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Paul A James
Paul A James
Clinical Geneticist
在 petermac.org 的电子邮件经过验证
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引用次数
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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
10872014
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
7922016
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
4132017
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
3992016
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), 674-685, 2020
3652020
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
3612017
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
3342020
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
3292013
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
3262017
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
3102015
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
3052018
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
2902000
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
2802013
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
2562012
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
2392014
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
2242016
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
2152019
Panel testing for familial breast cancer: calibrating the tension between research and clinical care
ER Thompson, SM Rowley, N Li, S McInerny, L Devereux, ...
Journal of Clinical Oncology 34 (13), 1455-1459, 2016
1992016
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
1972006
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), 2240-2250, 2017
1892017
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