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Article

Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders.

Cell research - 1 Feb 2018

Jacob-Hirsch Jasmine, Eyal Eran, Knisbacher Binyamin A, Roth Jonathan, Cesarkas Karen, Dor Chen, Farage-Barhom Sarit, Kunik Vered, Simon Amos J, Gal Moran, Yalon Michal, Moshitch-Moshkovitz Sharon, Tearle Rick, Constantini Shlomi, Levanon Erez Y, Amariglio Ninette, Rechavi Gideon

Abstract excerpt

Neural progenitor cells undergo somatic retrotransposition events, mainly involving L1 elements, which can be potentially deleterious. Here, we analyze the whole genomes of 20 brain samples and 80 non-brain samples, and characterized the retrotransposition landscape of patients affected by a variety of neurodevelopmental disorders including Rett syndrome, tuberous sclerosis, ataxia-telangiectasia and autism. We...

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Identifiers

PMID: 29327725
DOI: 10.1038/cr.2018.8
PMCID: PMC5799824

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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