| A global reference for human genetic variation 1000 Genomes Project Consortium Nature 526 (7571), 68, 2015 | 16307 | 2015 |
| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8586 | 2012 |
| IFITM3 restricts the morbidity and mortality associated with influenza AR Everitt, S Clare, T Pertel, SP John, RS Wash, SE Smith, CR Chin, ... Nature 484 (7395), 519-523, 2012 | 868 | 2012 |
| A draft human pangenome reference WW Liao, M Asri, J Ebler, D Doerr, M Haukness, G Hickey, S Lu, JK Lucas, ... Nature 617 (7960), 312-324, 2023 | 606 | 2023 |
| Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel O Delaneau, J Marchini Nature communications 5 (1), 3934, 2014 | 467 | 2014 |
| Integrative annotation of variants from 1092 humans: application to cancer genomics E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang, T Lappalainen, A Sboner, ... Science 342 (6154), 1235587, 2013 | 427 | 2013 |
| Human genome diversity: frequently asked questions G Barbujani, V Colonna Trends in Genetics 26 (7), 285-295, 2010 | 148 | 2010 |
| Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes Q Ayub, L Moutsianas, Y Chen, K Panoutsopoulou, V Colonna, L Pagani, ... The American Journal of Human Genetics 94 (2), 176-185, 2014 | 106 | 2014 |
| Building pangenome graphs E Garrison, A Guarracino, S Heumos, F Villani, Z Bao, L Tattini, ... Nature Methods, 1-5, 2024 | 91 | 2024 |
| Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences V Colonna, Q Ayub, Y Chen, L Pagani, P Luisi, M Pybus, E Garrison, ... Genome biology 15, 1-14, 2014 | 91 | 2014 |
| Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations Y Xue, M Mezzavilla, M Haber, S McCarthy, Y Chen, V Narasimhan, ... Nature communications 8 (1), 15927, 2017 | 84 | 2017 |
| Long non-coding RNA containing ultraconserved genomic region 8 promotes bladder cancer tumorigenesis M Olivieri, M Ferro, S Terreri, M Durso, A Romanelli, C Avitabile, ... Oncotarget 7 (15), 20636, 2016 | 80 | 2016 |
| Recombination between heterologous human acrocentric chromosomes A Guarracino, S Buonaiuto, LG de Lima, T Potapova, A Rhie, S Koren, ... Nature 617 (7960), 335-343, 2023 | 76 | 2023 |
| Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies T McKerrell, T Moreno, H Ponstingl, N Bolli, JML Dias, G Tischler, ... Blood, The Journal of the American Society of Hematology 128 (1), e1-e9, 2016 | 72 | 2016 |
| Origins and evolution of the Etruscans’ mtDNA S Ghirotto, F Tassi, E Fumagalli, V Colonna, A Sandionigi, M Lari, S Vai, ... PLoS One 8 (2), e55519, 2013 | 64 | 2013 |
| The C. elegans pvf‐1 gene encodes a PDGF/VEGF‐like factor able to bind mammalian VEGF receptors and to induce angiogenesis M Tarsitano, S De Falco, V Colonna, JD McGhee, MG Persico The FASEB journal 20 (2), 227-233, 2006 | 59 | 2006 |
| Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants K Panoutsopoulou, K Hatzikotoulas, DK Xifara, V Colonna, AE Farmaki, ... Nature communications 5 (1), 5345, 2014 | 56 | 2014 |
| Genomic diversity and novel genome-wide association with fruit morphology in Capsicum, from 746k polymorphic sites V Colonna, N D’Agostino, E Garrison, A Albrechtsen, J Meisner, ... Scientific reports 9 (1), 10067, 2019 | 53 | 2019 |
| New susceptibility locus for hypertension on chromosome 8q by efficient pedigree-breaking in an Italian isolate M Ciullo, C Bellenguez, V Colonna, T Nutile, A Calabria, R Pacente, ... Human molecular genetics 15 (10), 1735-1743, 2006 | 51 | 2006 |
| Genome-wide meta-analysis of common variant differences between men and women V Boraska, A Jerončić, V Colonna, L Southam, DR Nyholt, ... Human Molecular Genetics 21 (21), 4805-4815, 2012 | 42 | 2012 |