PubMed=24375627; DOI=10.1002/emmm.201302848; PMCID=PMC3927959
Hibaoui Y., Grad I., Letourneau A., Sailani M.R., Dahoun S., Santoni F.A., Gimelli S., Guipponi M., Pelte M.-F., Sloan-Bena F., Antonarakis S.E., Feki A.
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
Letourneau A., Santoni F.A., Bonilla X., Sailani M.R., Gonzalez D., Kind J., Chevalier C., Thurman R., Sandstrom R.S., Hibaoui Y., Garieri M., Popadin K.Y., Falconnet E., Gagnebin M., Gehrig C., Vannier A., Guipponi M., Farinelli L., Robyr D., Migliavacca E., Borel C., Deutsch S., Feki A., Stamatoyannopoulos J.A., Herault Y., van Steensel B., Guigo R., Antonarakis S.E.
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
Santoni F.A., Stamoulis G., Garieri M., Falconnet E., Ribaux P., Borel C., Antonarakis S.E.
Detection of imprinted genes by single-cell allele-specific gene expression.
Am. J. Hum. Genet. 100:444-453(2017)

PubMed=30510006; DOI=10.1073/pnas.1806811115; PMCID=PMC6304968
Garieri M., Stamoulis G., Blanc X., Falconnet E., Ribaux P., Borel C., Santoni F.A., Antonarakis S.E.
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)