Rosemary A. Bamford

Optimised fluorescence-activated nuclei sorting for epigenomic analysis of cortical cell types

The paper introduces optimized fluorescence-activated nuclei sorting (FANS) protocols to isolate cell-type-specific nuclei from human and mouse brain tissue for multi-omic analysis.

Cell-type-resolved DNA methylation profiling in the cortex reveals female-specific X chromosome differences in autism

The paper identifies cell-type-specific DNA methylation differences in autism, revealing female-specific X chromosome alterations in microglia.

Schizophrenia risk gene ZNF804A controls ribosome localization and synaptogenesis in developing human neurons

This study investigates the role of ZNF804A in human neurodevelopment, finding it regulates excitatory synapse formation through increased local protein translation in developing cortical glutamatergic neurons.

Modulating splicing in five prime untranslated regions to treat rare haploinsufficient disease

This study identifies 5'UTR exons containing uORFs as targets for splice-switching to increase protein translation in haploinsufficient disease genes.

Exploring the functions of JAKMIP1 in neuronal IL-6/STAT3 signaling and its relevance to chromosome 15q-duplication syndrome

This study investigates JAKMIP1's role in neuronal IL-6/STAT3 signaling and its implications for Dup15q syndrome, finding that JAKMIP1 deficiency impairs signaling and neuritogenesis.

Cell-type-specific DNA methylation dynamics in the prenatal and postnatal human cortex

This study identifies cell-type-specific DNA methylation dynamics in the human cortex across development, highlighting prenatal periods as critical for epigenomic plasticity and linking changes to neurodevelopmental disorders.

Guidance for the design and analysis of cell-type specific epigenetic epidemiology studies.

The paper provides guidance for designing and analyzing cell-type specific epigenetic epidemiology studies using DNA methylation data from purified cell populations.

An atlas of expressed transcripts in the prenatal and postnatal human cortex

The paper characterizes expressed transcripts in the human cortex across development, identifying novel coding sequences with clinical relevance.

CNTN4 modulates neural elongation through interplay with APP

This study identifies CNTN4's role in cortical development and shows its interaction with APP affects neural elongation and spine density.

Regulation of astrocyte metabolism by mitochondrial translocator protein 18kDa

This study investigates the role of TSPO in astrocyte metabolism and inflammation, finding that TSPO deficiency alters metabolic flexibility but not the inflammatory response to LPS.

Quantifying the proportion of different cell types in the human cortex using DNA methylation profiles

The paper develops and validates deconvolution models using DNA methylation data to estimate cell-type proportions in the human cortex, finding glial cells are twice as abundant as neurons and linking cell-type proportions to Alzheimer's disease neuropathology.

Long-read transcript sequencing identifies differential isoform expression in the entorhinal cortex in a transgenic model of tau pathology

The paper uses long-read transcript sequencing to identify differential isoform expression in the entorhinal cortex of tau transgenic mice, revealing novel isoforms and transcript associations with tau pathology.