Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

por Thompson, Bryony A., Spurdle, Amanda B.
Publicado 2015

Knowledge, Attitudes and Referral Patterns of Lynch Syndrome: A Survey of Clinicians in Australia

por Tan, Yen Y., Spurdle, Amanda B., Obermair, Andreas
Publicado 2014

Biomarkers in Women's Cancers, Gynecology, and Obstetrics

por Fasching, Peter A., Konecny, Gottfried E., Spurdle, Amanda B.
Publicado 2014

Meta-analysis of gene expression studies in endometrial cancer identifies gene expression profiles associated with aggressive disease and patient outcome

por O’Mara, Tracy A., Zhao, Min, Spurdle, Amanda B.
Publicado 2016

Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours

por Walker, Logan C., Krause, Lutz, Spurdle, Amanda B., Waddell, Nic
Publicado 2012

Analysis of Promoter-Associated Chromatin Interactions Reveals Biologically Relevant Candidate Target Genes at Endometrial Cancer Risk Loci

por O’Mara, Tracy A., Spurdle, Amanda B., Glubb, Dylan M.
Publicado 2019

The Association of CYP19A1 Variation with Circulating Estradiol and Aromatase Inhibitor Outcome: Can CYP19A1 Variants Be Used to Predict Treatment Efficacy?

por Glubb, Dylan M., O'Mara, Tracy A., Shamsani, Jannah, Spurdle, Amanda B.
Publicado 2017

Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)

por Buchanan, Daniel D, Rosty, Christophe, Clendenning, Mark, Spurdle, Amanda B, Win, Aung Ko
Publicado 2014

Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

por Canson, Daffodil M., O’Mara, Tracy A., Spurdle, Amanda B., Glubb, Dylan M.
Publicado 2023

Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort

por Casaletto, James, Parsons, Michael, Markello, Charles, Iwasaki, Yusuke, Momozawa, Yukihide, Spurdle, Amanda B., Cline, Melissa
Publicado 2022

Variation in the RAD51 gene and familial breast cancer

por Lose, Felicity, Lovelock, Paul, Chenevix-Trench, Georgia, Mann, Graham J, Pupo, Gulietta M, Spurdle, Amanda B
Publicado 2006

Assessing the Role of Selenium in Endometrial Cancer Risk: A Mendelian Randomization Study

por Kho, Pik Fang, Glubb, Dylan M., Thompson, Deborah J., Spurdle, Amanda B., O'Mara, Tracy A.
Publicado 2019

Generating high-quality data abstractions from scanned clinical records: text-mining-assisted extraction of endometrial carcinoma pathology features as proof of principle

por Nguyen, Anthony, O'Dwyer, John, Vu, Thanh, Webb, Penelope M, Johnatty, Sharon E, Spurdle, Amanda B
Publicado 2020

Use of DNA–Damaging Agents and RNA Pooling to Assess Expression Profiles Associated with BRCA1 and BRCA2 Mutation Status in Familial Breast Cancer Patients

por Walker, Logan C., Thompson, Bryony A., Waddell, Nic, Investigators, kConFab, Grimmond, Sean M., Spurdle, Amanda B.
Publicado 2010

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

por Whiley, Phillip J, Pettigrew, Christopher A, Brewster, Brooke L, Walker, Logan C, Spurdle, Amanda B, Brown, Melissa A
Publicado 2010

Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceoge...

por Lattimore, Vanessa L., Pearson, John F., Currie, Margaret J., Spurdle, Amanda B., Robinson, Bridget A., Walker, Logan C.
Publicado 2018

Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but...

por Pettigrew, Christopher, Wayte, Nicola, Lovelock, Paul K, Tavtigian, Sean V, Chenevix-Trench, Georgia, Spurdle, Amanda B, Brown, Melissa A
Publicado 2005

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes

por Caleca, Laura, Colombo, Mara, van Overeem Hansen, Thomas, Lázaro, Conxi, Manoukian, Siranoush, Parsons, Michael T., Spurdle, Amanda B., Radice, Paolo
Publicado 2019

SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion

por Canson, Daffodil M, Davidson, Aimee L, de la Hoya, Miguel, Parsons, Michael T, Glubb, Dylan M, Kondrashova, Olga, Spurdle, Amanda B
Publicado 2023

Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome

por Rayner, Emily, Tiersma, Yvonne, Fortuno, Cristina, van Hees‐Stuivenberg, Sandrine, Drost, Mark, Thompson, Bryony, Spurdle, Amanda B., de Wind, Niels
Publicado 2022