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Articles June 2022

Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus

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Junwon Lee; Han Jeong; Dongju Won; Saeam Shin; Seung-Tae Lee; Jong Rak Choi; Suk Ho Byeon; Helen J. Kuht; Mervyn G. Thomas; Jinu Han
TAGS: exons, introns, pathologic nystagmus, rna splicing, x-linked inheritance
Trans. Vis. Sci. Tech.. 2022; 11(6):25. https://doi.org/10.1167/tvst.11.6.25

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

A machine learning solution to predict foveal development and visual prognosis in retinal developmental disorders

Helen Jane Kuht; Garima Nishad; Sharon S-H Wang; Gail Maconachie; Viral Sheth; Zhanhan Tu; Michael Hisaund; Rebecca J McLean; Ravi Purohit; Seema Teli; Frank A Proudlock; Yu-Dong Zhang; Irene Gottlob; Girish Varma; Mervyn G Thomas

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2739.

ARVO Annual Meeting Abstract June 2021

Genotypic and phenotypic spectrum of foveal hypoplasia

Mervyn G Thomas; Helen Jane Kuht; Jinu Han; Viral Sheth; Gail Maconachie; Michael Hisaund; Rebecca J McLean; Ravi Purohit; Zhanhan Tu; Sung Eun Park; Seung-Tae Lee; Hyun Taek Lim; Frank A Proudlock; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):2735.

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