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Nature Communications|January 25, 2017
Telomeres in ICF syndrome cells are vulnerable to DNA damage due to elevated DNA:RNA hybridsShira Sagie, Shir Toubiana, Stella R Hartono, et al.Genome Research|February 24, 2023
The aberrant epigenome of DNMT3B-mutated ICF1 patient iPSCs is amenable to correction, with the exception of a subset of regions with H3K4me3- and/or CTCF-based epigenetic memoryVarsha Poondi Krishnan, Barbara Morone, Shir Toubiana, et al.Nucleic Acids Research|March 24, 2017
ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicingSole Gatto, Miriam Gagliardi, Monica Franzese, et al.Journal of Human Genetics|May 13, 2021
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric functionNadra Samra, Shir Toubiana, Hilde Yttervik, et al.Pageof 2