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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. doi:

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. doi:

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. doi:

ARVO Annual Meeting Abstract June 2020

Whole Genome Sequencing in Infantile Nystagmus

Mervyn George Thomas; Gail Maconachie; Rebecca McLean; Helen Kuht; Viral Sheth; Michael Hisaund; Swati Parida; Abdullah Aamir; Frank A Proudlock; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2350. doi:

ARVO Annual Meeting Abstract June 2020

Using Artificial Intelligence (AI) to Classify Retinal Developmental Disorders

Helen Kuht; Shuihua Wang; Garima Nishad; Sharon George; Gail Maconachie; Viral Sheth; Zhanhan Tu; Michael Hisaund; Rebecca McLean; Seema Teli; Frank Proudlock; Girish Varma; Yu-Dong Zhang; Irene Gottlob; Mervyn George Thomas

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4030. doi:

ARVO Annual Meeting Abstract July 2018

Optic Nerve Head Abnormalities Associated with Congenital Fibrosis of Extraocular Muscles

Mervyn George Thomas; Gail Maconachie; Wai-Man Chan; Viral Sheth; Rebecca McLean; Ravi Purohit; Michael Hisaund; Brenda Barrry; Frank A Proudlock; Elizabeth Engle; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2173. doi:

ARVO Annual Meeting Abstract July 2018

Longitudinal evaluation of changes in retinal architecture using optical coherence tomography (OCT) in achromatopsia.

Magdalini Triantafylla; Viral Sheth; Zhanhan Tu; Rebecca McLean; Mervyn George Thomas; Susanne Kohl; Frank A Proudlock; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5205. doi:

ARVO Annual Meeting Abstract July 2018

Comparison of quantitative segmentation analysis and structural grading of foveal hypoplasia in infants for the prediction of future visual acuity: A longitudinal cohort study

Sohaib Riyaz Rufai; Mervyn George Thomas; Ravi Purohit; Helena Lee; Frank A Proudlock; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5788. doi:

ARVO Annual Meeting Abstract June 2017

Comparison of retinal development in idiopathic infantile nystagmus and nystagmus associated with albinism, PAX6 mutations and achromatopsia.

Mervyn George Thomas; Viral Sheth; Gail Maconachie; Sarim Ather; Rebecca Jane McLean; Frank A Proudlock; Susanne Kohl; Bart Peter Leroy; Anthony T Moore; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):861. doi:

ARVO Annual Meeting Abstract September 2016

A novel diagnostic next generation sequencing panel for infantile nystagmus

Mervyn George Thomas; Gail Maconachie; Viral Sheth; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4588. doi:

ARVO Annual Meeting Abstract September 2016

Genetic screening using next generation sequencing in an atypical presentation of episodic ataxia with dominant inheritance.

Gail Maconachie; Mervyn George Thomas; Cris Constantinescu; Viral Sheth; Rebecca McLean; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):5983. doi:

ARVO Annual Meeting Abstract June 2015

Whole Exome Sequencing Identifies a New Splicing Factor Gene Causative of X-linked Spinocerebellar Ataxia

Mervyn George Thomas; Cris S Constantinescu; Viral Sheth; Moira Crosier; Jayesh Patel; Rob A Dineen; Paul Maddison; Thabit Sabbubeh; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):3994. doi:

ARVO Annual Meeting Abstract April 2014

High Resolution in-vivo Imaging in Patients with PAX6 Mutations

Mervyn George Thomas; Viral Sheth; Wai-Man Chan; Caroline Andrews; Elizabeth C Engle; Irene Gottlob

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6413. doi:

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