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Article

Functional impact of genetic background on variable expressivity in neurodevelopmental disorders.

Nature communications - 1 May 2026

Sun Jiawan, Noss Serena, Smolen Corrine, Bhavana Venkata Hemanjani, Banerjee Deepro, Das Maitreya, Giardine Belinda, Prabhu Anisha, Amor David J, Pope Kate, Lockhart Paul J, Girirajan Santhosh

Abstract excerpt

Disease-associated variants can lead to variable phenotypic outcomes in neurodevelopmental disorders, but the biological mechanisms underlying this variability remain poorly understood. Here, we develop a framework to investigate this phenomenon using the 16p12.1 deletion as a paradigm of variable expressivity. Using induced pluripotent stem cell models from affected families and CRISPR-edited lines with the...

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Identifiers

PMID: 42062284
DOI: 10.1038/s41467-026-72598-z
PMCID: PMC13338134

Genes

FOXG1
JUN

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