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Journal Articles (3)
Meeting Abstract (1)

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Investigative Ophthalmology & Visual Science (4)

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Genetics (2)
ARVO Annual Meeting Abstract (1)
Biochemistry and Molecular Biology (1)

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Eye Anatomy and Disorders (3)
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Lens (2)
Biochemistry and Molecular Biology (1)
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mutation (3)
phenotype (3)
congenital abnormality (2)
congenital cataract (2)
family (2)
cataract (1)
iridodental dysplasia (1)
massively-parallel genome sequencing (1)
peroxisome biogenesis disorder (1)
proteins (1)

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Genetics January 2017

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

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Rachel L. Taylor; Mark T. Handley; Sarah Waller; Christopher Campbell; Jill Urquhart; Alison M. Meynert; Jamie M. Ellingford; Deirdre Donnelly; Gisela Wilcox; I. Chris Lloyd; Helen Mundy; David R. FitzPatrick; Charu Deshpande; Jill Clayton-Smith; Graeme C. Black
TAGS: congenital cataract, family, massively-parallel genome sequencing, mutation, peroxisome biogenesis disorder, phenotype, cataract
Invest. Ophthalmol. Vis. Sci.. 2017; 58(1):594-603. https://doi.org/10.1167/iovs.16-21026

Includes: Supplemental Content

Genetics February 2015

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

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Rachel L. Gillespie; Jill Urquhart; Simon C. Lovell; Susmito Biswas; Neil R. A. Parry; Daniel F. Schorderet; I. Chris Lloyd; Jill Clayton-Smith; Graeme C. Black
TAGS: congenital abnormality, congenital cataract, mutation, proteins, retinal dystrophies, syndrome, phenotype
Invest. Ophthalmol. Vis. Sci.. 2015; 56(2):883-891. https://doi.org/10.1167/iovs.14-15861

ARVO Annual Meeting Abstract June 2013

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

Lucas Fares Taie; Sylvie Gerber; Nicolas Chassaing; Jill Clayton-Smith; Eduardo Silva; Arnold Munnich; Patrick Calvas; Josseline Kaplan; Nicola Ragge; Jean-Michel Rozet

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3363.

Biochemistry and Molecular Biology August 2000

Phenotypic Variability and Asymmetry of Rieger Syndrome Associated with PITX2 Mutations

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Rahat Perveen; I. Christopher Lloyd; Jill Clayton–Smith; Amanda Churchill; Veronica van Heyningen; Isabel Hanson; David Taylor; Carole McKeown; Maurice Super; Bronwyn Kerr; Robin Winter; Graeme C. M. Black
TAGS: iridodental dysplasia, mutation, phenotype, family, congenital abnormality
Invest. Ophthalmol. Vis. Sci.. 2000; 41(9):2456-2460.

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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