Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field

por Yanes, Tatiane, Young, Mary-Anne, Meiser, Bettina, James, Paul A.
Publicado 2020

A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy

por Catchpool, Max, Ramchand, Jay, Martyn, Melissa, Hare, David L., James, Paul A., Trainer, Alison H., Knight, Josh, Goranitis, Ilias
Publicado 2019

The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Met...

por Forrest, Laura E., Forbes Shepherd, Rowan, Tutty, Erin, Pearce, Angela, Campbell, Ian, Devereux, Lisa, Trainer, Alison H., James, Paul A., Young, Mary-Anne
Publicado 2022

Generalist solutions to complex problems: generating practice-based evidence - the example of managing multi-morbidity

por Reeve, Joanne, Blakeman, Tom, Freeman, George K, Green, Larry A, James, Paul A, Lucassen, Peter, Martin, Carmel M, Sturmberg, Joachim P, van Weel, Chris
Publicado 2013

Analysis of RAD51D in Ovarian Cancer Patients and Families with a History of Ovarian or Breast Cancer

por Thompson, Ella R., Rowley, Simone M., Sawyer, Sarah, kConFab, Eccles, Diana M., Trainer, Alison H., Mitchell, Gillian, James, Paul A., Campbell, Ian G.
Publicado 2013

Personalising genetic counselling (POETIC) trial: Protocol for a hybrid type II effectiveness-implementation randomised clinical trial of a patient screening tool to improve patien...

por Forrest, Laura E., Tutty, Erin, De Silva, Anurika P., Petelin, Lara, Ruscigno, Amy, Purvis, Rebecca, Monohan, Katrina, Kentwell, Maira, Sexton, Adrienne, Stafford, Lesley, James, Paul A.
Publicado 2023

Effect of a care transition intervention by pharmacists: an RCT

por Farris, Karen B, Carter, Barry L, Xu, Yinghui, Dawson, Jeffrey D, Shelsky, Constance, Weetman, David B, Kaboli, Peter J, James, Paul A, Christensen, Alan J, Brooks, John M
Publicado 2014

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

por Subramanian, Deepak N., Zethoven, Magnus, McInerny, Simone, Morgan, James A., Rowley, Simone M., Lee, Jue Er Amanda, Li, Na, Gorringe, Kylie L., James, Paul A., Campbell, Ian G.
Publicado 2020

Integration of tumour sequencing and case–control data to assess pathogenicity of RAD51C missense variants in familial breast cancer

por Lim, Belle W. X., Li, Na, Rowley, Simone M., Thompson, Ella R., McInerny, Simone, Zethoven, Magnus, Scott, Rodney J., Devereux, Lisa, Sloan, Erica K., James, Paul A., Campbell, Ian G.
Publicado 2022

Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

por Zhang, Lei, Bao, Yining, Riaz, Moeen, Tiller, Jane, Liew, Danny, Zhuang, Xun, Amor, David J., Huq, Aamira, Petelin, Lara, Nelson, Mark, James, Paul A., Winship, Ingrid, McNeil, John J., Lacaze, Paul
Publicado 2019

Correction: Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

por Zhang, Lei, Bao, Yining, Riaz, Moeen, Tiller, Jane, Liew, Danny, Zhuang, Xun, Amor, David J., Huq, Aamira, Petelin, Lara, Nelson, Mark, James, Paul A., Winship, Ingrid, McNeil, John J., Lacaze, Paul
Publicado 2019

Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent

por Lacaze, Paul, Sebra, Robert, Riaz, Moeen, Ingles, Jodie, Tiller, Jane, Thompson, Bryony A., James, Paul A., Fatkin, Diane, Semsarian, Christopher, Reid, Christopher M., Tonkin, Andrew M., Winship, Ingrid, Schadt, Eric, McNeil, John J.
Publicado 2021

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context

por Thompson, Ella R., Gorringe, Kylie L., Rowley, Simone M., Li, Na, McInerny, Simone, Wong-Brown, Michelle W., Devereux, Lisa, Li, Jason, Trainer, Alison H., Mitchell, Gillian, Scott, Rodney J., James, Paul A., Campbell, Ian G.
Publicado 2015

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs

por Li, Na, Rowley, Simone M., Thompson, Ella R., McInerny, Simone, Devereux, Lisa, Amarasinghe, Kaushalya C., Zethoven, Magnus, Lupat, Richard, Goode, David, Li, Jason, Trainer, Alison H., Gorringe, Kylie L., James, Paul A., Campbell, Ian G.
Publicado 2018

Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16

por Pakdaman, Yasaman, Berland, Siren, Bustad, Helene J., Erdal, Sigrid, Thompson, Bryony A., James, Paul A., Power, Kjersti N., Ellingsen, Ståle, Krooni, Martin, Berge, Line I., Sexton, Adrienne, Bindoff, Laurence A., Knappskog, Per M., Johansson, Stefan, Aukrust, Ingvild
Publicado 2021

Cpipe: a shared variant detection pipeline designed for diagnostic settings

por Sadedin, Simon P., Dashnow, Harriet, James, Paul A., Bahlo, Melanie, Bauer, Denis C., Lonie, Andrew, Lunke, Sebastian, Macciocca, Ivan, Ross, Jason P., Siemering, Kirby R., Stark, Zornitza, White, Susan M., Taylor, Graham, Gaff, Clara, Oshlack, Alicia, Thorne, Natalie P.
Publicado 2015

Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper

por Cousens, Nicole E, Tiller, Jane, Meiser, Bettina, Barlow-Stewart, Kristine, Rowley, Simone, Ko, Yi-An, Mahale, Sakshi, Campbell, Ian G, Kaur, Rajneesh, Bankier, Agnes, Burnett, Leslie, Jacobs, Chris, James, Paul A, Trainer, Alison, Neil, Suzanne, Delatycki, Martin B, Andrews, Lesley
Publicado 2021

Polygenic score modifies risk for Alzheimer's disease in APOE ε4 homozygotes at phenotypic extremes

por Huq, Aamira J., Fulton‐Howard, Brian, Riaz, Moeen, Laws, Simon, Sebra, Robert, Ryan, Joanne, Renton, Alan E., Goate, Alison M., Masters, Colin L., Storey, Elsdon, Shah, Raj C., Murray, Anne, McNeil, John, Winship, Ingrid, James, Paul A., Lacaze, Paul
Publicado 2021

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants

por Lim, Belle W X, Li, Na, Mahale, Sakshi, McInerny, Simone, Zethoven, Magnus, Rowley, Simone M, Huynh, Joanne, Wang, Theresa, Lee, Jue Er Amanda, Friedman, Mia, Devereux, Lisa, Scott, Rodney J, Sloan, Erica K, James, Paul A, Campbell, Ian G
Publicado 2022

“Cancer 2015”: A Prospective, Population-Based Cancer Cohort—Phase 1: Feasibility of Genomics-Guided Precision Medicine in the Clinic

por Parisot, John P., Thorne, Heather, Fellowes, Andrew, Doig, Ken, Lucas, Mark, McNeil, John J., Doble, Brett, Dobrovic, Alexander, John, Thomas, James, Paul A., Lipton, Lara, Ashley, David, Hayes, Theresa, McMurrick, Paul, Richardson, Gary, Lorgelly, Paula, Fox, Stephen B., Thomas, David M.
Publicado 2015