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Article

Convergence and divergence of molecular phenotypes in iPSC-derived models of 16p11.2 and 22q11.2 reciprocal copy number variants.

Current opinion in genetics & development - 1 Apr 2026

Rajkumar Sandeep, Bearden Carrie E, Sebat Jonathan, Iakoucheva Lilia M

Abstract excerpt

Deletions and duplications of 16p11.2 and 22q11.2, along with other copy number variants (CNVs), are strongly implicated in neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. While clinical data provide valuable insights, such data are limited in uncovering precise cellular and molecular mechanisms, and animal models often lack direct human relevance. Human induced pluripotent...

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PMID: 41690235
DOI: 10.1016/j.gde.2026.102441

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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