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List of works by Paul James

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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article
Cpipe: a shared variant detection pipeline designed for diagnostic settings

scientific article published on 10 July 2015
Mutations in RECQL are not associated with breast cancer risk in an Australian population

scientific article published on 01 October 2018
A quantitative model to predict pathogenicity of missense variants in the TP53 gene

scientific article published on 18 March 2019
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020
The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine

scientific article published on September 21, 2015
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019
Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer

scientific article published on 08 April 2019
Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019
A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy

scientific article published on 20 June 2019
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

scientific article published on 26 July 2019
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines

scientific article published on 02 June 2020
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly

scientific article published on 23 January 2020
Integration of tumour sequencing and case–control data to assess pathogenicity of RAD51C missense variants in familial breast cancer

scientific article published on 17 January 2022
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes

scientific article published on 02 April 2020
Data from Gene-Expression Profiling of Mucinous Ovarian Tumors and Comparison with Upper and Lower Gastrointestinal Tumors Identifies Markers Associated with Adverse Outcomes

Figure 6 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk

Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer

scientific article published on 10 September 2020
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects

scientific article published on 12 May 2021
A systematic review and meta‐analysis of the impacts of germline pharmacogenomics on severe toxicity and symptom burden in adult patients with cancer

scientific article published in May 2024
Supplementary Methods 1 from Gene-Expression Profiling of Mucinous Ovarian Tumors and Comparison with Upper and Lower Gastrointestinal Tumors Identifies Markers Associated with Adverse Outcomes

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022
Table S2 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

Supplementary Methods 1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk

Table S3 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

Table S1 from A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

Estimating the proportion of pathogenic variants from breast cancer case–control data: Application to calibration of ACMG/AMP variant classification criteria

Gene-Expression Profiling of Mucinous Ovarian Tumors and Comparison with Upper and Lower Gastrointestinal Tumors Identifies Markers Associated with Adverse Outcomes

scientific article published on 7 October 2022
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

Reply to S. Li et al

scientific article published in May 2024
Supplementary Methods 1 from Gene-Expression Profiling of Mucinous Ovarian Tumors and Comparison with Upper and Lower Gastrointestinal Tumors Identifies Markers Associated with Adverse Outcomes

Figure 5 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk

Supplementary Figures S1-S13 from Gene-Expression Profiling of Mucinous Ovarian Tumors and Comparison with Upper and Lower Gastrointestinal Tumors Identifies Markers Associated with Adverse Outcomes

Shared heritability and functional enrichment across six solid cancers

Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53

scientific article published on 16 January 2020
The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing

scientific article published on 4 December 2023
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

scientific article published on 03 December 2021
Using polygenic risk modification to improve breast cancer prevention: study protocol for the PRiMo multicentre randomised controlled trial

scientific article published in August 2024
Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer

Contribution of large genomic rearrangements inPALB2to familial breast cancer: implications for genetic testing

scientific article published on 8 April 2022
ENIGMACHEK2gether Project: A Comprehensive Study Identifies Functionally ImpairedCHEK2Germline Missense Variants Associated with Increased Breast Cancer Risk

Cancer risk management in Tasmanian women with BRCA1 and BRCA2 mutations

scientific article published on 16 October 2017
Evaluation of a telehealth service to support breast cancer prevention medication uptake: a protocol of a mixed methods study

scientific article published in June 2025
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

scientific article published on 12 May 2023
Case–case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer

Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer Centre

Table S1 from ENIGMA <i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired <i>CHEK2</i> Germline Missense Variants Associated with Increased Breast Cancer Risk

Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study

Data from Gene-Expression Profiling of Mucinous Ovarian Tumors and Comparison with Upper and Lower Gastrointestinal Tumors Identifies Markers Associated with Adverse Outcomes

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