Finding cures for children's genetic diseases


Eye Genetics Research Group

1.    Ma AS, Yousoof S, Grigg JR, Flaherty M, Minoche AE, Cowley M, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Fisk K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Karaconji T, Elder JE, Enriquez A, Wilson M, Amor D, Stutterd CA, Kamien B, Nelson J, Dinger ME, Bennetts B, Jamieson RV.  Revealing hidden genetic diagnoses in the ocular anterior segment disorders. Genetics in Medicine, 2020, Jun 5. PMID: 32499604. 

2.    Kirk EP, Ong R, Boggs K, Hardy T, Righetti S, Kamien B, Roscioli T, Amor D, Bakshi M, Chung C, Colley A, Jamieson RV, Liebelt J, Ma A, Pachter N, Rajogopalan S, Ravine A, Wilson M, Caruana J, Archibald A, Casella R, Davis M, Edwards S, McGaughran J, Newson A, Laing N, Delatycki M. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”). European Journal of Human Genetics, 2020, Jul 16. PMID: 32678339

3.    Mustafic N, Ristoldo F, Nguyen V, Fraser CL, Invernizzi A, Jamieson RV, Grigg JR. Biomarkers in Usher Syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings. Documenta Ophthalmologica. 2020 Apr 2. PMID: 32240425.

4.    Karaconji T, Ting R, Zagora S, Arden Holmes S, Jamieson RV, Grigg JR. Effectiveness of treatment for glaucoma in Sturge-Weber syndrome: experience from a tertiary referral paediatric hospital. The Journal of Glaucoma, Accepted 30 July 2020.

5.    Ma A, Nash B, Grigg JR, Jamieson RV. Genomics of Vision. In: Gabbett M, Raz M, editors. Genetics for Physicians. Accepted 30 June 2020.

6.    Schofield D, Zeppel MJB, Staffieri S, Shrestha RN, Jelovic D, Lee E, Jamieson RV. Cost effectiveness of the use of preimplantation genetic diagnosis for retinoblastoma survivors. Reproductive Biomedicine and Society Online, 2020, 10:37-45.  PMID:32577540.

7.    Grigg JR, Fraser CL, Hooper CY, Cornish EE, McCluskey PJ, Jamieson RV. Outcome measures in Juvenile X-linked Retinoschisis: A systematic review. Eye (Lond). 2020 Apr 20. PMID: 32313171. 

8.    Watson CJG, Nash BN, Loi TH, Grigg JR, Jamieson RV. Genetic variants and impact in PDE6B rod-cone dystrophy. In: Prakash G, Iwata T, editors. Advances in Vision Research, Volume III – Genetic Eye Research around the Globe, Accepted, 6 June 2019. 

9.    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, Sep;21(9):2103-2115. Epub 2019 Apr 10. PMID: 30967659

10.    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

11.    Ma AS, Grigg JR, Jamieson RV.  Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis. Human Genetics, 2019, Sep; 138(8-9):899-915. Epub 2018 Sep 21. Epub ahead of print. PMID: 30242500

12.    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

13.    Shaaban S, MacKinnon S, Andrews C, Staffieri SE, Maconachie GD, Chan W-M, Whitman, MC, Morton SU, Yazar S, MacGregor S, Elder JE, Traboulsi EI, Gottlob I, Hewitt AW, Strabismus Genetics Research Consortium (Jamieson RV), Hunter DG, Mackey DA, Engle EC. Investigative Ophthalmology and Visual Science, 2018, August; 59 (10): 4054-4064. PMID: 30098192

14.    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

15.    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.  

16.    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. 

17.    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.

18.    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

19.    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

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

21.    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

22.    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

23.    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

24.    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