Simon Cockell

This study identifies non-canonical NF-κB signalling as a therapeutic target in CYLD cutaneous syndrome and shows that IKK inhibition reduces tumor viability in patient-derived models.

STExplorer applies computational geography methods to spatial transcriptomics data to uncover spatially resolved patterns and heterogeneity.

This study shows RBMX and RBMXL2 proteins regulate splicing of ultra-long exons by repressing cryptic splice sites, with RBMXL2 rescuing splicing defects in somatic cells.

This study uses spatial transcriptomics to analyze human embryonic arterial valves, identifying novel genes and pathways involved in valve development and highlighting limitations in current genomic databases.

The paper uses RNA sequencing to analyze transcriptomic changes in mouse neocortical tissue exposed to epileptiform activity, identifying gene expression alterations linked to epilepsy.

The paper introduces ssNet, a method to integrate probabilistic functional networks without an external Gold Standard, showing comparable performance using Saccharomyces cerevisiae data.

The paper identifies de novo mutations as a significant genetic cause of male infertility, finding several candidate genes and an enrichment of loss-of-function and missense mutations in intolerant genes.

The paper shows RBMX prevents non-productive splicing of ultra-long exons, maintaining genome stability by blocking aberrant splice sites in genes like ETAA1.

This study compares DNA methylation measurements from two Illumina arrays in cartilage and finds high overall correlation but poor correlation for CpG sites with low variance.

The paper shows androgen-regulated ESRP2 transcription controls alternative splicing in prostate cancer, with implications for metastasis.

Spaniel is an R package for analyzing and sharing spatial transcriptomics data, addressing challenges in existing tools.

The paper shows Pax9 is essential for cardiovascular development and interacts with Tbx1 in the pharyngeal endoderm to regulate 4th pharyngeal arch artery formation.