| TRIM5 is an innate immune sensor for the retrovirus capsid lattice T Pertel, S Hausmann, D Morger, S Züger, J Guerra, J Lascano, ... Nature 472 (7343), 361-365, 2011 | 762 | 2011 |
| HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation A Rosa, A Chande, S Ziglio, V De Sanctis, R Bertorelli, SL Goh, ... Nature 526 (7572), 212-217, 2015 | 518 | 2015 |
| Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma X Bonilla, L Parmentier, B King, F Bezrukov, G Kaya, V Zoete, ... Nature genetics 48 (4), 398-406, 2016 | 478 | 2016 |
| Domains of genome-wide gene expression dysregulation in Down’s syndrome A Letourneau, FA Santoni, X Bonilla, MR Sailani, D Gonzalez, J Kind, ... Nature 508 (7496), 345-350, 2014 | 309 | 2014 |
| Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits E Porcu, S Rüeger, K Lepik, FA Santoni, A Reymond, Z Kutalik Nature communications 10 (1), 3300, 2019 | 240 | 2019 |
| HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency FA Santoni, J Guerra, J Luban Retrovirology 9 (111), 2012 | 219 | 2012 |
| TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm A De Iaco, F Santoni, A Vannier, M Guipponi, S Antonarakis, J Luban Retrovirology 10, 1-18, 2013 | 198 | 2013 |
| Modelling and rescuing neurodevelopmental defect of D own syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 Y Hibaoui, I Grad, A Letourneau, MR Sailani, S Dahoun, FA Santoni, ... EMBO molecular medicine 6 (2), 259-277, 2014 | 184 | 2014 |
| Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia DJ Moore, A Onoufriadis, A Shoemark, MA Simpson, PI Zur Lage, ... The American Journal of Human Genetics 93 (2), 346-356, 2013 | 182 | 2013 |
| A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) E Giorgio, D Robyr, M Spielmann, E Ferrero, E Di Gregorio, D Imperiale, ... Human molecular genetics 24 (11), 3143-3154, 2015 | 169 | 2015 |
| Biased allelic expression in human primary fibroblast single cells C Borel, PG Ferreira, F Santoni, O Delaneau, A Fort, KY Popadin, ... The American Journal of Human Genetics 96 (1), 70-80, 2015 | 136 | 2015 |
| Prospective isolation of functionally distinct radial glial subtypes—lineage and transcriptome analysis L Pinto, MT Mader, M Irmler, M Gentilini, F Santoni, D Drechsel, R Blum, ... Molecular and Cellular Neuroscience 38 (1), 15-42, 2008 | 123 | 2008 |
| Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures D Cassatella, SR Howard, JS Acierno, C Xu, GE Papadakis, FA Santoni, ... European journal of endocrinology 178 (4), 377-388, 2018 | 117 | 2018 |
| Biodoop: bioinformatics on hadoop S Leo, F Santoni, G Zanetti 2009 International Conference on Parallel Processing Workshops, 415-422, 2009 | 104 | 2009 |
| Increase in 20–50 Hz (gamma frequencies) power spectrum and synchronization after chronic vagal nerve stimulation F Marrosu, F Santoni, M Puligheddu, L Barberini, A Maleci, F Ennas, ... Clinical neurophysiology 116 (9), 2026-2036, 2005 | 97 | 2005 |
| Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts M Garieri, G Stamoulis, X Blanc, E Falconnet, P Ribaux, C Borel, ... Proceedings of the National Academy of Sciences 115 (51), 13015-13020, 2018 | 95 | 2018 |
| Pathogenic variants in PIGG cause intellectual disability with seizures and hypotonia P Makrythanasis, M Kato, MS Zaki, H Saitsu, K Nakamura, FA Santoni, ... The American Journal of Human Genetics 98 (4), 615-626, 2016 | 93 | 2016 |
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma S Nikolaev, F Santoni, M Garieri, P Makrythanasis, E Falconnet, ... Nature communications 5 (1), 5690, 2014 | 92 | 2014 |
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families P Makrythanasis, M Nelis, FA Santoni, M Guipponi, A Vannier, F Béna, ... Human mutation 35 (10), 1203-1210, 2014 | 91 | 2014 |
| The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome MR Sailani, P Makrythanasis, A Valsesia, FA Santoni, S Deutsch, ... Genome research 23 (9), 1410-1421, 2013 | 88 | 2013 |
Stylianos E. AntonarakisProfessor of Genetic Medicine, University of Geneva Medical SchoolVerified email at unige.ch
