Finding cures for children's genetic diseases

Publications

Eye Genetics Research Group
 


Recent Publications:
 

  1. Williams LB#, Javed A#, Sabri A#, Morgan DJ#, Huff CD, Grigg JR, Ting Heng X, Khng A, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Sen HN, Zein WM, Rodgers G, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies M, von Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre K, Jamieson RV##, DeAngelis MM##  ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. # Equal First Authors; ##Equal Last Authors,  Genetics in Medicine, 2019, Apr 10. Epub ahead of print. . PMID: 30967659

  2. Ma AS, Grigg JR, Jamieson RV.  Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis. Human Genetics, 2018, Sep 21. Epub ahead of print. PMID: 30242500

  3. Sylvester D, Chen Y, Jamieson RV, Dalla-Pozza L, Byrne JA. Investigation of clinically relevant germline variants detected by next generation sequencing in childhood cancer patients. Journal of Medical Genetics. 2018 Dec;55(12):785-793. PMID: 30287599

  4. Nash BM, Symes R, Goel H, Dinger ME, Bennetts B, Grigg JR, Jamieson RV. NMNAT1 variants cause cone and cone-rod dystrophy. European Journal of Human Genetics, 2018, Mar;26(3):428-433. Epub 2017 Nov 28. PMID: 29184169

  5. Ma AS, Grigg JR, Prokudin I, Flaherty M, Bennetts B, Jamieson RV.  New mutations in GJA8 expand the phenotype to include total sclerocornea. Clinical Genetics, 2018 Jan;93(1):155-159. Epub 2017 Sep 8. PMID: 28455998.  

  6. Ma AS, Grigg JR, Ho G, Prokudin I , Farnsworth E, Holman K, Cheng A, Billson FA, Martin F, Fraser C, Mowat D, Smith J, Christodoulou J, Flaherty M, Bennetts B, Jamieson RV.  Sporadic and familial congenital cataracts: mutational spectrum and new diagnoses using next-generation sequencing. Human Mutation, 2016 Apr;37(4):371-84. PMID:  26694549 

  7. Zheng L, Do H, Sandercoe T, Jamieson R, Grigg J.  Changing patterns in paediatric optic atrophy aetiology: 1979 to 2015. Clinical and Experimental Ophthalmology, 2016 Sep;44(7):574-581. PMID: 26929016

  8. Ewe SYP, Jamieson RV, Chang AA.  Masquerade macular exudation in Mallatia Leventinese. Canadian Journal of Ophthalmology, 2016, Feb; 51 (1):e27-29. PMID:  26874169

  9. 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; 24(20): 5789-5804.  PMID: 26231217

  10. Nash BM, Wright DC, Grigg JR, Bennetts B, Jamieson RV.  Retinal dystrophies, genomic applications in diagnosis and prospects for therapy.  Translational Pediatrics. 2015; 4(2): 139-163. PMID: 26835369

  11. Zagora SL, Funnell CL, Martin FJ, Smith JEH, Hing S, Billson FA, Veillard A, Jamieson RV, Grigg JR.  Primary congenital glaucoma outcomes: lessons from 23 years of follow-up.  American Journal of Ophthalmology, 2015 Apr;159(4):788-96. PMID: 25634533

  12. 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

  13. 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. 2014 Mar 6;9(3):e90852.  PMID:  24603971

  14. 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.  2015;36(4):333-8. 2014 Feb 19 [Epub ahead of print] (*Equal first authors)  PMID:  24547928 

  15. Gurbaxani A, Wei M, Succar T, McCluskey PJ, Jamieson RV, Grigg JR.  Acetazolamide in retinoschisis: a prospective study.  Ophthalmology.  2014 Mar 121 (3) 802-3.   PMID: 24309554.

  16. Grigg JR, Holder GE, Billson FA, Korsakova M, Jamieson RV.  The importance of electrophysiology in a child with poor vision and nystagmus from infancy, in revealing a complete homozygous deletion of KCNV2.   Journal of the American Association for Pediatric Ophthalmology and Strabismus.  2013. Dec 17 (6): 641-3.  PMID:  24210337.

  17. Skalicky SE, White AJ, Grigg JR, Martin F, Smith J, Jones M, Donaldson C, Smith JE, Flaherty M, Jamieson RV.  Microphthalmia, anophthalmia, coloboma and associated ocular and systemic features:  understanding the spectrum.  JAMA Ophthalmology.  2013. Dec 131 (12) 1517-24.PMID:  24177921.

  18. Prokudin I, Simons C, Grigg JR, Storen R, Kumar V, Phua Z, Smith J, Flaherty M, Davila S, Jamieson RV.  Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.  European Journal of Human Genetics. 2014 Jul;22 (7): 907-15.  Epub 27 November 2013.  PMID:   24281366.  

  19. Ng WY, Pasutto F, Bardakjian TM, Wilson MJ, Woods G, Schneider A, Mackey D, Grigg JR, Zenker M, Jamieson RV.  A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.   Clinical Genetics, 2013 Feb;83(2):162-8.  PMID: 22283518.
 
 
Key Publications:
 
  1. Stark Z, Storen R, Bennetts B, Savarirayan R, Jamieson RV.  Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.  European Journal of Human Genetics, 2011 Jul;19(7):753-6. PMID:  21326281

  2. 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.  Novel SOX2 partner-factor domain mutation in a four generation family.  European Journal of Human Genetics, 2009, 17:  1417-1422 

  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. 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, 2007, 28 (10): 968-977.

  4. Lyon MF*, Jamieson RV*, Perveen R, Glenister PH, Griffiths R, Boyd Y, Glimcher LH, Favor J, Munier F, Black GCM.  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. 2003 Mar 15;12(6):585-94. *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.  Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.  Human Molecular Genetics  2002 11: 33-42.
 
 
Book Chapters and Reviews:
  1. Karaconji T, Whist E, Jamieson RV, Flaherty MP, Grigg JR. Neurofibromatosis Type 1: review and update on emerging therapies. Asia-Pacific Journal of Ophthalmology, 2019 Jan-Feb;8(1):62-72. PMID: 30387339 

  2. Grigg JR, Jamieson RV. Clinical embryology and development of the eye. In: Lambert SR, Lyons CJ, editors. Taylor and Hoyt's Pediatric Ophthamology and Strabismus. Fifth ed. London: Elsevier; 2017. p. 17-24. 

  3. Grigg JR, Jamieson RV. Phakomatoses (including the neurofibromatoses). In: Lambert SR, Lyons CJ, editors. Taylor and Hoyt's Pediatric Ophthalmology and Strabismus. Fifth ed. London: Elsevier; 2017. p. 700-14. 

  4. Gupta V, Jamieson RV, Schimmenti, L, Grigg JR, Mackey D.  2013. Genetics. In: Childhood Glaucoma. (pp.43-62).Netherlands: Kugler Publications.

  5. Mihelec M, St Heaps L, Flaherty M, Billson F, Rudduck C, Tam PPL, Grigg JR, Peters GB, Jamieson RV.  Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.    Twin Research and Human Genetics,  2008, Aug;11(4):412-21.