| Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer SE Bojesen, KA Pooley, SE Johnatty, J Beesley, K Michailidou, JP Tyrer, ... Nature genetics 45 (4), 371-384, 2013 | 645 | 2013 |
| Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer TR Rebbeck, N Mitra, F Wan, OM Sinilnikova, S Healey, L McGuffog, ... Jama 313 (13), 1347-1361, 2015 | 547 | 2015 |
| 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 | 350 | 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 | 328 | 2013 |
| 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 | 307 | 2015 |
| Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study EK Bancroft, EC Page, E Castro, H Lilja, A Vickers, D Sjoberg, M Assel, ... European urology 66 (3), 489-499, 2014 | 290 | 2014 |
| 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 | 289 | 2018 |
| 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 | 191 | 2017 |
| The extended clinical phenotype of 26 patients with chronic mucocutaneous candidiasis due to gain-of-function mutations in STAT1 M Depner, S Fuchs, J Raabe, N Frede, C Glocker, R Doffinger, ... Journal of clinical immunology 36, 73-84, 2016 | 145 | 2016 |
| Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of … AM Mulligan, FJ Couch, D Barrowdale, SM Domchek, D Eccles, ... Breast Cancer Research 13, 1-20, 2011 | 140 | 2011 |
| Risk‐reducing mastectomy and salpingo‐oophorectomy in unaffected BRCA mutation carriers: uptake and timing* AB Skytte, AM Gerdes, MK Andersen, L Sunde, K Brøndum‐Nielsen, ... Clinical genetics 77 (4), 342-349, 2010 | 119 | 2010 |
| Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers AC Antoniou, KB Kuchenbaecker, P Soucy, J Beesley, X Chen, ... Breast Cancer Research 14, 1-18, 2012 | 115 | 2012 |
| Breast cancer after bilateral risk‐reducing mastectomy AB Skytte, D Crüger, M Gerster, AV Lænkholm, C Lang, ... Clinical genetics 79 (5), 431-437, 2011 | 85 | 2011 |
| Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation … FJ Couch, MM Gaudet, AC Antoniou, SJ Ramus, KB Kuchenbaecker, ... Cancer epidemiology, biomarkers & prevention 21 (4), 645-657, 2012 | 73 | 2012 |
| Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers SJ Ramus, AC Antoniou, KB Kuchenbaecker, P Soucy, J Beesley, X Chen, ... Human mutation 33 (4), 690-702, 2012 | 63 | 2012 |
| Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes J Whitworth, PS Smith, JE Martin, H West, A Luchetti, F Rodger, G Clark, ... The American Journal of Human Genetics 103 (1), 3-18, 2018 | 60 | 2018 |
| Multilocus inherited neoplasia alleles syndrome: a case series and review J Whitworth, AB Skytte, L Sunde, DH Lim, MJ Arends, L Happerfield, ... JAMA oncology 2 (3), 373-379, 2016 | 60 | 2016 |
| Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness VL Patel, EL Busch, TM Friebel, A Cronin, G Leslie, L McGuffog, J Adlard, ... Cancer research 80 (3), 624-638, 2020 | 54 | 2020 |
| Estimating the effect size of the 15Q11. 2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice AE Jønch, E Douard, C Moreau, A Van Dijck, M Passeggeri, F Kooy, ... Journal of Medical Genetics 56 (10), 701-710, 2019 | 51 | 2019 |
| Dosage changes of a segment at 17p13. 1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes CMB Carvalho, S Vasanth, M Shinawi, C Russell, MB Ramocki, ... The American Journal of Human Genetics 95 (5), 565-578, 2014 | 47 | 2014 |
Lone SundeMD, PhD, Professor, Institute of Biomedicine, Aarhus UniversityVerified email at rm.dk
