Miranda Durkie
Deputy head of rare disease
Research Interests
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About
Miranda Durkie is the Deputy Head of Rare Disease at Sheffield Children's Hospital in the UK. Her research primarily focuses on genomic testing and variant classification in the context of rare diseases and hereditary cancers. Recent publications include work on guidelines for genetic testing and insights from national genome sequencing projects. She actively contributes to advancing equitable access to genetic testing and enhancing laboratory workflows for genomic data integration.
Articles (15)
Year:
2025
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2024
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2024
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2024
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2024
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2024
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2024
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2024
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2024
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2024
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2023
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2023
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2022
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2022
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2021
Collaborators (15)
Kevin Monahan
Imperial College London
Eva Morris
Professor of Health Data Epidemiology
University of Oxford
Albert C. M. Ong
University of Sheffield Medical School
Diana M Eccles
University of Southampton
Alistair Pagnamenta
University of Exeter
Diana Baralle
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Andrew Parrish
Consultant Clinical Scientist, Head of Genomics Laboratory
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Siddharth Banka
The University of Manchester
Jonathan Neil Berg
Academic, Clinical Reader
University of Dundee
Alexandre Buffet
INSERM
Helen Hanson
University of Exeter
Emma Woodward
Manchester University NHS Foundation Trust
Eduardo Calpena
University of Oxford
Nina Orfali
Trinity College Dublin, The University of Dublin
Joanna Kenny
University College London
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