Finding cures for children's genetic diseases


Eye Genetics Research Group

Recent Publications

  1. Alan S. Ma,1,2,3,4 John R. Grigg,1,5,6 Gladys Ho,3,7 Ivan Prokudin,1 Elizabeth Farnsworth,3,7 Katherine Holman,3,7 Anson Cheng,1 Frank A. Billson,1,6,5 Frank Martin,5,6 Clare Fraser,6 David Mowat,8 James Smith,5 John Christodoulou,3,4
    Maree Flaherty,1,5,6 Bruce Bennetts,3,4,7 and Robyn V. Jamieson 1,2,3,4∗ Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing Human Mutation, Published 23 Dec 2015 
  2. Greenlees R*, Mihelec M*, Yousoof S*, Speidel D, Wu SK, Rinkwitz S, Prokudin I, Perveen R, Cheng A, Ma A, Nash B, Gillespie R, Loebel DA, Clayton-Smith J, Lloyd IC, Grigg JR, Tam PP, Yap AS, Becker TS, Black GC, Semina E, Jamieson RV.  Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. (*Equal first authors)   Human Molecular Genetics, 2015 Jul 30. [Epub ahead of print]  PMID: 26231217
  3.  Prokudin I, Li D, He S, Guo Y, Goodwin L, Wilson M, Rose L, Tian L, Shen Y, Liang J, Keating B, Xu X, Jamieson RV, Hakonarson H.  Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients. Clinical and Experimental Ophthalmology. 2015 Mar;43(2):132-8.  PMID:  25060287
  4. Benjamin M. Nash, Dale C. Wright, John R. Grigg, Bruce Bennetts, Robyn V. Jamieson. Retinal dystrophies, genomic applications in diagnisis and prospects for therapy. Accepted Mar 30, 2015
  5. Utami KH, Hillmer AM, Aksoy I, Chew EGY, Teo ASM, Zhang Z, Lee CWH, Chen PJ, Chan CS, Ariyaratne PN, Rouam SL, Soo LS, Yousoof S, Prokudin I, Peters G, Collins F, Wilson M, Kakakios A, Haddad G, Menuet A, Perche O, Hong ST, Sung KW, Ruan X, Ruan Y, Liu ET, Briault S, Jamieson RV, Davila S, Cacheux V.   Detection of chromosomal breakpoints in patients with developmental delay and speech disorders.  PLoS One, Accepted 5 Feb 2014. PMID: 24603971
  6. Guo Y*, Prokudin I*, Yu C*, Liang J, Xie Y, Flaherty M,  Tan L, Crofts S, Wang F, Snyder J, Donaldson C, Abdel-Magid N, Vazquez L, Keating B, Hakonarson H, Wang J, Jamieson RV. Advantage of whole exome sequencing over allele-specific and targeted segment sequencing, in detection of novel TULP1 mutation in Leber congenital amaurosis.  Ophthalmic Genetics, Accepted 18 Jan 2014. (*Equal first authors)
  7. Prokudin,I., Simons,C., Grigg,J.R., Storen,R., Kumar,V., Phua,Z., Smith,J., Flaherty,M., Davila,S., and Jamieson,R.V. Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.  European Journal of Human Genetics, 2013  Nov 27. [Epub ahead of print]  PMID:  24281366
  8. Gurbaxani,A., Wei,M., Succar,T., McCluskey,P.J., Jamieson,R.V., and Grigg,J.R.  Acetazolamide in retinoschisis: a prospective study.  Ophthalmology 2013.  Dec 2.[Epub ahead of print]  PMID:  24309554
  9. Grigg,J.R., Holder,G.E., Billson,F.A., Korsakova,M., and Jamieson,R.V. The importance of electrophysiology in revealing a complete homozygous deletion of KCNV2. J AAPOS 2013 17: 641-643. PMID: 24210337
  10. Skalicky,S.E., White,A.J., Grigg,J.R., Martin,F., Smith,J., Jones,M., Donaldson,C., Smith,J.E., Flaherty,M., and Jamieson,R.V. Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrumJAMA Ophthalmol. 2013 131: 1517-1524.  PMID: 24177921
  11. Ng WY, Pasutto F, Bardakjian TM, Wilson MJ, Woods G, Schneider A, Mackey D, Grigg JR, Zenker M, Jamieson RV. (2013) A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. Clinical Genetics, 83(2):162-8. PMID: 22283518.
  12. Cederquist G, Luchniak A, Tischfield M, Peeva M, Song Y, Menezes M, Chan W-M, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, 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):5484-99. PMID: 23001566.
  13. Léger S, Balguerie X, Goldenberg A, Drouin-Garraud V, Cabot A, Amstutz-Montadert I, Young P, Joly P, Bodereau V, Holder-Espinasse M, Jamieson RV, 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):584-7. PMID: 22258527.
  14. Stark Z, Storen R, Bennetts B, Savarirayan R, Jamieson RV. (2011) Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.  European Journal of Human Genetics, 19(7):753-6.  PMID: 21326281.
  15. Weaving L*, Mihelec M*, Storen R, Sosic D, Grigg J, Tam P, Jamieson RV. (*equal first authors).  (2010) Twist2 role in corneal stromal keratocyte proliferation and corneal thickness.  Investigative Ophthalmology and Visual Science, 51: 5561-5570.  PMID: 20574024.
  16. Tischfield MA, Baris H, Wu C, Rudolph G, Van Maldergem L, He W, Chan W, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, 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 RV, Moeller H, Meuthen I, Callen D, Kerwin J, Lindsay S, Meindl A, Gupta M, Pellman D, Engle EC.  (2010) Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions and axon guidance. Cell, 140:  74-87. PMID: 20074521.

Key Publications:

  1. Mihelec M, Abraham P, Gibson K, Krowka R, Susman R, Storen R, Chen Y, Donald J, Tam PPL, Grigg JR, Flaherty M, Gole G, Jamieson RV.  (2009) Novel SOX2 partner-factor domain mutation in a four generation family.  European Journal of Human Genetics, 17:  1417-1422. PMID: 19471311.
  2. Lewis SL, Khoo PL, De Young RA, Steiner K, Willcock C, Mukhopadhyay M, Westphal H, Jamieson RV, Robb L, Tam PP. (2008) Dkk1 and Wnt3 interact to control head morphogenesis in the mouseDevelopment. 135(10):1791-801. PMID: 18403408.
  3. Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW, Lovicu FJ, Tam PPL, Scambler P,  Lloyd IC, Donnai D, Black GCM. (2007) Characterisation 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. PMID: 17492639.
  4. Lyon MF*, Jamieson RV*, Perveen R, Glenister PH, Griffiths R, Boyd Y, Glimcher LH, Favor J, Munier F, Black GCM. (2003) A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding. Human Molecular Genetics. 12(6):585-94. PMID: 12620964 *Equal first authors
  5. Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F and Black GCM.  (2002)  Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and colobomaHuman Molecular Genetics  11: 33-42. PMID: 11772997.

Book Chapters and Reviews:

  1. Jamieson RV, Grigg JR.  (2013) Clinical Embryology and Development of the Eye. In Paediatric Ophthalmology and Strabismus 4th Ed  (pp.6-15).  UK, USA, Elsevier Ltd.
  2. Grigg JR, Jamieson RV.  (2013) Phakomatoses. In Paediatric Ophthalmology and Strabismus 4th Ed  (pp.675-690).  UK, USA, Elsevier Ltd.
  3. Gupta V, Jamieson RV, Schimmenti, L, Grigg JR, Mackey D.  (2013) World Glaucoma Association, Childhood Glaucoma Consensus Series 9, Section 3, Genetics.
  4. Mihelec M, St Heaps L, Flaherty M, Billson F, Rudduck C, Tam PPL, Grigg JR, Peters GB, Jamieson RV. (2008) Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma. Twin Research and Human Genetics,  11(4):412-21. PMID: 18637741.