All Outputs (3)

ROBIN: A unified nanopore-based assay integrating intraoperative methylome classification and next-day comprehensive profiling for ultra-rapid tumor diagnosis (2025)
Journal Article
Deacon, S., Cahyani, I., Holmes, N., Fox, G., Munro, R., Wibowo, S., Murray, T., Mason, H., Housley, M., Martin, D., Sharif, A., Patel, A., Goldspring, R., Brandner, S., Sahm, F., Smith, S., Paine, S., & Loose, M. (2025). ROBIN: A unified nanopore-based assay integrating intraoperative methylome classification and next-day comprehensive profiling for ultra-rapid tumor diagnosis. Neuro-Oncology, https://doi.org/10.1093/neuonc/noaf103

Background
Advances in our technological capacity to interrogate CNS tumor biology have led to the ever increasing use of genomic sequencing in diagnostic decision making. Presently, CNS tumors are classified based on their epigenetic signatures, le... Read More about ROBIN: A unified nanopore-based assay integrating intraoperative methylome classification and next-day comprehensive profiling for ultra-rapid tumor diagnosis.

Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors (2025)
Journal Article
Patel, A., Göbel, K., Ille, S., Hinz, F., Schoebe, N., Bogumil, H., Meyer, J., Brehm, M., Kardo, H., Schrimpf, D., Lomakin, A., Ritter, M., Göller, P., Kerbs, P., Pfeifer, L., Hamelmann, S., Blume, C., Ippen, F. M., Berghaus, N., Euskirchen, P., …Sahm, F. (2025). Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors. Nature Medicine, https://doi.org/10.1038/s41591-025-03562-5

Molecular data integration plays a central role in central nervous system (CNS) tumor diagnostics but currently used assays pose limitations due to technical complexity, equipment and reagent costs, as well as lengthy turnaround times. We previously... Read More about Prospective, multicenter validation of a platform for rapid molecular profiling of central nervous system tumors.

Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment (2023)
Journal Article
Deacon, S., Dalleywater, W., Peat, C., Paine, S. M., & Dineen, R. A. (2024). Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment. Cerebellum, 23(2), 502-511. https://doi.org/10.1007/s12311-023-01560-2

Cerebellar neurodegeneration is a classical feature of ataxia telangiectasia (A-T), an autosomal recessive condition caused by loss-of-function mutation of the ATM gene, a gene with multiple regulatory functions. The increased vulnerability of cerebe... Read More about Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment.