Elise Heon

Affiliations: 
Medical Science University of Toronto, Toronto, ON, Canada 
Area:
Molecular Biology, Genetics
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"Elise Heon"
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Publications

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Schmidt RE, Pohodich AE, Birch D, et al. (2025) Variants in CFAP410 cause a range of retinal and skeletal phenotypes. Npj Genomic Medicine. 10: 32
Adele R, Hussein R, Tavares E, et al. (2024) Autosomal dominant macular dystrophy linked to a chromosome 17 tandem duplication. Jci Insight
Igelman AD, White E, Tayyib A, et al. (2024) Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study. The British Journal of Ophthalmology
Heath Jeffery RC, Thompson JA, Lo J, et al. (2024) Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients. Investigative Ophthalmology & Visual Science. 65: 22
Li RTH, Roman AJ, Sumaroka A, et al. (2023) Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5. Investigative Ophthalmology & Visual Science. 64: 33
Ballios BG, Mandola A, Tayyib A, et al. (2023) Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome. Eye (London, England)
Reurink J, Weisschuh N, Garanto A, et al. (2023) Whole genome sequencing for -associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction. Hgg Advances. 4: 100181
Zeitz C, Roger JE, Audo I, et al. (2023) Shedding light on myopia by studying complete congenital stationary night blindness. Progress in Retinal and Eye Research. 101155
Cideciyan AV, Jacobson SG, Swider M, et al. (2022) Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations. Investigative Ophthalmology & Visual Science. 63: 12
Cideciyan AV, Jacobson SG, Sumaroka A, et al. (2022) Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations. Vision Research. 203: 108157
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