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Genevieve A. Wright

Moorfields Eye Hospital

43

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1295

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SVRare: discovering disease-causing structural variants in the 100K Genomes Project

2021 medRxiv
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Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.

2021 British Journal of Ophthalmology
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Panel-based genetic testing for inherited retinal disease screening 176 genes.

2021 Molecular Genetics & Genomic Medicine
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Evaluating the diagnostic yield of whole genome sequencing in genetic eye disease

2021 Investigative Ophthalmology & Visual Science
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Genetic basis of inherited retinal disease in a molecularly characterised cohort of over 3000 families from the United Kingdom

2020 Ophthalmology
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A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy.

2020 Eye
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Juvenile Batten disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

2019 Ophthalmology Retina
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Genetic basis of inherited retinal disease in a UK cohort of over 2900 families

2019 Investigative Ophthalmology & Visual Science
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Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly

2019 American Journal of Ophthalmology
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Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service

2017 Clinical Genetics
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