Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases

2025

Derivation of two induced pluripotent stem cell lines from a healthy control subject

Zhang, D., Huang, D., Larcher, L. M., Zaw, K., Chen, S.-C., Jennings, L., Lamey, T. M., Thompson, J. A., Mclaren, T. L., Chen, F. K. & Mclenachan, S., Feb 2025, In: Stem Cell Research. 82, 5 p., 103621.

Research output: Contribution to journal › Article › peer-review

Open Access

2024

Analysis of the Outer Retinal Bands in ABCA4 and PRPH2-Associated Retinopathy using OCT

Heath Jeffery, R. C., Lo, J., Thompson, J. A., Lamey, T. M., McLaren, T. L., De Roach, J. N., Ayton, L. N., Vincent, A. L., Sharma, A. & Chen, F. K., Feb 2024, In: Ophthalmology Retina. 8, 2, p. 174-183 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Citations (Scopus)

A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31

Grainok, J., Pitout, I. L., Chen, F. K., McLenachan, S., Heath Jeffery, R. C., Mitrpant, C. & Fletcher, S., 16 Mar 2024, In: International Journal of Molecular Sciences. 25, 6, 19 p., 3391.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

Establishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant

Zhang, D., Jennings, L., Chen, S. C., Zaw, K., Lamey, T. M., Thompson, J. A., McLaren, T. L., Chen, F. K. & McLenachan, S., Aug 2024, In: Stem Cell Research. 78, 5 p., 103461.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant

Wong, E. Y. M., Khoh, X. E., Chen, S. C., Lye, J., Leith, F. K., Zhang, D., Lamey, T. M., Thompson, J. A., McLaren, T. L., Atlas, M. D., Chen, F. K. & McLenachan, S., Sept 2024, In: Stem Cell Research. 79, 4 p., 103492.

Research output: Contribution to journal › Article › peer-review

Open Access

Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study

Ramakrishnan, P., Kenworthy, M. K., Alexis, J. A., Thompson, J. A., Lamey, T. M. & Chen, F. K., Oct 2024, In: Documenta Ophthalmologica. 149, 2, p. 115-123 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Rapid Variant Pathogenicity Analysis by CRISPR Activation of CRB1 Gene Expression in Patient-Derived Fibroblasts

Moon, S. Y., Zhang, D., Chen, S. C., Lamey, T. M., Thompson, J. A., McLaren, T. L., Chen, F. K. & McLenachan, S., Apr 2024, In: CRISPR Journal. 7, 2, p. 100-110 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Citations (Scopus)

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

Heath Jeffery, R. C., Thompson, J. A., Lo, J., Chelva, E. S., Armstrong, S., Pulido, J. S., Procopio, R., Vincent, A. L., Bianco, L., Battaglia Parodi, M., Ziccardi, L., Antonelli, G., Barbano, L., Marques, J. P., Geada, S., Carvalho, A. L., Tang, W. C., Chan, C. M., Boon, C. J. F. & Hensman, J. & 22 others, Chen, T.-C., Lin, C.-Y., Chen, P.-L., Vincent, A., Tumber, A., Heon, E., Grigg, J. R., Jamieson, R. V., Cornish, E. E., Nash, B. M., Borooah, S., Ayton, L. N., Britten-Jones, A. C., Edwards, T. L., Ruddle, J. B., Sharma, A., Porter, R. G., Lamey, T. M., McLaren, T. L., McLenachan, S., Roshandel, D. & Chen, F. K., 1 May 2024, In: Investigative ophthalmology & visual science. 65, 5, 17 p., 22.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Citations (Scopus)

2023

Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy

Heath Jeffery, R. C., Thompson, J. A., Lamey, T. M., McLaren, T. L., De Roach, J. N., McAllister, I. L., Constable, I. J. & Chen, F. K., Jan 2023, In: Ophthalmology Retina. 7, 1, p. 81-91 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Citations (Scopus)

Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers

Roshandel, D., Lamey, T. M., Charng, J., Heath Jeffery, R. C., McLaren, T. L., Thompson, J. A., De Roach, J. N., McLenachan, S., Mackey, D. A. & Chen, F. K., Jan 2023, In: Investigative ophthalmology & visual science. 64, 1, p. 3 12 p., 3.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

Mitochondrial Dysfunction and Impaired Antioxidant Responses in Retinal Pigment Epithelial Cells Derived from a Patient with RCBTB1-Associated Retinopathy

Huang, Z., Zhang, D., Chen, S. C., Huang, D., Mackey, D., Chen, F. K. & McLenachan, S., May 2023, In: Cells. 12, 10, 1358.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Citations (Scopus)

Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia

Mack, H. G., Britten-Jones, A. C., McGuinness, M. B., Chen, F. K., Grigg, J. R., Jamieson, R. V., Edwards, T. L., De Roach, J., O'Hare, F., Martin, K. R. & Ayton, L. N., Apr 2023, In: Gene Therapy. 30, 3-4, p. 336-346 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

9 Citations (Web of Science)

2022

Anti-retinal IgG antibodies in patients with early and advanced type 2 macular telangiectasia

McLenachan, S., Balaratnasingam, C., Heath Jeffery, R. C., Chen, S. C., Zhang, D., Chan, G., Dolz-Marco, R., Bacci, T., Lo, J., Wiffen, S., Yannuzzi, L. A. & Chen, F. K., May 2022, In: Experimental Eye Research. 218, 109024.

Research output: Contribution to journal › Article › peer-review

Open Access

Characterising splicing defects of ABCA4 variants within exons 13–50 in patient-derived fibroblasts

Huang, D., Thompson, J. A., Chen, S. C., Adams, A., Pitout, I., Lima, A., Zhang, D., Jeffery, R. C. H., Attia, M. S., McLaren, T. L., Lamey, T. M., De Roach, J. N., McLenachan, S., Aung-Htut, M. T., Fletcher, S., Wilton, S. D. & Chen, F. K., Dec 2022, In: Experimental Eye Research. 225, 9 p., 109276.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Citations (Scopus)

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study

Kuht, H. J., Maconachie, G. D., Han, J., Kessel, L., Van Genderen, M. M., McLean, R. J., Hisaund, M., Tu, Z., Hertle, R. W., Gronskov, K., Bai, D., Wei, A., Li, W., Jiao, Y., Smirnov, V., Choi, J.-H., Tobin, M. D., Sheth BMedSci, V., Purohit, R. & Dawar, B. & 19 others, Girach, A., Strul, S., May, L., Chen, F. K., Heath Jeffery, R. C., Aamir, A., Sano, R., Jin, J., Brooks, B. P., Kohl, S., Arvelier, B., Montoliu, L., Engle, E. C., Proudlock, F. A., Nishad, G., Pani, P., Varma, G., Gottlob, I. & Thomas, M. G., Jun 2022, In: Ophthalmology. 129, 6, p. 708-718 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

37 Citations (Web of Science)

Impact of Reference Center Choice on Adaptive Optics Imaging Cone Mosaic Analysis

Roshandel, D., Sampson, D. M., Mackey, D. A. & Chen, F. K., 1 Apr 2022, In: Investigative Ophthalmology and Visual Science. 63, 4, 2778762.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Citations (Scopus)

Intereye Symmetry in Bietti Crystalline Dystrophy

Liu, Z., Ayton, L. N., O'Hare, F., Arslan, J., Hu, M. L., Noar, A. P., Wang, J. H., Hickey, D. G., McGuinness, M. B., Vincent, A. L., Chen, F. K. & Edwards, T. L., Mar 2022, In: American Journal of Ophthalmology. 235, p. 313-325 13 p.

Research output: Contribution to journal › Article › peer-review

7 Citations (Scopus)

Measurement Properties of the Attitudes to Gene Therapy for the Eye (AGT-Eye) Instrument for People With Inherited Retinal Diseases

McGuinness, M. B., Britten-Jones, A. C., Ayton, L. N., Finger, R. P., Chen, F. K., Grigg, J. & Mack, H. G., 1 Feb 2022, In: Translational vision science & technology. 11, 2, p. 14 1 p., 14.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Citations (Scopus)

SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE

Jeffery, R. C. H., Thompson, J. A., Lo, J., Lamey, T. M., McLaren, T. L., De Roach, J. N., Azamanov, D. N., McAllister, I. L., Constable, I. J. & Chen, F. K., 1 Aug 2022, In: RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 42, 8, p. 1545-1559 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Citations (Scopus)

2021

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)

Pappalardo, J., Heath Jeffery, R. C., Thompson, J. A., Chelva, E., Pham, Q., Constable, I. J., McLaren, T. L., Lamey, T. M., De Roach, J. N. & Chen, F. K., Aug 2021, In: Documenta Ophthalmologica. 143, 1, p. 61-73 13 p.

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Classifying abca4 mutation severity using age-dependent ultra-widefield fundus autofluorescence-derived total lesion size

Heath Jeffery, R. C., Thompson, J. A., Lamey, T. M., Mclaren, T. L., Mcallister, I. L., Constable, I. J., Mackey, D. A., De Roach, J. N. & Chen, F. K., 1 Dec 2021, In: Retina. 41, 12, p. 2578-2588 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

13 Citations (Scopus)

Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11

Roshandel, D., Thompson, J. A., Jeffery, R. C. H., Zhang, D., Lamey, T. M., McLaren, T. L., De Roach, J. N., McLenachan, S., Mackey, D. A. & Chen, F. K., Jun 2021, In: Genes. 12, 6, 915.

Research output: Contribution to journal › Article › peer-review

Open Access

9 Citations (Scopus)

Determinants of Disease Penetrance in PRPF31-Associated Retinopathy

McLenachan, S., Zhang, D., Grainok, J., Zhang, X., Huang, Z., Chen, S.-C., Zaw, K., Lima, A., Jennings, L., Roshandel, D., Moon, S. Y., Jeffery, R. C. H., Attia, M. S. A., Thompson, J. A., Lamey, T. M., McLaren, T. L., Roach, J. D., Fletcher, S. & Fred, F., Oct 2021, In: Genes. 12, 10, 1542.

Research output: Contribution to journal › Article › peer-review

Open Access

13 Citations (Scopus)

Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy

Roshandel, D., Thompson, J. A., Charng, J., Zhang, D., Chelva, E., Arunachalam, S., Attia, M. S., Lamey, T. M., McLaren, T. L., De Roach, J. N., Mackey, D. A., Wilton, S. D., Fletcher, S., McLenachan, S. & Chen, F., 2021, In: Ophthalmic Genetics. 42, 1, p. 1-14 14 p.

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461–10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene

Huang, D., Zhang, D., Chen, S. C., Thandar Aung-Htut, M., Lamey, T. M., Thompson, J. A., McLaren, T. L., De Roach, J. N., Fletcher, S., Wilton, S. D., McLenachan, S. & Chen, F. K., Jul 2021, In: Stem Cell Research. 54, 102439.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Citations (Scopus)

Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene

Zaw, K., Wong, E. Y. M., Zhang, X., Zhang, D., Chen, S. C., Thompson, J. A., Lamey, T., McLaren, T., De Roach, J. N., Wilton, S. D., Fletcher, S., Mitrpant, C., Atlas, M. D., Chen, F. K. & McLenachan, S., Jan 2021, In: Stem Cell Research. 50, 102129.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Citations (Scopus)

Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene

Huang, D., Zhang, D., Chen, S. C., Aung-Htut, M. T., Lamey, T. M., Thompson, J. A., McLaren, T. L., De Roach, J. N., Fletcher, S., Wilton, S. D., Chen, F. K. & McLenachan, S., Jul 2021, In: Stem Cell Research. 54, 102448.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Citation (Scopus)

Gene replacement therapy restores RCBTB1 expression and cilium length in patient-derived retinal pigment epithelium

Huang, Z., Zhang, D., Chen, S. C., Jennings, L., Carvalho, L. S., Fletcher, S., Chen, F. K. & McLenachan, S., Nov 2021, In: Journal of Cellular and Molecular Medicine. 25, 21, p. 10020-10027 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Citations (Scopus)

Incidence of newly registered blindness from age-related macular degeneration in Australia over a 21-year period: 1996-2016

Heath Jeffery, R., Mukhtar, S., Lopez, D., Preen, D., McAllister, I. L., Mackey, D. A., Morlet, N., Morgan, W. H. & Chen, F. K., 1 Sept 2021, In: Asia-Pacific journal of ophthalmology (Philadelphia, Pa.). 10, 5, p. 442-449 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

13 Citations (Scopus)

Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy

Roshandel, D., Heath Jeffery, R. C., Charng, J., Sampson, D. M., McLenachan, S., Mackey, D. A. & Chen, F. K., 1 Dec 2021, In: Translational Vision Science and Technology. 10, 14, 12 p., 11.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Citations (Scopus)

2020

Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variants

Zhang, X., Thompson, J. A., Zhang, D., Charng, J., Arunachalam, S., McLaren, T. L., Lamey, T. M., De Roach, J. N., Jennings, L., McLenachan, S. & Chen, F. K., Nov 2020, In: Molecular Genetics and Genomic Medicine. 8, 11, e1489.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Citations (Scopus)

Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease

Charng, J., Xiao, D., Mehdizadeh, M., Attia, M. S., Arunachalam, S., Lamey, T. M., Thompson, J. A., McLaren, T. L., De Roach, J. N., Mackey, D. A., Frost, S. & Chen, F. K., 1 Dec 2020, In: Scientific Reports. 10, 1, 16491.

Research output: Contribution to journal › Article › peer-review

Open Access

27 Citations (Scopus)

Accelerating the identification and treatment of splice-altering mutations underlying inherited retinal diseases

Research output

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