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. 2021 Sep 21;12:732002. doi: 10.3389/fgene.2021.732002

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Copyright © 2021 Servetti, Pisciotta, Tassano, Cerminara, Nobili, Boeri, Rosti, Lerone, Divizia, Ronchetto and Puliti.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Duplications of topological domain boundaries (TDBs) potentially involved in the phenotype of patient IGGAC24 and patient IGGAC23. (A) Screenshot of chromosome 19 region encompassing the duplication of patient IGGAC24 (blue bar, chr19:55,948,706-56,471,996). TADs from Cortex, H1NPC and h-ESC cells. Brain-expressed genes (see Methods). Decipher patient with reported duplication (a. patient 338729) (B) Screenshot of chromosome 10 region encompassing the duplication of patient IGGAC23 (blue bar, chr10:125,121,038-127,119,447). Brain-expressed genes (see Methods). Decipher patients with reported duplications (a: patient 283429, b: patient 378968).