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Paul A James
Paul A James
Clinical Geneticist
Verified email at petermac.org
Title
Cited by
Cited by
Year
Breast-Cancer Risk in Families with Mutations in PALB2
AC Antoniou, S Casadei, T Heikkinen, D Barrowdale, K Pylkäs, J Roberts, ...
New England Journal of Medicine 371 (6), 497-506, 2014
10692014
A prospective study of sudden cardiac death among children and young adults
RD Bagnall, RG Weintraub, J Ingles, J Duflou, L Yeates, L Lam, AM Davis, ...
New England Journal of Medicine 374 (25), 2441-2452, 2016
7762016
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ...
Genetics in medicine 18 (11), 1090-1096, 2016
3982016
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
CM Phelan, KB Kuchenbaecker, JP Tyrer, SP Kar, K Lawrenson, ...
Nature genetics 49 (5), 680-691, 2017
3932017
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
RL Milne, KB Kuchenbaecker, K Michailidou, J Beesley, S Kar, ...
Nature genetics 49 (12), 1767-1778, 2017
3512017
Cancer risks associated with germline PALB2 pathogenic variants: an international study of 524 families
X Yang, G Leslie, A Doroszuk, S Schneider, J Allen, B Decker, ...
Journal of clinical oncology 38 (7), 674, 2020
3482020
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
FJ Couch, X Wang, L McGuffog, A Lee, C Olswold, KB Kuchenbaecker, ...
PLoS genetics 9 (3), e1003212, 2013
3282013
Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers
KB Kuchenbaecker, L McGuffog, D Barrowdale, A Lee, P Soucy, J Dennis, ...
JNCI: Journal of the National Cancer Institute 109 (7), djw302, 2017
3162017
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
KB Kuchenbaecker, SJ Ramus, J Tyrer, A Lee, HC Shen, J Beesley, ...
Nature genetics 47 (2), 164-171, 2015
3062015
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
H Zhang, TU Ahearn, J Lecarpentier, D Barnes, J Beesley, G Qi, X Jiang, ...
Nature genetics 52 (6), 572-581, 2020
3012020
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
TR Rebbeck, TM Friebel, E Friedman, U Hamann, D Huo, A Kwong, ...
Human mutation 39 (5), 593-620, 2018
2882018
Relation between troponin T concentration and mortality in patients presenting with an acute stroke: observational study
P James, CJ Ellis, RML Whitlock, AR McNeil, J Henley, NE Anderson
Bmj 320 (7248), 1502-1504, 2000
2872000
Cancer Risks for MLH1 and MSH2 Mutation Carriers
JG Dowty, AK Win, DD Buchanan, NM Lindor, FA Macrae, M Clendenning, ...
Human mutation 34 (3), 490-497, 2013
2742013
Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles
ER Thompson, MA Doyle, GL Ryland, SM Rowley, DYH Choong, ...
Public Library of Science 8 (9), e1002894, 2012
2542012
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology
GR Wilson, JCH Sim, C McLean, M Giannandrea, CA Galea, JR Riseley, ...
The American Journal of Human Genetics 95 (6), 729-735, 2014
2402014
Monogenic and polygenic determinants of sarcoma risk: an international genetic study
ML Ballinger, DL Goode, I Ray-Coquard, PA James, G Mitchell, ...
The Lancet Oncology 17 (9), 1261-1271, 2016
2192016
Interim results from the IMPACT study: evidence for prostate-specific antigen screening in BRCA2 mutation carriers
EC Page, EK Bancroft, MN Brook, M Assel, MH Al Battat, S Thomas, ...
European urology 76 (6), 831-842, 2019
2052019
Panel testing for familial breast cancer: calibrating the tension between research and clinical care
ER Thompson, SM Rowley, N Li, S McInerny, L Devereux, ...
J Clin Oncol 34 (13), 1455-1459, 2016
2002016
A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular …
S Ackerley, PA James, A Kalli, S French, KE Davies, K Talbot
Human molecular genetics 15 (2), 347-354, 2006
1982006
Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores
J Lecarpentier, V Silvestri, KB Kuchenbaecker, D Barrowdale, J Dennis, ...
Journal of Clinical Oncology 35 (20), 2240, 2017
1912017
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