Skip to content

Search

Transcriptional landscape of Mycobacterium tuberculosis infection in macrophages

A comprehensive in depth gene expression/regulation profile in Mycobacterium tuberculosis-infected macrophages

A phenotype centric benchmark of variant prioritisation tools

We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.

Integrative CAGE and DNA Methylation Profiling Identify Epigenetically Regulated Genes in NSCLC

Epigenetically regulated genes have a great theranostic potential, especially in tumors with no apparent driver mutations.

Transcriptome Analysis Uncovers a Growth-Promoting Activity of Orosomucoid-1 on Hepatocytes

Orm1 is induced in response to hepatic injury and executes liver regeneration by activating cell cycle progression in hepatocytes

Systematic analysis of transcription start sites in avian development

CAGE in combination with single-molecule sequencing technology allows mapping of TSSs and genome-wide capture of promoter activities state cell populations.

Epigenome-wide meta-analysis of blood DNA methylation in newborns and children identifies numerous loci related to gestational age

We identified numerous CpGs differentially methylated in relation to gestational age at birth that appear to reflect fetal developmental processes across tissues

Personalised analytics for rare disease diagnostics

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype

Sensitization to immune checkpoint blockade through activation of a STAT1/NK axis in the tumor microenvironment

Our results identify a pretreatment tumor microenvironment that predicts response to immune checkpoint blockade, which can be therapeutically attained

The psychosocial impact of childhood dementia on children and their parents: a systematic review

Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.