Megan Iminitoff

This study shows that Magel2 deficiency in a mouse model of Prader-Willi syndrome causes microglial structural changes and increased synaptic engulfment, altering neuron-microglia interactions and hypothalamic circuit function.

This study identifies the transcriptional regulatory mechanisms governing ERFE expression in human erythroblasts using genomic approaches.

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 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 regulator of long-range chromatin interactions, showing context-dependent effects on transcription and chromatin structure.