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Sarah P Meredith

University of Cambridge

7

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224

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Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

2010 Human Mutation
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Wagner syndrome Clinical characterisation and molecular analysis of

2008
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Vitreous phenotype: A key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity

2007 American Journal of Medical Genetics Part A
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Clinical characterisation and molecular analysis of Wagner syndrome.

2007 British Journal of Ophthalmology
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Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen

2007 British Journal of Ophthalmology
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Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms

2007 Human Mutation
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A Novel Mutation of COL2A1 Resulting in Dominantly Inherited Rhegmatogenous Retinal Detachment

2005 Investigative Ophthalmology & Visual Science
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