Amanda Barbara Spurdle


Ontology type: schema:Person     


Person Info

NAME

Amanda Barbara

SURNAME

Spurdle

Publications in SciGraph latest 50 shown

  • 2022-06-28 Author Correction: ROR1 is upregulated in endometrial cancer and represents a novel therapeutic target in SCIENTIFIC REPORTS
  • 2022-05-18 Breast cancer risks associated with missense variants in breast cancer susceptibility genes in GENOME MEDICINE
  • 2022-01-17 Value of the loss of heterozygosity to BRCA1 variant classification in NPJ BREAST CANCER
  • 2021-11-02 Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study in JOURNAL OF COMMUNITY GENETICS
  • 2021-10-21 Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibility in COMMUNICATIONS BIOLOGY
  • 2021-07-15 Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus in HUMAN GENETICS
  • 2021-04-01 Correction to: The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability in CLINICAL EPIGENETICS
  • 2021-01-11 A comprehensive re-assessment of the association between vitamin D and cancer susceptibility using Mendelian randomization in NATURE COMMUNICATIONS
  • 2020-10-28 Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients in BREAST CANCER RESEARCH AND TREATMENT
  • 2020-09-10 Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer in NPJ BREAST CANCER
  • 2020-08-17 ROR1 is upregulated in endometrial cancer and represents a novel therapeutic target in SCIENTIFIC REPORTS
  • 2020-08-10 Considerations in assessing germline variant pathogenicity using cosegregation analysis in GENETICS IN MEDICINE
  • 2020-07-15 Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants in GENETICS IN MEDICINE
  • 2020-07-08 The MLH1 polymorphism rs1800734 and risk of endometrial cancer with microsatellite instability in CLINICAL EPIGENETICS
  • 2020-07-03 Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers in NATURE COMMUNICATIONS
  • 2020-06-08 The effect of sample size on polygenic hazard models for prostate cancer in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2020-02-27 Co-existence of leiomyomas, adenomyosis and endometriosis in women with endometrial cancer in SCIENTIFIC REPORTS
  • 2020-01-28 Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants in BMC GENOMICS
  • 2020-01-22 Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome in GENETICS IN MEDICINE
  • 2020-01-07 Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes in NATURE GENETICS
  • 2019-12-19 Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort in GENETICS IN MEDICINE
  • 2019-12-10 Dietary inflammatory index, risk and survival among women with endometrial cancer in CANCER CAUSES & CONTROL
  • 2019-04-15 Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer in NATURE COMMUNICATIONS
  • 2018-12-03 A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome in GENETICS IN MEDICINE
  • 2018-10-04 Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls in NATURE COMMUNICATIONS
  • 2018-08-22 Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-08-13 Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val) in BREAST CANCER RESEARCH AND TREATMENT
  • 2018-08-09 Identification of nine new susceptibility loci for endometrial cancer in NATURE COMMUNICATIONS
  • 2018-02-15 Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices in NPJ GENOMIC MEDICINE
  • 2017-11-28 Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events in BREAST CANCER RESEARCH
  • 2017-08-01 Height, selected genetic markers and prostate cancer risk: results from the PRACTICAL consortium in BRITISH JOURNAL OF CANCER
  • 2017-04-28 Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing in MODERN PATHOLOGY
  • 2017-04-24 Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk in NATURE GENETICS
  • 2017-03-27 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer in NATURE GENETICS
  • 2017-02-01 Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-11-10 Meta-analysis of gene expression studies in endometrial cancer identifies gene expression profiles associated with aggressive disease and patient outcome in SCIENTIFIC REPORTS
  • 2016-10-28 Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3 in BREAST CANCER RESEARCH AND TREATMENT
  • 2016-05-02 Five endometrial cancer risk loci identified through genome-wide association analysis in NATURE GENETICS
  • 2016-04-30 Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group in HEREDITARY CANCER IN CLINICAL PRACTICE
  • 2016-04-07 Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation in NATURE COMMUNICATIONS
  • 2015-12-01 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1 in SCIENTIFIC REPORTS
  • 2015-04-25 An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers in BREAST CANCER RESEARCH
  • 2015-02-28 Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population in QUALITY OF LIFE RESEARCH
  • 2015-02-17 Infertility and incident endometrial cancer risk: a pooled analysis from the epidemiology of endometrial cancer consortium (E2C2) in BRITISH JOURNAL OF CANCER
  • 2014-12-31 Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers in BREAST CANCER RESEARCH
  • 2014-12-23 Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia in BREAST CANCER RESEARCH
  • 2014-12-09 Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk in HUMAN GENETICS
  • 2014-11-09 Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition in HUMAN GENETICS
  • 2014-09-14 A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer in NATURE GENETICS
  • 2013-10-06 Genome-wide association study of endometrial cancer in E2C2 in HUMAN GENETICS
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