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To Ha Loi
To Ha Loi
Children's Medical Research Institute
Biology
Cell biology
Retinal
aberrant splicing
Minigene
4
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2
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0
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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
Benjamin M. Nash
To Ha Loi
Amin Sabri
Steven S. Eamegdool
Milan Fernando
John R. Grigg
Seo-Kyung Chung
Anai Gonzalez-Cordero
Robyn V. Jamieson
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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
Fidelle Chahine Karam
To Ha Loi
Benjamin M. Nash
Alan Ma
Anai Gonzalez-Cordero
Robyn V. Jamieson
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Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.
2021
European Journal of Human Genetics
Benjamin M. Nash
Christopher J. G. Watson
Edward H. Hughes
Alec L. Hou
To Ha Loi
Bruce Bennetts
Diana Jelovic
Philip J Polkinghorne
Mark Gorbatov
John R. Grigg
Andrea L Vincent
Robyn V. Jamieson
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Microphthalmia, coloboma and WNT signalling
2018
Investigative Ophthalmology & Visual Science
Steven Eamegdool
To Ha Loi
Anson Cheng
Robyn V. Jamieson
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