Main publications

“TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm”, De Iaco A, Santoni FA, Vannier A, Guipponi M, Antonarakis S, Luban J, Retrovirology, 10:20, 2013

“Multiplex Targeted High Throughput Sequencing for mendelian cardiac disorders”, Fokstuen S, Makrythanasis P, Nikolaev S, Santoni FA et al., Clinical Genetics, DOI: 10.1111/cge.12168, 2013

“HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency”, Santoni FA, Guerra J, Luban J, Retrovirology, 9:111, Dec 2012

“EMdeCODE: a novel algorithm capable of reading words of epigenetic code to predict enhancers and retroviral integration sites and identify H3R2me1 as a distinctive mark of coding versus non-coding genes”,Santoni FA, Nucleic Acids Research, doi: 10.1093/nar/gks1214,2012

“A single nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas”, Nikolaev S, SotiriouS, Pateras I, Santoni F et al., ., Cancer Research, 72-6279, 2012

“TRIM5 is an innate immune sensor for HIV-1 and other retroviruses”, Pertel T, Hausmann S, Morger D, Züger S, Guerra J, Lascano J, Reinhard C, Santoni F, Uchil P, Pizzato M, Grütter M, Luban J,  Nature, 472(7343):361-5 , 2011

“Deciphering the code of retroviral integration site selection”, Santoni F, Hartley O, Luban J, PLoS Comput Biol 6(11): e1001008doi:10.1371/journal.pcbi.1001008, 2010

“A Comparison of Y-Chromosome Variation in Sardinia and Anatolia Is More Consistent with Cultural Rather than Demic Diffusion of Agriculture”,Morelli L, Contu D, Santoni F, et al, PLoS ONE, V: 5 I: 4 , 2010

“Biodoop: Bioinformatics on Hadoop”, Leo S, Santoni F, Zanetti G,Proceedings of the 2009 International Conference on Parallel Processing Workshops, PP. 415-422, Wien 2009

"Prospective isolation of functionally distinct radial glia subtypes - lineage and transcriptome analysis", Pinto L, …, Santoni F et al, Molecular and Cellular Neuroscience; 38(1):15-42,2008

“Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans”, Contu D, Morelli L, Santoni F, Foster JW, Francalacci P, Cucca F, PLoS ONE 3(1): e1430.doi:10.1371/ journal.pone.0001430, 2008

"Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia" – Pitzalis M, …, Santoni F et al, BMC Medical Genetics, 9:3, 2008

“Parallelizing bioinformatics applications with MapReduce”, Leo S, Santoni F et al, Cloud Computing and Applications CCA08, Chicago 2008.

“AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts”- Lavorgna G, Triunfo R, Santoni F et al, Nucleic Acid Research, vol.33, W665-W668, 2005

“GABA(B) receptor activation exacerbates spontaneous spike-and-wave discharges in DBA/2J mice”, Bortolato M, …, Santoni F et al, Seizure-European Journal of Epilepsy, V19:I4:pp.226-231, 2010.

“Beta and Gamma Range EEG Power-Spectrum Correlation with Spiking Discharges in DBA/2J Mice Absence Model: Role of GABA Receptors.”, Marrosu F, Santoni F et al, Epilepsia, pp.47:489-94, 2006

“Increase in 20-50 Hz (Gamma frequencies) power spectrum and synchronization after chronic Vagal Nerve Stimulation.”, Marrosu F, Santoni F et al., Clinical Neurophysiology, 116(9): pp.2026-36, 2005

“20-50Hz EEG Frequencies (Gamma band) power spectrum and synchronization increase after vagal nerve stimulation (VNS) in refractory partial epilepsy”, Marrosu F, Santoni F et al., Suppl. to Neurological Sciences, vol18, paggP101-P104, Springer-Verlag, 2004

“EEG analysis in cerebral death conditions using Wavelet Packet Decomposition”, Santoni F, Marrosu F, Mathematical Modeling & Computing in Biology and Medicine, pp. 110-117, ed. ESCULAPIO, Milano 2003

“Artifact problems solution in computerized electroencephalographic evaluation of the electroclinical silence (brain death)” – Santoni F, Marrosu F et al, Suppl. to Neurological Sciences, vol.23, S84-S85, Springer-Verlag, 2002

Selected Conferences (oral contributions)

“ Identifying genetic determinants of congenital heart defect in Down syndrome.” M. R. Sailani, …, F. Santoni et al. ASHG Annual Meeting, San Francisco, 2012

“ Transcriptome-wide decreased variation in gene expression of Down syndrome fibroblasts: Selection or canalization?”, K. Popadin, A. Letourneau, F. Santoni, S. E. Antonarakis,  ASHG Annual Meeting, San Francisco, 2012

“Human Pancreas Agenesis and Cardiac Malformation Syndrome Due to a GATA6 Gene Defect”, Jean-Louis Blouin, Bevillard J, Vannier A, Gehrig C, Guipponi M, Santoni F, Schwitzgebel V, Endocr Rev, Vol. 33 03_Meeting Abstracts): SAT-609, 2012

“Deciphering the code of retroviral integration site selection”, Santoni F, Luban J, Annual Retrovirology Meeting, Cold Spring Harbor (NY), 2010

“Parallelizing bioinformatics applications with MapReduce”, Leo S, Santoni F et al, Cloud Computing and Applications CCA08, Chicago 2008.

“Simplifying parallel computing for bioinformatics applications with MapReduce”, Leo S, Santoni F et al., Grand Challenges in Computational Biology Conference, Barcelona 2008.

“Different GABAB-mediated modulation of spike-wave discharges in DBA2J mice and its possible role in the pathophysiology of absence models”, Marrosu F, Santoni F et al., XXXVII Congress of the Italian Neurological Society, Bari, 2006

“Long Term Vagus Nerve Stimulation (VNS) Modifies EEG Coherences And Frequency Power Spectrum In Partial Epilepsy”, Marrosu F, Santoni F, 26^th International Epilepsy Congress, Paris, 2005

“Levetiracetam decreases spontaneous spiking activity and increase EEG gamma frequencies in DBA2J mice:role of GABAB receptors”, Mereu G, Fa M, Santoni F et al, 26^th International Epilepsy Congress, Paris, 2005

“AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts”, Lavorgna G, Triunfo R, Santoni F et al, Bioinformatics Italian Society Annual Meeting, Milano, 2005

“EEG analysis in cerebral death conditions using Wavelet Packet Decomposition”, Santoni F, Marrosu F, V Conference of European Society of Mathematical and Theoretical Biology, Milano 2002