Publications

Male proband with intractable seizures and a de novo start codon disrupting variant in GLUL.

Carbonell E, Stenton SL, Ganesh VS, et al. Male proband with intractable seizures and a de novo start codon disrupting variant in GLUL. HGG advances. 2025:100419. doi:10.1016/j.xhgg.2025.100419

Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.

Belle K, Kreymerman A, Young JL, et al. Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction. Molecular genetics and metabolism. 2025;144(3):109049. doi:10.1016/j.ymgme.2025.109049

For brain health, one drink a day is not better than none.

Singh SD, Senff JR, Anderson CD, Rosand J. For brain health, one drink a day is not better than none. The Lancet. Neurology. 2025;24(3):191-192. doi:10.1016/S1474-4422(25)00028-6

Mosaic loss of chromosome Y characterises late-onset rheumatoid arthritis and contrasting associations of polygenic risk score based on age at onset.

Uchiyama S, Ishikawa Y, Ikari K, et al. Mosaic loss of chromosome Y characterises late-onset rheumatoid arthritis and contrasting associations of polygenic risk score based on age at onset. Annals of the rheumatic diseases. 2025. doi:10.1016/j.ard.2025.01.034

Temporal changes in blood biomarkers associated with sleep apnoea severity: a retrospective cohort study in Finland.

Hellen M, Ruoranen T, Toppila-Salmi S, et al. Temporal changes in blood biomarkers associated with sleep apnoea severity: a retrospective cohort study in Finland. BMJ open. 2025;15(2):e090895. doi:10.1136/bmjopen-2024-090895

YY1 mutations disrupt corticogenesis through a cell type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs.

Pereira MF, Finazzi V, Rizzuti L, et al. YY1 mutations disrupt corticogenesis through a cell type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programs. Molecular psychiatry. 2025. doi:10.1038/s41380-025-02929-x

A deep learning digital biomarker to detect hypertension and stratify cardiovascular risk from the electrocardiogram.

Al-Alusi MA, Friedman SF, Kany S, et al. A deep learning digital biomarker to detect hypertension and stratify cardiovascular risk from the electrocardiogram. NPJ digital medicine. 2025;8(1):120. doi:10.1038/s41746-025-01491-8

An organism-level quantitative flux model of energy metabolism in mice.

Yuan B, Doxsey W, Tok Özlem, et al. An organism-level quantitative flux model of energy metabolism in mice. Cell metabolism. 2025. doi:10.1016/j.cmet.2025.01.008

CTCF/RAD21 organize the ground state of chromatin-nuclear speckle association.

Yu R, Roseman S, Siegenfeld AP, et al. CTCF/RAD21 organize the ground state of chromatin-nuclear speckle association. Nature structural & molecular biology. 2025. doi:10.1038/s41594-024-01465-6

Pancreatic injury induces β-cell regeneration in axolotl.

Powell CJ, Singer HD, Juarez AR, et al. Pancreatic injury induces β-cell regeneration in axolotl. bioRxiv : the preprint server for biology. 2025. doi:10.1101/2025.01.23.634564

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Publications

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