Miranda Durkie

Deputy head of rare disease

Country flagUnited Kingdom

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)

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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

UNITED KINGDOM
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Eva Morris

Professor of Health Data Epidemiology

University of Oxford

UNITED KINGDOM
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Albert C. M. Ong

University of Sheffield Medical School

UNITED KINGDOM
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Diana M Eccles

University of Southampton

UNITED KINGDOM
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Alistair Pagnamenta

University of Exeter

UNITED KINGDOM
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Diana Baralle

-

UNITED KINGDOM
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Andrew Parrish

Consultant Clinical Scientist, Head of Genomics Laboratory

-

UNITED KINGDOM
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Siddharth Banka

The University of Manchester

UNITED KINGDOM
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Jonathan Neil Berg

Academic, Clinical Reader

University of Dundee

UNITED KINGDOM
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Alexandre Buffet

INSERM

FRANCE
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Helen Hanson

University of Exeter

UNITED KINGDOM
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Emma Woodward

Manchester University NHS Foundation Trust

UNITED KINGDOM
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Eduardo Calpena

University of Oxford

UNITED KINGDOM
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Nina Orfali

Trinity College Dublin, The University of Dublin

IRELAND
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Joanna Kenny

University College London

UNITED KINGDOM
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