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Article

Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene.

ACS chemical neuroscience - 15 Nov 2023

Kostic Milos, Raymond Joseph J, Freyre Christophe A C, Henry Beata, Tumkaya Tayfun, Khlghatyan Jivan, Dvornik Jill, Li Jingyao, Hsiao Jack S, Cheon Seon Hye, Chung Jonathan, Sun Yishan, Dolmetsch Ricardo E, Worringer Kathleen A, Ihry Robert J

Abstract excerpt

Copy number variants (CNVs) that delete or duplicate 30 genes within the 16p11.2 genomic region give rise to a range of neurodevelopmental phenotypes with high penetrance in humans. Despite the identification of this small region, the mechanisms by which 16p11.2 CNVs lead to disease are unclear. Relevant models, such as human cortical organoids (hCOs), are needed to understand the human-specific mechanisms of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37903506
DOI: 10.1021/acschemneuro.3c00442
PMCID: PMC10655044

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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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