Terence John O'Brien

This study examines sex differences in structural brain alterations in common epilepsies using neuroimaging data from a large international cohort, finding some regional differences but no significant sex-by-diagnosis interactions.

This paper introduces KIML, a machine learning framework that integrates experimental data with biological knowledge to improve disease gene prioritisation, showing better performance than existing methods.

This study identifies somatic Ras-MAPK pathway variants in hippocampal tissue from patients with drug-resistant epilepsy, showing their association with clonal competition and worse surgical outcomes.

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

The paper benchmarks plasma proteomic workflows across species and methods, showing workflow choice significantly impacts detected proteins and depth.

This study identifies glycophagy dysregulation as a mechanism of diabetic heart disease and shows that Gabarapl1 gene therapy improves cardiac function in diabetic mice and human cardiac organoids.

This paper predicts drug response in epilepsy using multi-task gradient-boosted trees, identifying key genomic and clinical features that influence treatment outcomes.

The paper examines associations between epilepsy-related polygenic risk scores and brain morphology in children, finding PRS-related cortical thinning linked to structural patterns in TLE-HS patients.

This study investigates the long-term effects of Klebsiella pneumoniae infection following traumatic brain injury in mice, finding no significant impact on neurobehavioral outcomes or seizure development.

The paper uses factor analysis on multimodal biomarkers to identify latent constructs of brain health, finding five distinct constructs associated with age and cognitive function.

This study examines relationships between MRI-based measures of neurovascular integrity and fluid transport in older adults, finding age-related changes and stable inter-relationships among these metrics.

This study finds plasma pTau-217 correlates with cognition and brain atrophy in cognitively healthy older adults and strongly correlates with its CSF counterpart.

This study shows that LPS treatment after TBI causes acute neuroinflammation and gut microbiome changes but does not affect long-term outcomes.

The paper compares four automated MRI segmentation methods for epilepsy resection cavities to manual segmentation, finding SPM-based methods outperform deep learning approaches in most cases.

This study examines age-related changes in grey and white matter in TLE patients across the adult lifespan, finding accelerated aging effects after age 55.

This study identifies subregional cerebellar atrophy patterns in epilepsy syndromes using MRI data from 1,602 patients and 1,022 controls, finding significant volume loss in posterior lobe regions.

This study shows that rapamycin reduces VPA-induced teratogenic effects by suppressing AP-1-mediated senescence in human and zebrafish models.

This study shows sodium selenate reduces seizures, cognitive dysfunction, and sensorimotor deficits in a rat model of chronic drug-resistant temporal lobe epilepsy.

The paper demonstrates a data harmonization process for memory testing across 53 studies, reducing inter-site variance while preserving covariate effects.

This study identifies divergent patterns of atypical cortical asymmetry and regional atrophy in temporal lobe epilepsy using MRI data from a large multi-site cohort.

This study links structural network changes in epilepsy syndromes to risk gene expression patterns using ENIGMA data.

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

The paper identifies microglial activation as a factor contributing to cortical thinning in epilepsy by integrating neuroimaging and gene expression data.

This study identifies Gabarapl1 as a regulator of glycophagy in diabetic cardiomyopathy, showing its role in preventing glycogen accumulation and diastolic dysfunction.

This study identifies white matter microstructural differences across epilepsy syndromes using diffusion MRI data from a large multicenter cohort.

This study identifies network associations with atrophy patterns in epilepsy using neuroimaging and connectome analysis across 1,021 patients and 1,564 controls.

The paper evaluates abbreviated versions of the SCL-90-R for psychopathology assessment in seizure disorder patients, finding high validity for depression and anxiety but poor performance for psychosis and obsessive-compulsive symptoms.

This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.

The paper examines how CSF biomarkers of Alzheimer's disease pathologies relate to structural and functional brain changes in patients with dementia of the Alzheimer’s type.