Miranda Durkie

Deputy head of rare disease

University Name

United Kingdom

This profile is automatically generated from trusted academic sources.

Google Scholar

ORCID

How do I reach out?

Meet Kite AI

Contact this professor

ORCID

Google Scholar

Research Interests

Biostatistics

100%

Epidemiology

40%

Medical Science

100%

Rare Disease

50%

Genomic

40%

Ovarian Cancer

30%

Polycystic Ovary Syndrome

30%

Ask ApplyKite AI

Start chatting

How can you help me contact this professor?

What are this professor's research interests?

How should I write an email to this professor?

Articles15

Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

Article Link

Year:

2025

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

Article Link

Year:

2024

Carrier testing for partners ofMUTYHvariant carriers: UK Cancer Genetics Group recommendations

Article Link

Year:

2024

Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus

Article Link

Year:

2024

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey

Article Link

Year:

2024

Correction: EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

Article Link

Year:

2024

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.

Article Link

Year:

2024

Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD.

Article Link

Year:

2024

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access

Article Link

Year:

2024

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification

Article Link

Year:

2024

The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease

Article Link

Year:

2023

UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes:RAD51C,RAD51D,BRIP1andPALB2

Article Link

Year:

2023

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996–2020: development of a national resource of patient-level genomics laboratory records

Article Link

Year:

2022

Reclassification of clinically-detected sequence variants

Article Link

Year:

2022

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Article Link

Year:

2021

Collaborators15

Kevin Monahan

Imperial College London

UNITED KINGDOM

Eva Morris

Professor of Health Data Epidemiology

University of Oxford

UNITED KINGDOM

Albert C. M. Ong

University of Sheffield Medical School

UNITED KINGDOM

Diana M Eccles

University of Southampton

UNITED KINGDOM

Alistair Pagnamenta

University of Exeter

UNITED KINGDOM

Diana Baralle

UNITED KINGDOM

Andrew Parrish

Consultant Clinical Scientist, Head of Genomics Laboratory

UNITED KINGDOM

Siddharth Banka

The University of Manchester

UNITED KINGDOM

Jonathan Neil Berg

Academic, Clinical Reader

University of Dundee

UNITED KINGDOM

Alexandre Buffet

INSERM

FRANCE

Helen Hanson

University of Exeter

UNITED KINGDOM

Emma Woodward

Manchester University NHS Foundation Trust

UNITED KINGDOM

Eduardo Calpena

University of Oxford

UNITED KINGDOM

Nina Orfali

Trinity College Dublin, The University of Dublin

IRELAND

Joanna Kenny

University College London

UNITED KINGDOM

How do I reach out?

Meet Kite AI