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Robyn V. Jamieson

Children's Medical Research Institute
University of Sydney
Children's Hospital at Westmead

85

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1709

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Genome sequencing in congenital cataracts improves diagnostic yield.

2021 Human Mutation
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Identification of missense MAB21L1 variants in microphthalmia and aniridia.

2021 Human Mutation
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Incidence of electronegative findings in tertiary ophthalmology referral centre

2021 Investigative Ophthalmology & Visual Science
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MERTK retinopathy: biomarkers assessing vision loss

2021 Ophthalmic Genetics
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Aberrant splicing caused by a novel synonymous RPE65 variant, demonstrated in iPSC-derived retinal pigment epithelial cells and on minigene assay

2021 Investigative Ophthalmology & Visual Science
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Perspectives of people with inherited retinal diseases on ocular gene therapy in Australia: protocol for a national survey.

2021 BMJ Open
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A novel intronic RPGR variant in patient-derived iPSC retinal pigment epithelium and retinal organoids reveals abnormal splicing and protein expression

2021 Investigative Ophthalmology & Visual Science
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Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.

2021 European Journal of Human Genetics
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Genetic Variants and Impact in PDE6B Rod-Cone Dystrophy

2021
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The electroretinogram in the genomics era: outer retinal disorders.

2021 Eye
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