Miranda Durkie
Sheffield, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 34 publications
'Truthsets' for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK).
Journal: medRxiv : the preprint server for health sciences
Published: July 30, 2026
Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controls.
Journal: medRxiv : the preprint server for health sciences
Published: May 25, 2026
Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.
Journal: Journal of medical genetics
Published: March 22, 2026
The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.
Journal: Journal of medical genetics
Published: January 22, 2026
MLH1 c.27G>A (p.Arg9=) is a synonymous likely/pathogenic variant underlying variably mosaic constitutional MLH1 methylation in Lynch syndrome.
Journal: Familial cancer
Published: March 07, 2025
Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach.
Journal: American journal of human genetics
Published: March 07, 2025
The diagnostic accuracy of ultrasound and genomic tests for the diagnosis of autosomal-dominant polycystic kidney disease: a systematic mapping review.
Journal: Clinical kidney journal
Published: February 18, 2025
Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists.
Journal: American journal of human genetics
Published: February 04, 2025
Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma.
Journal: Clinical genetics
Published: December 23, 2024
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 28, 2024
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.
Journal: American journal of human genetics
Published: November 19, 2024
Correction: EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.
Journal: European journal of human genetics : EJHG
Published: August 02, 2024
Last Updated: 09/26/2026