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ARVO Annual Meeting Abstract June 2024

Genome-wide Association Study of Foveal Hypoplasia

Callum Hunt; Ha-Jun Yoon; Zhanhan Tu; Manjiri Patil; Girish Varma; Jinu Han; Helen Kuht; Gail Maconachie; Will Norton; Jun Wang; Zhen Zuo; Rui Chen; Martin Tobin; Chiara Batini; Mervyn George Thomas

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):417.

ARVO Annual Meeting Abstract June 2024

International Multi-Centre Validation of Unsupervised Domain Adaptation for Precise Discrimination between Normal and Abnormal Retinal Development

Zhanhan Tu; Nikhil Reddy; Helen Kuht; Gail DE Maconachie; Jinu Han; Line Kessel; Jing Jin; Ha-Jun Yoon; Callum Hunt; Prateek Pani; Ravi S Purohit; Irene Gottlob; Girish Varma; Mervyn George Thomas

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2148.

ARVO Annual Meeting Abstract June 2024

Exploring Variable Penetrance in Females with X-Linked Retinal Disorders

Benjamin Wong; Gail DE Maconachie; Zhanhan Tu; Jinu Han; Pradeep Vasudevan; Irene Gottlob; Mervyn George Thomas

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5285.

Eye Movements, Strabismus, Amblyopia and Neuro-ophthalmology November 2023

Neuro-Ophthalmic Adverse Events of COVID-19 Infection and Vaccines: A Nationwide Cohort Study

PDF

Jae Yong Han; Sunyeup Kim; Jinu Han; Sung Soo Kim; Sueng-Han Han; Seung Won Lee; Yong Joon Kim
TAGS: adverse event, cohort studies, covid-19, eye, vaccination, vaccines
Invest. Ophthalmol. Vis. Sci.. 2023; 64(14):37. https://doi.org/10.1167/iovs.64.14.37

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Two novel non-coding base pair mutations at the same DNASE1 site as the original North Carolina Macular Dystrophy / MCDR1 locus affecting PRDM13, in two Korean families.

Leslie Small; Kent W Small; Amber Diaz; Kwangsic Joo; Se Joon Woo; Yuri Seo; Junwon Lee; Jinu Han

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):3652.

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 2022

Phenotypic Characteristics as a Diagnostic Tool for Albinism: Sensitivity and Specificity Analysis

Abdullah Aamir; Helen Kuht; Jinu Han; Mies M. van Genderen; Gail Maconachie; Rebecca McLean; Zhanhan Tu; Viral Sheth; Richard W Hertle; Line Kessel; Brian Brooks; Frank A Proudlock; Irene Gottlob; Mervyn George Thomas

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1840.

ARVO Annual Meeting Abstract June 2022

The Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study on behalf of the Foveal Development Investigators Group (FDIG)

Helen Kuht; Jinu Han; Line Kessel; Mies M. van Genderen; Richard W Hertle; Karen Gronskov; Vasily Smirnov; Fred Kuanfu Chen; Rachael C Heath Jeffery; Brian Patrick Brooks; Sasha Strul; Jin Jing; Martin Tobin; Irene Gottlob; Mervyn George Thomas

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1839.

ARVO Annual Meeting Abstract June 2022

Truncating PAX6 mutations result in severe arrested retinal development with loss of cone photoreceptor specialisation: A multi-centre study

Mervyn George Thomas; Helen Kuht; Jinu Han; Gail Maconachie; Rebecca McLean; Zhanhan Tu; Viral Sheth; Martin Tobin; Brian Patrick Brooks; Elizabeth Engle; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1838.

ARVO Annual Meeting Abstract June 2022

Variability of outer retinal hyper-reflective bands detected using optical coherence tomography

Ayesha Girach; Helen Kuht; Jinu Han; Garima Nishad; Prateek Pani; Yu-Dong Zhang; Zhanhan Tu; Girish Varma; Mervyn Thomas

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):3835.

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.

ARVO Annual Meeting Abstract June 2021

Highly sensitive and specific in silico program to detect RP1 Alu insertion from short-read sequencing data

Jinu Han; Suk Ho Byeon; Junwon Lee; Christopher Suengkyu Lee; Min Kim; Hyun Taek Lim

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1564.

ARVO Annual Meeting Abstract July 2019

NMNAT1 is the most frequently mutated gene in Leber congenital amaurosis in South Korea

Dongheon Surl; Junwon Lee; Suk Ho Byeon; Christopher Seungkyu Lee; Jinu Han

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):422.

ARVO Annual Meeting Abstract July 2018

Personalized diagnosis and management of inherited pediatric ophthalmic diseases by Next-Generation Sequencing

Jinu Han; Seung-Tae Lee; Jong Rak Choi; John Hoon Rim; Hye Won Park; Sueng-Han Han

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5400.

ARVO Annual Meeting Abstract June 2017

Next generation sequencing reveal accurate molecular diagnosis in patients with infantile nystagmus syndrome

Jinu Han; Seung-Tae Lee

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2784.

ARVO Annual Meeting Abstract June 2017

Protective effect of biodegradable collagen implant in thinned sclera after strabismus surgery : paired eye study

Tae Keun Yoo; seung-han han; Jinu Han

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2925.

ARVO Annual Meeting Abstract September 2016

Clinical Evaluation of Handheld Wavefront Aberrometer to Measure Refractive Error in Children

Jinu Han; Nicolas S Brown; Sangchul Yoon; Geunyoung Yoon

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6248.

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Genome-wide Association Study of Foveal Hypoplasia

International Multi-Centre Validation of Unsupervised Domain Adaptation for Precise Discrimination between Normal and Abnormal Retinal Development

Exploring Variable Penetrance in Females with X-Linked Retinal Disorders

Neuro-Ophthalmic Adverse Events of COVID-19 Infection and Vaccines: A Nationwide Cohort Study

Two novel non-coding base pair mutations at the same DNASE1 site as the original North Carolina Macular Dystrophy / MCDR1 locus affecting PRDM13, in two Korean families.

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

Phenotypic Characteristics as a Diagnostic Tool for Albinism: Sensitivity and Specificity Analysis

The Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study on behalf of the Foveal Development Investigators Group (FDIG)

Truncating PAX6 mutations result in severe arrested retinal development with loss of cone photoreceptor specialisation: A multi-centre study

Variability of outer retinal hyper-reflective bands detected using optical coherence tomography

Genotypic and phenotypic spectrum of foveal hypoplasia

Highly sensitive and specific in silico program to detect RP1 Alu insertion from short-read sequencing data

NMNAT1 is the most frequently mutated gene in Leber congenital amaurosis in South Korea

Personalized diagnosis and management of inherited pediatric ophthalmic diseases by Next-Generation Sequencing

Next generation sequencing reveal accurate molecular diagnosis in patients with infantile nystagmus syndrome

Protective effect of biodegradable collagen implant in thinned sclera after strabismus surgery : paired eye study

Clinical Evaluation of Handheld Wavefront Aberrometer to Measure Refractive Error in Children

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