Concepedia

Miranda Durkie

MD

Statistics

Publications

21

Citations

1K

H-Index

15

Active since

1999

Affiliations

Sheffield Children's NHS Foundation Trust(Current)

University of Southampton

Manchester University NHS Foundation Trust

St George’s University Hospitals NHS Foundation Trust

Institute of Cancer Research

Miranda Durkie is an author at Sheffield Children's NHS Foundation Trust specializing in medical genetics, genetics, and molecular genetics.

Publications per year

1999–2024

21

Publications

21

A genetic study of Wilson’s disease in the United Kingdom

Alison J. Coffey, Miranda Durkie, Stephen Hague et al. · Brain · 2013 · 362 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes

Alice Garrett, Subin Choi, Laura King et al. · Genetics in Medicine · 2021 · 82 citations · Full text

Medicine, Bioinformatics, Molecular Genetics +14

A study of Wilson disease mutations in Britain

Diana Curtis, Miranda Durkie, Pauline Balac et al. · Human Mutation · 1999 · 80 citations

Life Sciences, Genetics, Molecular Genetics +15

Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease

Miranda Durkie, Jiehan Chong, Manoj K. Valluru et al. · Genetics in Medicine · 2020 · 68 citations · Full text

Medicine, Genetics, Pediatrics +17

Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

Alice Garrett, Miranda Durkie, Alison Callaway et al. · Journal of Medical Genetics · 2020 · 63 citations · Full text

Life Sciences, Genetics, Oncology +17

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