Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons
Sara Cuvertino, Evgenii Martirosian, Kedar Bhosale, Peiwen Cheng, Terence Garner, Ian J. Donaldson, Adam Jackson, Adam Stevens, Andrew D Sharrocks, Susan J. Kimber, Siddharth Banka
This study examines epigenome and transcriptome changes in KS1 iPSCs and neuronal differentiation stages, identifying altered H3K4 methylation and gene expression patterns.
PLoS Genetics · Sep 19, 2025Peer-reviewedGenetics