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| Landscape of somatic mutations in 560 breast cancer whole-genome sequences S Nik-Zainal, H Davies, J Staaf, M Ramakrishna, D Glodzik, X Zou, ... Nature 534 (7605), 47-54, 2016 | 2363 | 2016 |
| The sequences of 150,119 genomes in the UK Biobank BV Halldorsson, HP Eggertsson, KHS Moore, H Hauswedell, O Eiriksson, ... Nature 607 (7920), 732-740, 2022 | 331 | 2022 |
| Epigenetic silencing and deletion of the BRCA1gene in sporadic breast cancer V Birgisdottir, OA Stefansson, SK Bodvarsdottir, H Hilmarsdottir, ... Breast cancer research 8, 1-10, 2006 | 323 | 2006 |
| Characterizing mutagenic effects of recombination through a sequence-level genetic map BV Halldorsson, G Palsson, OA Stefansson, H Jonsson, MT Hardarson, ... Science 363 (6425), eaau1043, 2019 | 312 | 2019 |
| Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits D Beyter, H Ingimundardottir, A Oddsson, HP Eggertsson, E Bjornsson, ... Nature genetics 53 (6), 779-786, 2021 | 262 | 2021 |
| Genomic profiling of breast tumours in relation to BRCAabnormalities and phenotypes OA Stefansson, JG Jonasson, OT Johannsson, K Olafsdottir, ... Breast Cancer Research 11, 1-14, 2009 | 205 | 2009 |
| A DNA methylation-based definition of biologically distinct breast cancer subtypes OA Stefansson, S Moran, A Gomez, S Sayols, C Arribas-Jorba, ... Molecular oncology 9 (3), 555-568, 2015 | 203 | 2015 |
| DNA methylation profiling in breast cancer discordant identical twins identifies DOK7 as novel epigenetic biomarker H Heyn, FJ Carmona, A Gomez, HJ Ferreira, JT Bell, S Sayols, K Ward, ... Carcinogenesis 34 (1), 102-108, 2013 | 198 | 2013 |
| Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis U Styrkarsdottir, SH Lund, G Thorleifsson, F Zink, OA Stefansson, ... Nature genetics 50 (12), 1681-1687, 2018 | 183 | 2018 |
| A DNA repair pathway–focused score for prediction of outcomes in ovarian cancer treated with platinum-based chemotherapy J Kang, AD D’Andrea, D Kozono Journal of the National Cancer Institute 104 (9), 670-681, 2012 | 182 | 2012 |
| Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women V Steinthorsdottir, R McGinnis, NO Williams, L Stefansdottir, ... Nature communications 11 (1), 5976, 2020 | 173 | 2020 |
| BRCA1 epigenetic inactivation predicts sensitivity to platinum-based chemotherapy in breast and ovarian cancer OA Stefansson, A Villanueva, A Vidal, L Martí, M Esteller Epigenetics 7 (11), 1225-1229, 2012 | 167 | 2012 |
| Differences between germline genomes of monozygotic twins H Jonsson, E Magnusdottir, HP Eggertsson, OA Stefansson, GA Arnadottir, ... Nature genetics 53 (1), 27-34, 2021 | 149 | 2021 |
| CpG island hypermethylation of BRCA1 and loss of pRb as co-occurring events in basal/triple-negative breast cancer OA Stefansson, JG Jonasson, K Olafsdottir, H Hilmarsdottir, G Olafsdottir, ... Epigenetics 6 (5), 638-649, 2011 | 139 | 2011 |
| Genome-wide analysis yields new loci associating with aortic valve stenosis A Helgadottir, G Thorleifsson, S Gretarsdottir, OA Stefansson, V Tragante, ... Nature communications 9 (1), 987, 2018 | 135 | 2018 |
| A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis RP Kristjansson, S Benonisdottir, OB Davidsson, A Oddsson, V Tragante, ... Nature genetics 51 (2), 267-276, 2019 | 120 | 2019 |
| Epigenetic modifications in breast cancer and their role in personalized medicine OA Stefansson, M Esteller The American journal of pathology 183 (4), 1052-1063, 2013 | 118 | 2013 |
| Linkage of DNA methylation quantitative trait loci to human cancer risk H Heyn, S Sayols, C Moutinho, E Vidal, JV Sanchez-Mut, OA Stefansson, ... Cell reports 7 (2), 331-338, 2014 | 106 | 2014 |
| Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits T Rafnar, B Gunnarsson, OA Stefansson, P Sulem, A Ingason, ML Frigge, ... Nature communications 9 (1), 3636, 2018 | 105 | 2018 |