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Federico Santoni
Federico Santoni
University Hospital of Lausanne
Verifisert e-postadresse på chuv.ch
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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
7472011
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
5052015
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
4482016
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
2992014
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
2142012
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
2122019
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
1912013
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
1832014
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
1762013
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
1572015
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
1332015
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
1222008
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
1122018
Biodoop: bioinformatics on hadoop
S Leo, F Santoni, G Zanetti
2009 International Conference on Parallel Processing Workshops, 415-422, 2009
1042009
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
952005
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
932018
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
892016
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
892014
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
882014
Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes
Plos One, 2014
872014
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Artikler 1–20