Kristy Bergmann

Brain cross-omics integration in Alzheimer's disease

The paper integrates multi-omics data from Alzheimer's disease cohorts to identify molecular profiles linked to disease progression and severity.

Circular RNA detection identifies circPSEN1 alterations in brain specific to Autosomal Dominant Alzheimer Disease

This study identifies increased circPSEN1 levels in ADAD brains compared to sporadic AD and controls, suggesting a potential role in neuroinflammatory processes.

MULTI-ANCESTRY GENETIC STUDY IN 5,876 PATIENTS IDENTIFIES AN ASSOCIATION BETWEEN EXCITOTOXIC GENES AND EARLY OUTCOMES AFTER ACUTE ISCHEMIC STROKE

This paper identifies seven genome-wide significant loci associated with early neurological instability after acute ischemic stroke, linking excitotoxic genes to poor outcomes.

Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer disease brains

This study identifies metabolomic and lipidomic signatures in Alzheimer's disease brains with different genetic risk factors and finds associations with disease subtypes and progression.

Genome-wide association, Mendelian Randomization and polygenic risk score studies converge on a role of beta-amyloid and APOE locus in Parkinson disease

The paper uses GWAS, PRS, and MR to show a genetic link between Parkinson's disease and CSF Aβ42 and APOE locus.

A single- nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain

This study uses single-nuclei RNA-seq to compare cell proportions and gene expression in Mendelian and sporadic AD brains, identifying reduced excitatory neurons in a Mendelian carrier and proposing best practices for analysis.

The TMEM106B rs1990621 protective variant is also associated with increased neuronal proportion

The paper identifies a genetic variant in TMEM106B associated with increased neuronal proportion in neurodegenerative and cognitive normal cohorts, suggesting a role in neuronal protection.