Samantha Butler
Birmingham, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 12 publications
EMQN best practice guidelines for analysis and reporting of microsatellite instability in solid tumours.
Journal: European journal of human genetics : EJHG
Published: December 16, 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
Prognostic markers in oesophageal and gastric cancer review. Are they ready for clinical practice?
Journal: ESMO gastrointestinal oncology
Published: October 10, 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
Promoting equitable genetic testing in ovarian cancer: the demonstration of improvement for molecular ovarian cancer testing (DEMO) project.
Journal: BMJ open quality
Published: December 14, 2023
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
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 13, 2023
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer.
Journal: European journal of human genetics : EJHG
Published: June 08, 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.
Journal: Journal of medical genetics
Published: July 01, 2022
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
Journal: Journal of medical genetics
Published: November 22, 2021
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 26, 2021
Uterine leiomyomatosis in adolescents and young adults (AYAs) may represent a narrow phenotypic variant of FH tumour predisposition syndrome.
Journal: Familial cancer
Published: December 08, 2020
Showing 1-12 of 12
Last Updated: 09/26/2026