Pieter Jelle Visser

Quantitative trait loci mapping of circulating metabolites in cerebrospinal fluid to uncover biological mechanisms involved in brain-related phenotypes

This study maps quantitative trait loci for CSF metabolites and identifies associations with brain traits, revealing potential neurobiological pathways.

Blood-based multivariate methylation risk score for cognitive impairment and dementia

The paper develops a multivariate methylation risk score using blood DNA methylation data to predict dementia risk and cognitive impairment in Alzheimer's and Parkinson's disease cohorts.

A Novel Susceptibility Locus in NFASC Highlights Oligodendrocytes and Myelination in Progressive Supranuclear Palsy Pathology

The paper performs a GWAS on PSP in the Iberian population, replicates known risk variants, and identifies a novel locus in NFASC/CNTN2 associated with oligodendrocyte and myelination processes.

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

Genome-wide association study of Alzheimer's disease brain imaging biomarkers and neuropsychological phenotypes in the EMIF-AD Multimodal Biomarker Discovery dataset

This study performs GWAS on quantitative AD biomarkers and cognitive traits, identifying new loci associated with memory performance and cognitive decline.

TMEM106B and CPOX are genetic determinants of cerebrospinal fluid Alzheimer's disease biomarker levels

The paper conducts GWAS on CSF Alzheimer's disease biomarkers, identifying genetic associations with NF-L, YKL-40, and Ng levels.

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.

The Dementias Platform UK (DPUK) Data Portal

The DPUK Data Portal provides secure access to cohort data for dementia research, supporting multi-modal analyses and collaborations across multiple institutions.

The genomic architecture of blood metabolites based on a decade of genome-wide analyses

This study estimates heritability and genetic contributions to metabolite levels using genome-wide data and twin-family cohorts, revealing class-specific genetic influences.

Cellular phenotyping of hippocampal progenitors exposed to patient serum predicts conversion to Alzheimer’s Disease

This study shows that serum from MCI patients predicts AD conversion up to 3.5 years before diagnosis by altering hippocampal progenitor cell behavior.

Does genetic risk help to predict amyloid burden in a non-demented population? A Bayesian approach.

This study uses Bayesian logistic regression to assess if genetic risk factors predict amyloid burden in non-demented individuals, finding that known factors like age and APOE are more predictive than polygenic risk scores.