Amanda Spurdle

67PUBLICATIONS
665CO-AUTHORS
Cancer geneticsMedical biotechnology diagnostics (incl. biosensors)Epigenetics (incl. genome methylation and epigenomics)Psycholinguistics (incl. speech production and comprehension)Cognitive neuroscience
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Publications (67)

|Jul 30, 2026
'Truthsets' for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK).

|Mar 13, 2026
Survey of diagnostic laboratories highlights need for improved standards in somatic genomic testing and reporting.

Grace Pendlebury, Emma Tudini, James Andrews

|Sep 02, 2025
Case-Control Study for 23 Cancer Types With Functional Analysis of CHEK2: Risk Estimation and Clinical Recommendations in East Asia.

Yuri Takehara, Yoshiaki Usui, Lenka Stolařová

|May 24, 2025
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification.

Maria Zanti, Denise G O'Mahony, Michael T Parsons

|May 09, 2025
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact.

Daffodil M Canson, Inés Llinares-Burguet, Cristina Fortuno

|Dec 16, 2024
Consultation informs strategies to improve functional evidence use in variant classification.

Rehan M Villani, Bronwyn Terrill, Emma Tudini

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Frequent Collaborators

19 joint publications

Paul James

18 joint publications

Michael T Parsons

10 joint publications

Miguel de la Hoya

8 joint publications

Tracy O'Mara