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Penny Clouston

Wellcome Trust Centre for Human Genetics

4

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548

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Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing Their Potential for Retinal Gene Therapy

2018 Genes
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Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

2012 Archives of Ophthalmology
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Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD)

2011 Journal of Medical Genetics
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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

2007 Nucleic Acids Research
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Citations (522)