Paul James

Heritable defects in telomere and mitotic function selectively predispose to sarcomas.

Mandy L Ballinger, Swetansu Pattnaik, Piyushkumar A Mundra, Milita Zaheed, Emma Rath, Peter Priestley, Jonathan Baber, Isabelle Ray-Coquard, Nicholas Isambert, Sylvain Causeret, Winette TA van der Graaf, Ajay Puri, Florence Duffaud, Axel Le Cesne, Beatrice Seddon, Coonoor Chandrasekar, Joshua D Schiffman, Andrew S Brohl, Paul A James, Jean-Emmanuel Kurtz, et al.

Journal article  |  2023  |  Science

Cancer genetics has to date focused on epithelial malignancies, identifying multiple histotype-specific pathways underlying cancer..

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

Nicola S Meagher, Kylie L Gorringe, Matthew Wakefield, Adelyn Bolithon, Chi Nam Ignatius Pang, Derek S Chiu, Michael S Anglesio, Kylie-Ann Mallitt, Jennifer A Doherty, Holly R Harris, Joellen M Schildkraut, Andrew Berchuck, Kara L Cushing-Haugen, Ksenia Chezar, Angela Chou, Adeline Tan, Jennifer Alsop, Ellen Barlow, Matthias W Beckmann, Jessica Boros, et al.

Journal article  |  2022  |  CLINICAL CANCER RESEARCH

PURPOSE: Advanced-stage mucinous ovarian carcinoma (MOC) has poor chemotherapy response and prognosis and lacks biomarkers to aid ..

Psychiatric genetic counseling: A survey of Australian genetic counselors' practice and attitudes

Joanne Isbister, Adrienne Sexton, Laura E Forrest, Paul James, James Dowty, Jessica Taylor, Jehannine Austin, Ingrid Winship

Journal article  |  2022  |  JOURNAL OF GENETIC COUNSELING

Genetic counseling plays a critical role in supporting individuals and their families' adaption to psychiatric conditions, address..

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Mads Thomassen, Romy LS Mesman, Thomas VO Hansen, Mireia Menendez, Maria Rossing, Ada Esteban-Sánchez, Emma Tudini, Therese Törngren, Michael T Parsons, Inge S Pedersen, Soo H Teo, Torben A Kruse, Pål Møller, Åke Borg, Uffe B Jensen, Lise L Christensen, Christian F Singer, Daniela Muhr, Marta Santamarina, Rita Brandao, et al.

Journal article  |  2022  |  Hum Mutat

Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may ..

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

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

Journal article  |  2022  |  JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE

BACKGROUND: Breast cancers (BCs) that arise in individuals heterozygous for a germline pathogenic variant in a susceptibility gene..

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Christopher Hakkaart, John F Pearson, Louise Marquart, Joe Dennis, George AR Wiggins, Daniel R Barnes, Bridget A Robinson, Peter D Mace, Kristiina Aittomäki, Irene L Andrulis, Banu K Arun, Jacopo Azzollini, Judith Balmaña, Rosa B Barkardottir, Sami Belhadj, Lieke Berger, Marinus J Blok, Susanne E Boonen, Julika Borde, Angela R Bradbury, et al.

Journal article  |  2022  |  Commun Biol

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA..

Factors predicting cardiac arrest in acute coronary syndrome patients under 50: A state-wide angiographic and forensic evaluation of outcomes.

Elizabeth D Paratz, Alexander van Heusden, Karen Smith, Angela Brennan, Diem Dinh, Jocasta Ball, Jeff Lefkovits, David M Kaye, Stephen J Nicholls, Andreas Pflaumer, Andre La Gerche, Dion Stub, undefined VCOR and EndUCD Investigators

Journal article  |  2022  |  Resuscitation

BACKGROUND: An uncertain proportion of patients with acute coronary syndrome (ACS) also experience out-of-hospital cardiac arrest ..

Inconsistent discharge diagnoses for young cardiac arrest episodes: insights from a statewide registry

Elizabeth D Paratz, Alexander van Heusden, Jocasta Ball, Karen Smith, Dominica Zentner, Natalie Morgan, Sarah Parsons, Tina Thompson, Paul James, Vanessa Connell, Andreas Pflaumer, Christopher Semsarian, Jodie Ingles, Dion Stub, Andre La Gerche

Journal article  |  2022  |  INTERNAL MEDICINE JOURNAL

BACKGROUND: Administrative coding of out-of-hospital cardiac arrest (OHCA) is heterogeneous, with the prevalence of noninformative..

Obesity in young sudden cardiac death: Rates, clinical features, and insights into people with body mass index >50kg/m(2)

Elizabeth D Paratz, Srikkumar Ashokkumar, Alexander van Heusden, Karen Smith, Dominica Zentner, Natalie Morgan, Sarah Parsons, Tina Thompson, Paul James, Vanessa Connell, Andreas Pflaumer, Chris Semsarian, Jodie Ingles, Dion Stub, Andre La Gerche

Journal article  |  2022  |  AMERICAN JOURNAL OF PREVENTIVE CARDIOLOGY

OBJECTIVE: To contextualize obesity rates in young sudden cardiac death (SCD) against the age-matched national population, and ide..

Causes, circumstances, and potential preventability of cardiac arrest in the young: insights from a state-wide clinical and forensic registry

Elizabeth D Paratz, Alexander van Heusden, Dominica Zentner, Natalie Morgan, Karen Smith, Tina Thompson, Paul James, Vanessa Connell, Andreas Pflaumer, Christopher Semsarian, Jodie Ingles, Sarah Parsons, Dion Stub, Andre La Gerche

Journal article  |  2022  |  EUROPACE

AIMS: The causes, circumstances, and preventability of young sudden cardiac arrest remain uncertain. METHODS AND RESULTS: A prospe..