| Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci FR Schumacher, AA Al Olama, SI Berndt, S Benlloch, M Ahmed, ... Nature genetics 50 (7), 928-936, 2018 | 894 | 2018 |
| Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine P Gormley, V Anttila, BS Winsvold, P Palta, T Esko, TH Pers, KH Farh, ... Nature genetics 48 (8), 856-866, 2016 | 793 | 2016 |
| Integrated molecular characterization of testicular germ cell tumors H Shen, J Shih, DP Hollern, L Wang, R Bowlby, SK Tickoo, V Thorsson, ... Cell reports 23 (11), 3392-3406, 2018 | 414 | 2018 |
| Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction DV Conti, BF Darst, LC Moss, EJ Saunders, X Sheng, A Chou, ... Nature genetics 53 (1), 65-75, 2021 | 394 | 2021 |
| Lessons learned from additional research analyses of unsolved clinical exome cases MK Eldomery, Z Coban-Akdemir, T Harel, JA Rosenfeld, T Gambin, ... Genome medicine 9, 1-15, 2017 | 243 | 2017 |
| Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features D Lessel, B Vaz, S Halder, PJ Lockhart, I Marinovic-Terzic, ... Nature genetics 46 (11), 1239-1244, 2014 | 232 | 2014 |
| Large-scale transcriptome-wide association study identifies new prostate cancer risk regions N Mancuso, S Gayther, A Gusev, W Zheng, KL Penney, Z Kote-Jarai, ... Nature communications 9 (1), 4079, 2018 | 152 | 2018 |
| Chromatin retention of DNA damage sensors DDB2 and XPC through loss of p97 segregase causes genotoxicity. NH Puumalainen MR, Lessel D, Rüthemann P, Kaczmarek N Nature Communications, 2014 | 138 | 2014 |
| Recessive mutations in VPS13D cause childhood onset movement disorders J Gauthier, IA Meijer, D Lessel, NE Mencacci, D Krainc, M Hempel, ... Annals of neurology 83 (6), 1089-1095, 2018 | 132 | 2018 |
| Shared heritability and functional enrichment across six solid cancers X Jiang, HK Finucane, FR Schumacher, SL Schmit, JP Tyrer, Y Han, ... Nature communications 10 (1), 431, 2019 | 130 | 2019 |
| Phenotypes and genotypes in individuals with SMC1A variants S Huisman, PA Mulder, E Redeker, I Bader, AM Bisgaard, A Brooks, ... American journal of medical genetics Part A 173 (8), 2108-2125, 2017 | 123 | 2017 |
| Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor Z Wang, KA McGlynn, E Rajpert-De Meyts, DT Bishop, CC Chung, ... Nature genetics 49 (7), 1141-1147, 2017 | 116 | 2017 |
| De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome JH Kim, DN Shinde, MRF Reijnders, NS Hauser, RL Belmonte, GR Wilson, ... The American Journal of Human Genetics 99 (3), 711-719, 2016 | 115 | 2016 |
| WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects K Yokote, S Chanprasert, L Lee, K Eirich, M Takemoto, A Watanabe, ... Human mutation 38 (1), 7-15, 2017 | 113 | 2017 |
| BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells D Lessel, C Gehbauer, NC Bramswig, C Schluth-Bolard, ... Brain 141 (8), 2299-2311, 2018 | 112 | 2018 |
| Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants T Dadaev, EJ Saunders, PJ Newcombe, E Anokian, DA Leongamornlert, ... Nature communications 9 (1), 2256, 2018 | 110 | 2018 |
| Common variant burden contributes to the familial aggregation of migraine in 1,589 families P Gormley, MI Kurki, ME Hiekkala, K Veerapen, P Häppölä, AA Mitchell, ... Neuron 98 (4), 743-753. e4, 2018 | 108 | 2018 |
| WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations K Friedrich, L Lee, DF Leistritz, G Nürnberg, B Saha, FM Hisama, ... Human genetics 128, 103-111, 2010 | 108 | 2010 |
| KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants J Kennedy, D Goudie, E Blair, K Chandler, S Joss, V McKay, A Green, ... Genetics in medicine 21 (4), 850-860, 2019 | 105 | 2019 |
| De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder D Lessel, C Schob, S Küry, MRF Reijnders, T Harel, MK Eldomery, ... The American Journal of Human Genetics 101 (5), 716-724, 2017 | 100 | 2017 |