Amanda B. Spurdle

发表

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia | NOVA. The University of Newcastle's Digital Repository

Rosemary L. Balleine, Christine L. Clarke, D. Gareth Evans, 2014 .

Considerations in assessing germline variant pathogenicity using cosegregation analysis

Amanda B. Spurdle, David E. Goldgar, Michael T. Parsons, 2020, Genetics in Medicine.

Amanda B. Spurdle, Marcelo A. Carvalho, Fergus J. Couch, 2015 .

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity

Amanda B. Spurdle, Michael T. Parsons, Sarah E. Hunt, 2018, Bioinform..

Amanda B. Spurdle, Marcelo A. Carvalho, Fergus J. Couch, 2015 .

Introduction: the challenge of genomic DNA interpretation

Amanda B. Spurdle, Jordan Lerner-Ellis, Conxi Lazaro, 2021 .

CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.

Nazneen Rahman, Michael Bremer, Julian Peto, 2004, American journal of human genetics.

Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics

Peter Kraft, Michael Bremer, Simon S. Cross, 2008, PLoS genetics.

BRCA1 and BRCA2 Missense Variants of High and Low Clinical Significance Influence Lymphoblastoid Cell Line Post-Irradiation Gene Expression

Mark Girolami, Amanda B. Spurdle, Piyush Grover, 2008, PLoS genetics.

A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

Rolf H. Sijmons, Amanda B. Spurdle, Sean V. Tavtigian, 2018, Genetics in Medicine.

A genetic variant of MDM4 influences regulation by multiple microRNAs in prostate cancer.

Amanda B. Spurdle, Jyotsna Batra, A. Spurdle, 2015, Endocrine-related cancer.

Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

Mads Thomassen, Julian Peto, Peter A. Fasching, 2013, PLoS genetics.

Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic Mutation

Amanda B. Spurdle, Michael T. Parsons, David E. Goldgar, 2014, PloS one.

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Joshua M. Korn, Christiana Kartsonaki, Amanda B. Spurdle, 2010, PLoS Genetics.

Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events

Amanda B. Spurdle, A. Spurdle, L. Walker, 2017, bioRxiv.

Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer

Marc Vidal, Dieter Niederacher, Roderic Guigó, 2011, PLoS biology.

Evidence of Gene–Environment Interactions between Common Breast Cancer Susceptibility Loci and Established Environmental Risk Factors

Patrick Neven, Daniel F. Schmidt, Julian Peto, 2013, PLoS genetics.

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

Alison P. Klein, Yan Zhang, Peter Kraft, 2019, bioRxiv.

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

Alison P. Klein, Peter Kraft, Florence Demenais, 2020, Nature Communications.

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

Min Zhao, Amanda B. Spurdle, A. Spurdle, 2016, Scientific Reports.

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

Amanda B. Spurdle, Raphaël Leman, Marine Guillaud-Bataille, 2020, BMC Genomics.