., Grigg, J., Jamieson, R. (2019). Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis. Human Genetics, 138(8-9), 899-915. [More Information]

2018

• Ma, A., Grigg, J., Prokudin, I., Flaherty, M., Bennetts, B., Jamieson, R. (2018). New mutations in GJA8 expand the phenotype to include total sclerocornea. Clinical Genetics, 93(1), 155-159. [More Information]
• Nash, B., Symes, R., Goel, H., Dinger, M., Bennetts, B., Grigg, J., Jamieson, R. (2018). NMNAT1 variants cause cone and cone-rod dystrophy. European Journal of Human Genetics, 26(3), 428-433. [More Information]

2017

• Grigg, J., Jamieson, R. (2017). Clinical embryology and development of the eye. In Scott R. Lambert, Christopher J. Lyons (Eds.), Taylor and Hoyt's Pediatric Ophthalmology and Strabismus - 5th Edition, (pp. 17-24). Edinburgh: Elsevier. [More Information]
• Grigg, J., Jamieson, R. (2017). Phakomatoses (including the neurofibromatoses). In Scott R. Lambert, Christopher J. Lyons (Eds.), Taylor and Hoyt's Pediatric Ophthalmology and Strabismus - 5th Edition, (pp. 700-714). Edinburgh: Elsevier. [More Information]

2016

• Zheng, L., Do, H., Sandercoe, T., Jamieson, R., Grigg, J. (2016). Changing patterns in paediatric optic atrophy aetiology: 1979 to 2015. Clinical and Experimental Ophthalmology, 44(7), 574-581. [More Information]
• Ewe, S., Jamieson, R., Chang, A. (2016). Masquerade macular exudation in Mallatia Leventinese. Canadian Journal of Ophthalmology, 51(1), e27-e29. [More Information]
• Ma, A., Grigg, J., Ho, G., Prokudin, I., Farnsworth, E., Holman, K., Cheng, A., Billson, F., Martin, F., Fraser, C., Christodoulou, J., Flaherty, M., Bennetts, B., Jamieson, R., et al (2016). Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation Sequencing. Human Mutation, 37(4), 371-384. [More Information]

2015

• Guo, Y., Prokudin, I., Yu, C., Liang, J., Xie, Y., Flaherty, M., Tian, L., Crofts, S., Wang, F., et al, Jamieson, R. (2015). Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. Ophthalmic Genetics, 36(4), 333-338. [More Information]
• Greenlees, R., Mihelec, M., Yousoof, S., Speidel, D., Wu, S., Rinkwitz, S., Prokudin, I., Perveen, R., Cheng, A., Ma, A., Nash, B., Loebel, D., Grigg, J., Tam, P., Becker, T., Jamieson, R., et al (2015). Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. Human Molecular Genetics, 24(20), 5789-5804. [More Information]
• Zagora, S., Funnell, C., Martin, F., Smith, J., Hing, S., Billson, F., Veillard, A., Jamieson, R., Grigg, J. (2015). Primary Congenital Glaucoma outcomes: Lessons from 23 years of follow-up. American Journal of Ophthalmology, 159(4), 788-796.e2. [More Information]
• Nash, B., Wright, D., Grigg, J., Bennetts, B., Jamieson, R. (2015). Retinal dystrophies, genomic applications in diagnosis and prospects for therapy. Translational Pediatrics, 4(2), 139-163. [More Information]
• Prokudin, I., Li, D., He, S., Guo, Y., Goodwin, L., Wilson, M., Rose, L., Tian, L., Chen, Y., Liang, J., Jamieson, R., et al (2015). Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients. Clinical and Experimental Ophthalmology, 43(2), 132-138. [More Information]

2014

• Utami, K., Hillmer, A., Aksoy, I., Chew, E., Teo, A., Zhang, Z., Lee, C., Chen, P., Seng, C., Yousoof, S., Prokudin, I., Jamieson, R., et al (2014). Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders. PloS One, 9(3), 1-10. [More Information]
• 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, 22(7), 907-915. [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 and David Taylor (Eds.), Pediatric Ophthalmology and Strabismus Fourth Edition, (pp. 9-15). Edinburgh: Saunders Elsevier. [More Information]
• 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 and David Taylor (Eds.), Pediatric Ophthalmology and Strabismus Fourth Edition, (pp. 675-689). Edinburgh: Saunders Elsevier. [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]

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, 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. 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. [More Information]
• Swamy, B., Billson, F., Martin, F., Donaldson, C., Hing, S., Smith, J., Jamieson, R., Grigg, J. (2007). Secondary glaucoma after paediatric cataract surgery. 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. British Journal of Ophthalmology, 90(5), 658-659. [More Information]
• 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. [More Information]

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. [More Information]
• 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. British Journal of Ophthalmology, 87(5), 646-648. [More Information]
• 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. British Journal of Ophthalmology, 87(4), 411-412. [More Information]