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 | 1087 | 2014 |
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 | 792 | 2016 |
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 | 413 | 2017 |
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 | 399 | 2016 |
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 | 365 | 2020 |
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 | 361 | 2017 |
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 | 334 | 2020 |
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 | 329 | 2013 |
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 | 326 | 2017 |
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 | 310 | 2015 |
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 | 305 | 2018 |
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 | 290 | 2000 |
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 | 280 | 2013 |
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 | 256 | 2012 |
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 | 239 | 2014 |
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 | 224 | 2016 |
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 | 215 | 2019 |
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 | 199 | 2016 |
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 | 197 | 2006 |
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 | 189 | 2017 |