Federico Andrea Santoni
Federico Andrea Santoni
University Hospital of Lausanne
Verified email at unige.ch
Cited by
Cited by
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
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
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
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
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
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), 1-18, 2013
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
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
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
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
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
Biodoop: bioinformatics on hadoop
S Leo, F Santoni, G Zanetti
2009 International Conference on Parallel Processing Workshops, 415-422, 2009
Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans
D Contu, L Morelli, F Santoni, JW Foster, P Francalacci, F Cucca
PloS one 3 (1), e1430, 2008
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
Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes
Plos One, 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
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
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome
SI Nikolaev, F Santoni, A Vannier, E Falconnet, E Giarin, G Basso, ...
Blood, The Journal of the American Society of Hematology 122 (4), 554-561, 2013
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), 1-12, 2019
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
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