EMdeCODE: a novel algorithm capable of reading words of epigenetic code to predict enhancers and retroviral integration sites and to identify H3R2me1 as a distinctive mark of codin...

ανά Santoni, Federico Andrea
Έκδοση 2013

Deciphering the Code for Retroviral Integration Target Site Selection

ανά Santoni, Federico Andrea, Hartley, Oliver, Luban, Jeremy
Έκδοση 2010

HERV-H RNA is abundant in human embryonic stem cells and a precise marker for pluripotency

ανά Santoni, Federico A, Guerra, Jessica, Luban, Jeremy
Έκδοση 2012

CATCHing putative causative variants in consanguineous families

ανά Santoni, Federico Andrea, Makrythanasis, Periklis, Antonarakis, Stylianos E.
Τόπος έκδοσης BMC Bioinformatics (2015)

Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans

ανά Contu, Daniela, Morelli, Laura, Santoni, Federico, Foster, Jamie W., Francalacci, Paolo, Cucca, Francesco
Έκδοση 2008

A Comparison of Y-Chromosome Variation in Sardinia and Anatolia Is More Consistent with Cultural Rather than Demic Diffusion of Agriculture

ανά Morelli, Laura, Contu, Daniela, Santoni, Federico, Whalen, Michael B., Francalacci, Paolo, Cucca, Francesco
Έκδοση 2010

TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm

ανά De Iaco, Alberto, Santoni, Federico, Vannier, Anne, Guipponi, Michel, Antonarakis, Stylianos, Luban, Jeremy
Έκδοση 2013

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

ανά Porcu, Eleonora, Rüeger, Sina, Lepik, Kaido, Santoni, Federico A., Reymond, Alexandre, Kutalik, Zoltán
Τόπος έκδοσης Nat Commun (2019)

Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

ανά Hibaoui, Youssef, Grad, Iwona, Letourneau, Audrey, Santoni, Federico A., Antonarakis, Stylianos E., Feki, Anis
Τόπος έκδοσης Genom Data (2014)

AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts

ανά Lavorgna, Giovanni, Triunfo, Riccardo, Santoni, Federico, Orfanelli, Ugo, Noci, Sara, Bulfone, Alessandro, Zanetti, Gianluigi, Casari, Giorgio
Έκδοση 2005

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

ανά Santoni, Federico A., Makrythanasis, Periklis, Nikolaev, Sergey, Guipponi, Michel, Robyr, Daniel, Bottani, Armand, Antonarakis, Stylianos E.
Έκδοση 2014

Next generation diagnostics on cardiomyopathy

ανά Blouin, Jean-Louis, Bevillard, Jeremy, Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico, Antonarakis, Stylianos E, Fokstuen, Siv
Έκδοση 2014

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression

ανά Santoni, Federico A., Stamoulis, Georgios, Garieri, Marco, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Antonarakis, Stylianos E.
Τόπος έκδοσης Am J Hum Genet (2017)

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

ανά Garieri, Marco, Stamoulis, Georgios, Blanc, Xavier, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Santoni, Federico, Antonarakis, Stylianos E.
Τόπος έκδοσης Proc Natl Acad Sci U S A (2018)

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

ανά Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.
Τόπος έκδοσης Hum Genomics (2016)

Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene

ανά Marino, Laura, Messina, Andrea, S Acierno, James, Phan-Hug, Franziska, J Niederländer, Nicolas, Santoni, Federico, La Rosa, Stefano, Pitteloud, Nelly
Τόπος έκδοσης Endocrinol Diabetes Metab Case Rep (2021)

The effect of genetic variation on promoter usage and enhancer activity

ανά Garieri, Marco, Delaneau, Olivier, Santoni, Federico, Fish, Richard J., Mull, David, Carninci, Piero, Dermitzakis, Emmanouil T., Antonarakis, Stylianos E., Fort, Alexandre
Τόπος έκδοσης Nat Commun (2017)

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells

ανά Letourneau, Audrey, Cobellis, Gilda, Fort, Alexandre, Santoni, Federico, Garieri, Marco, Falconnet, Emilie, Ribaux, Pascale, Vannier, Anne, Guipponi, Michel, Carninci, Piero, Borel, Christelle, Antonarakis, Stylianos E.
Τόπος έκδοσης PLoS One (2015)

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations

ανά Nikolaev, Sergey I, Garieri, Marco, Santoni, Federico, Falconnet, Emilie, Ribaux, Pascale, Guipponi, Michel, Murray, Aoife, Groet, Jürgen, Giarin, Emanuela, Basso, Giuseppe, Nizetic, Dean, Antonarakis, Stylianos E
Τόπος έκδοσης Nat Commun (2014)

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

ανά Stamoulis, Georgios, Garieri, Marco, Makrythanasis, Periklis, Letourneau, Audrey, Guipponi, Michel, Panousis, Nikolaos, Sloan-Béna, Frédérique, Falconnet, Emilie, Ribaux, Pascale, Borel, Christelle, Santoni, Federico, Antonarakis, Stylianos E.
Τόπος έκδοσης Nat Commun (2019)