Marnie E. Blewitt

This study develops a novel mouse model for 3p25.3 microdeletion syndrome, showing it recapitulates key features and identifies Brpf1 as a contributor to congenital defects.

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 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 investigates how a maternal low protein diet affects kidney development in mice, revealing molecular and cellular changes that reduce nephron number.

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 characterizes MORC2 phosphorylation's role in DNA compaction and chromatin remodelling, showing it regulates ATP hydrolysis and DNA binding.

This paper develops D4Z4End2End, a workflow using long-read sequencing to characterize D4Z4 macrosatellite genetics and methylation in FSHD, BAMS, and reference cohorts, revealing new variants and methylation patterns.

This study uses adaptive nanopore sequencing to measure X inactivation skew in carrier females with X-linked retinal diseases, showing a strong correlation between skew and disease presentation.

This study shows that Suv39h enzymes are essential for organizing euchromatic regions and maintaining gene transcription by tethering H3K9me3 domains to the nuclear lamina.

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 serum iron, hepatic Tfrc expression, and erythropoietic activity exhibit circadian rhythms in mice, with opposing phases to optimize iron usage and storage.

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.

NanoMethViz provides an R/Bioconductor package for visualizing long-read methylation data, offering tools to explore methylation patterns at multiple resolutions.

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 paper develops a conditional KDM6b shRNA mouse model and shows that its knockdown reduces CD8+ T cell responses to influenza A infection without affecting T-BET expression.

The paper uses long-read nanopore sequencing to detect imprinted DNA methylation and identifies known and novel differentially methylated regions.

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

Glimma provides interactive graphics for gene expression analysis to enhance data exploration and sharing between bioinformaticians and biologists.