Ingmar Blümcke

This study links neuronal cell loss and gliosis in hippocampal sclerosis to tissue stiffness using mechanical testing and deep learning analysis of histopathology.

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.

This study uses snRNA-seq and a new method called GO-TEN to analyze mosaic genetic variants in focal cortical dysplasia, revealing cell-autonomous and non-cell-autonomous transcriptional changes associated with epilepsy.

This study uses single-nucleus multiomics to map cell types and molecular changes in MOGHE lesions, identifying disease-specific oligodendrocytes and heterotopic neurons with altered gene expression.

The paper identifies small leucine-rich proteoglycans (SLRPs) as inhibitors of CNS regeneration by altering the structural and mechanical properties of the injury ECM.

This paper develops a physics-based model to explore how the outer subventricular zone influences cortical folding by integrating cellular processes with organ-scale mechanics.

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

This study identifies somatic and germline genetic variants in 474 epileptogenic brain lesions, revealing associations with specific epilepsy subtypes and informing clinical genetic screening.

The paper identifies a chromosomal duplication of chromosome 1q in a subset of polymicrogyria patients, associated with specific clinical features and distinct DNA methylation patterns.

The paper reassesses the pathogenicity of gene variants associated with focal human epilepsies using evolutionary constraint, ACMG guidelines, and bioinformatic tools.