Jonathan Mitchell

This study identifies a dietary lipid axis driven by linoleic acid and FADS2 that suppresses antitumor immunity in liver cancer, offering a therapeutic target for immunotherapy resistance.

This study shows GABA receptor B signaling promotes GBM growth in females through immune mechanisms, with sex-specific effects on survival and treatment outcomes.

This study identifies 26,963 individuals with clonal haematopoiesis without known genetic drivers (CH-UD) and finds strong genetic and phenotypic links to other forms of clonal haematopoiesis, implicating TCL1A and epigenetic changes.

This study identifies ADAR as a key mediator of immune evasion in H3K27M+ pediatric gliomas and shows that ATRA can induce ADAR degradation, enhancing antiviral responses and tumor immunogenicity.

This study shows that DPP-4 inhibition improves CD8+ T cell metabolism and anti-tumor activity in preclinical and clinical settings.

This study compares clonal haematopoiesis (CH) between admixed Americans and Europeans, finding ancestry-specific genetic factors and lower CH prevalence in admixed populations.

The paper develops a tool to assess tumour contamination in normal samples using whole-genome sequencing data, finding contamination in various cancer types and highlighting risks to variant calling.

The paper uses machine learning to identify undiagnosed cases in UK Biobank data, improving gene-disease associations and discovering novel relationships.

The paper identifies 53 rare variants and 22 genes associated with telomere length using UK Biobank whole-genome sequences, highlighting their role in clonal haematopoiesis and disease.

This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.

The paper identifies novel Mendelian genes by analyzing mouse embryo lethality and linking them to human disease phenotypes and genetic variants.

The paper identifies rare protein-coding variants influencing plasma protein levels in 50,829 UK Biobank participants using exome-wide association studies.

The paper introduces OncMTR, a metric identifying genic regions intolerant to germline variation but enriched for cancer-driving mutations, and shows it improves genetic signal detection for hematologic malignancies.

MSCquartets 1.0 provides R tools for species tree and network inference under the multispecies coalescent model using quartet methods.