Thomas S. Jacques

Pheno-MYCN maps the morphological footprint of MYCN amplification in paediatric neuroblastoma

Pheno-MYCN links slide-level MYCN prediction to interpretable morphological sub-populations in neuroblastoma, revealing a continuous gradient of MYCN-associated features.

Cancer-independent, second somatic NF1 mutation of normal tissues in neurofibromatosis type 1

The paper identifies second somatic NF1 mutations in normal tissues of neurofibromatosis type 1 patients through whole genome and exome sequencing, showing positive selection of truncating mutations in these tissues.

Targeted inhibition of Bcl-xL following radiation reduces tumourigenesis in preclinical models of H3K27M-altered diffuse midline glioma

This study shows that combining radiation with Bcl-xL inhibition reduces tumor growth in preclinical models of H3K27M-altered diffuse midline glioma.

Translating metagenomics into clinical practice of complex paediatric neurological presentations

This study demonstrates that clinical metagenomics improves diagnostic outcomes for undiagnosed complex paediatric neurological cases, particularly in immunocompromised patients.

Homeostatic and tumourigenic activity of SOX2+ pituitary stem cells is controlled by the LATS/YAP/TAZ cascade

This study shows that the LATS/YAP/TAZ pathway regulates SOX2+ pituitary stem cells, controlling their homeostasis and tumourigenic potential during development and in adulthood.

Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours

The paper develops a targeted sequencing panel for paediatric solid tumours and validates its sensitivity and specificity across various sample types.

Mitochondrial impairment and rescue in riboflavin responsive neuropathy

This study identifies RFVT gene mutations in BVVLS, shows mitochondrial dysfunction, and demonstrates therapeutic potential with riboflavin esters.