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List of works by Paul James

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

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

A quantitative model to predict pathogenicity of missense variants in the TP53 gene

scientific article published on 18 March 2019

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

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

scientific article published on 10 September 2020

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

scientific article published on 11 January 2022

Cpipe: a shared variant detection pipeline designed for diagnostic settings

scientific article published on 10 July 2015

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

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

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes

scientific article published on 02 April 2020

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

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

scientific article

Men's experiences of recontact about a potential increased risk of prostate cancer due to Lynch Syndrome: "Just another straw on the stack"

scientific article published on 10 April 2019

Mutations in RECQL are not associated with breast cancer risk in an Australian population

scientific article published on 01 October 2018

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Shared heritability and functional enrichment across six solid cancers

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

scientific article published on 10 December 2020

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

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