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Article

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.

Nature genetics - 1 Feb 2015

Adamo Antonio, Atashpaz Sina, Germain Pierre-Luc, Zanella Matteo, D'Agostino Giuseppe, Albertin Veronica, Chenoweth Josh, Micale Lucia, Fusco Carmela, Unger Christian, Augello Bartolomeo, Palumbo Orazio, Hamilton Brad, Carella Massimo, Donti Emilio, Pruneri Giancarlo, Selicorni Angelo, Biamino Elisa, Prontera Paolo, McKay Ronald, Merla Giuseppe, Testa Giuseppe

Abstract excerpt

Cell reprogramming promises to make characterization of the impact of human genetic variation on health and disease experimentally tractable by enabling the bridging of genotypes to phenotypes in developmentally relevant human cell lineages. Here we apply this paradigm to two disorders caused by...

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Share to Chromosomes, Human, Pair 7
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25501393
DOI: 10.1038/ng.3169

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25501393-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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