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7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.
Adamo A, Atashpaz S, Germain PL, Zanella M, D'Agostino G, Albertin V, Chenoweth J, Micale L, Fusco C, Unger C, Augello B, Palumbo O, Hamilton B, Carella M, Donti E, Pruneri G, Selicorni A, Biamino E, Prontera P, McKay R, Merla G, Testa G. Adamo A, et al. Among authors: germain pl. Nat Genet. 2015 Feb;47(2):132-41. doi: 10.1038/ng.3169. Epub 2014 Dec 15. Nat Genet. 2015. PMID: 25501393
Cell reprogramming requires silencing of a core subset of polycomb targets.
Fragola G, Germain PL, Laise P, Cuomo A, Blasimme A, Gross F, Signaroldi E, Bucci G, Sommer C, Pruneri G, Mazzarol G, Bonaldi T, Mostoslavsky G, Casola S, Testa G. Fragola G, et al. Among authors: germain pl. PLoS Genet. 2013;9(2):e1003292. doi: 10.1371/journal.pgen.1003292. Epub 2013 Feb 28. PLoS Genet. 2013. PMID: 23468641 Free PMC article.
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells.
Liu Y, Borel C, Li L, Müller T, Williams EG, Germain PL, Buljan M, Sajic T, Boersema PJ, Shao W, Faini M, Testa G, Beyer A, Antonarakis SE, Aebersold R. Liu Y, et al. Among authors: germain pl. Nat Commun. 2017 Oct 31;8(1):1212. doi: 10.1038/s41467-017-01422-6. Nat Commun. 2017. PMID: 29089484 Free PMC article.
KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes.
Barbagiovanni G, Germain PL, Zech M, Atashpaz S, Lo Riso P, D'Antonio-Chronowska A, Tenderini E, Caiazzo M, Boesch S, Jech R, Haslinger B, Broccoli V, Stewart AF, Winkelmann J, Testa G. Barbagiovanni G, et al. Among authors: germain pl. Cell Rep. 2018 Oct 23;25(4):988-1001. doi: 10.1016/j.celrep.2018.09.067. Cell Rep. 2018. PMID: 30355503 Free PMC article.
Multi-omic measurements of heterogeneity in HeLa cells across laboratories.
Liu Y, Mi Y, Mueller T, Kreibich S, Williams EG, Van Drogen A, Borel C, Frank M, Germain PL, Bludau I, Mehnert M, Seifert M, Emmenlauer M, Sorg I, Bezrukov F, Bena FS, Zhou H, Dehio C, Testa G, Saez-Rodriguez J, Antonarakis SE, Hardt WD, Aebersold R. Liu Y, et al. Among authors: germain pl. Nat Biotechnol. 2019 Mar;37(3):314-322. doi: 10.1038/s41587-019-0037-y. Epub 2019 Feb 18. Nat Biotechnol. 2019. PMID: 30778230 Free article.
Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication.
Zanella M, Vitriolo A, Andirko A, Martins PT, Sturm S, O'Rourke T, Laugsch M, Malerba N, Skaros A, Trattaro S, Germain PL, Mihailovic M, Merla G, Rada-Iglesias A, Boeckx C, Testa G. Zanella M, et al. Among authors: germain pl. Sci Adv. 2019 Dec 4;5(12):eaaw7908. doi: 10.1126/sciadv.aaw7908. eCollection 2019 Dec. Sci Adv. 2019. PMID: 31840056 Free PMC article.
Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability.
Mihailovich M, Germain PL, Shyti R, Pozzi D, Noberini R, Liu Y, Aprile D, Tenderini E, Troglio F, Trattaro S, Fabris S, Ciptasari U, Rigoli MT, Caporale N, D'Agostino G, Mirabella F, Vitriolo A, Capocefalo D, Skaros A, Franchini AV, Ricciardi S, Biunno I, Neri A, Nadif Kasri N, Bonaldi T, Aebersold R, Matteoli M, Testa G. Mihailovich M, et al. Among authors: germain pl. J Clin Invest. 2024 Jul 15;134(14):e168982. doi: 10.1172/JCI168982. J Clin Invest. 2024. PMID: 39007270 Free PMC article.
46 results