Fabian Kilpert

Advancing molecular, phenotypic and mechanistic insights of FGF14 pathogenic expansions (SCA27B)

This study identifies the complete sequences of pathogenic and non-pathogenic FGF14 repeat expansions in patients with cerebellar ataxia, revealing a lower pathogenic threshold and providing mechanistic insights into disease causation.

Genome-wide association study of Alzheimer’s disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset

The paper conducts a genome-wide association study (GWAS) on Alzheimer’s disease CSF biomarkers in the EMIF-AD dataset, identifying novel genetic signals and confirming existing associations.

Genetic risk for Alzheimer`s disease predicts hippocampal volume through the lifespan

This study shows genetic risk for Alzheimer's disease affects hippocampal volume throughout life in a healthy population.

Longitudinal increase in sleep problems is related to amyloid deposition in cortical regions with high HOMER1 gene expression

The paper examines the relationship between sleep problems and amyloid deposition in cortical regions with high HOMER1 expression in older adults, finding a stronger link in younger participants and regions with high HOMER1 expression.

Alzheimer’s disease risk SNPs show no strong effect on miRNA expression in human lymphoblastoid cell lines

This study investigates the effect of Alzheimer's disease risk SNPs on miRNA expression in human lymphoblastoid cell lines and finds limited evidence of miRNA eQTL effects, with two notable exceptions.

snakePipes enable flexible, scalable and integrative epigenomic analysis

snakePipes provides a flexible, scalable pipeline for integrative epigenomic analysis across multiple assays, simplifying reproducibility and extending existing studies.