PubMed=24375627; DOI=10.1002/emmm.201302848; PMCID=PMC3927959
Youssef Hibaoui, Iwona Grad, Audrey Letourneau, M. Reza Sailani, Sophie Dahoun, Federico Andrea Santoni, Stefania Gimelli, Michel Guipponi, Marie-Francoise Pelte, Frederique Sloan-Bena, Stylianos E. Antonarakis, Anis Feki;
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.
EMBO Mol. Med. 6:259-277(2014)

PubMed=24740065; DOI=10.1038/nature13200
Audrey Letourneau, Federico Andrea Santoni, Ximena Bonilla, M. Reza Sailani, David Gonzalez, Jop Kind, Claire Chevalier, Robert Thurman, Richard S. Sandstrom, Youssef Hibaoui, Marco Garieri ...Show all 28 authors... , Konstantin Y. Popadin, Emilie Falconnet, Maryline Gagnebin, Corinne Gehrig, Anne Vannier, Michel Guipponi, Laurent Farinelli, Daniel Robyr, Eugenia Migliavacca, Christelle Borel, Samuel Deutsch, Anis Feki, John A. Stamatoyannopoulos, Yann Herault, Bas van Steensel, Roderic Guigo, Stylianos E. Antonarakis; Show fewer authors
Domains of genome-wide gene expression dysregulation in Down's syndrome.
Nature 508:345-350(2014)

PubMed=28190458; DOI=10.1016/j.ajhg.2017.01.028; PMCID=PMC5339288
Federico Andrea Santoni, Georgios Stamoulis, Marco Garieri, Emilie Falconnet, Pascale Ribaux, Christelle Borel, Stylianos E. Antonarakis;
Detection of imprinted genes by single-cell allele-specific gene expression.
Am. J. Hum. Genet. 100:444-453(2017)

PubMed=29089484; DOI=10.1038/s41467-017-01422-6; PMCID=PMC5663699
Yan-Sheng Liu, Christelle Borel, Li Li, Thomas Muller, Evan G. Williams, Pierre-Luc Germain, Marija Buljan, Tatjana Sajic, Paul J. Boersema, Wen-Guang Shao, Marco Faini ...Show all 15 authors... , Giuseppe Testa, Andreas Beyer, Stylianos E. Antonarakis, Ruedi Aebersold; Show fewer authors
Systematic proteome and proteostasis profiling in human trisomy 21 fibroblast cells.
Nat. Commun. 8:1212.1-1212.15(2017)

PubMed=30510006; DOI=10.1073/pnas.1806811115; PMCID=PMC6304968
Marco Garieri, Georgios Stamoulis, Xavier Blanc, Emilie Falconnet, Pascale Ribaux, Christelle Borel, Federico Andrea Santoni, Stylianos E. Antonarakis;
Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts.
Proc. Natl. Acad. Sci. U.S.A. 115:13015-13020(2018)