Kelsey A. Breslin

This study shows that SMCHD1's weak DNA binding is essential for its chromatin retention and function, revealing how DNA binding affects its localization and gene repression.

This study identifies SMCHD1 as a target for gene-activation therapy in Prader-Willi Syndrome by showing its role in repressing the PWS gene cluster and demonstrating gene activation in mouse models.

This study identifies a second DNA-binding site in SMCHD1 and shows that DNA binding stimulates its ATPase activity, revealing a mechanism for gene silencing.

This study identifies a mutation in SMCHD1 that enhances gene silencing and disrupts developmental processes, revealing distinct roles of SMCHD1 in chromatin structure and gene regulation.

This study shows maternal SMCHD1 prevents premature Hox gene activation in mouse embryos, leading to posterior homeotic transformations when absent.

This study shows maternal SMCHD1 is essential for imprinted Xist expression and X chromosome inactivation in mouse embryos and placenta.

This study analyzes nanopore long-read RNA-seq data using short-read tools to assess differential gene and isoform expression in synthetic and mouse datasets.

This study identifies Smchd1 as a maternal effect gene that regulates imprinted expression of 16 genes by translating polycomb-mediated histone methylation marks into a heritable chromatin state.

This study identifies Smchd1 as a regulator of long-range chromatin interactions, showing context-dependent effects on transcription and chromatin structure.