Sheila M. Smith-Palmer
Cardiff, WLS, United Kingdom
Last Updated: 09/26/2026
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Found 14 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
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
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
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
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).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 28, 2024
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Journal: Journal of medical genetics
Published: April 05, 2024
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
Journal: Journal of medical genetics
Published: September 18, 2023
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Journal: European journal of human genetics : EJHG
Published: May 09, 2021
The detection of germline and somatic BRCA1/2 genetic variants through parallel testing of patients with high-grade serous ovarian cancer: a national retrospective audit.
Journal: BJOG : an international journal of obstetrics and gynaecology
Published: March 22, 2021
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Journal: Journal of medical genetics
Published: December 04, 2019
Last Updated: 09/26/2026