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snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis.
Zheng D, Wondergem A, Kloet S, Willemsen I, Balog J, Tapscott SJ, Mahfouz A, van den Heuvel A, van der Maarel SM. Zheng D, et al. Among authors: willemsen i. Hum Mol Genet. 2024 Jan 20;33(3):284-298. doi: 10.1093/hmg/ddad186. Hum Mol Genet. 2024. PMID: 37934801 Free PMC article.
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
Goossens R, van den Boogaard ML, Lemmers RJLF, Balog J, van der Vliet PJ, Willemsen IM, Schouten J, Maggio I, van der Stoep N, Hoeben RC, Tapscott SJ, Geijsen N, Gonçalves MAFV, Sacconi S, Tawil R, van der Maarel SM. Goossens R, et al. Among authors: willemsen im. J Med Genet. 2019 Dec;56(12):828-837. doi: 10.1136/jmedgenet-2019-106402. Epub 2019 Nov 1. J Med Genet. 2019. PMID: 31676591