Article

Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

2022-05-13

Abstract excerpt

<h4>SUMMARY</h4> Recurrent deletion and duplication of ∼743 kilobases of unique genomic sequence and segmental duplications at chromosome 16p11.2 underlie a reciprocal genomic disorder (RGD; OMIM 611913 and 614671) associated with neurodevelopmental and psychiatric phenotypes, including intellectual disability, autism spectrum disorder (ASD), and schizophrenia (SCZ). To define molecular alterations associated wit...

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Literature Corpus work: 5aea737b-9a49-5e3b-a72d-7046d6b6f198
DOI: 10.1101/2022.05.12.491670

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