Philip L. De Jager

This study uses multimodal transcriptomic data to enhance Alzheimer's disease risk gene discovery, identifying 161 risk genes with proteomic support and an interconnected network of hub genes.

This study integrates multi-omics data from DLPFC with GWAS summary data to identify PD risk genes, finding significant overlaps between bulk and cell-type-aware TWAS and PWAS results.

The paper develops a post-processing workflow combining Xenium spatial technology with 4i imaging to enable multi-omic mapping of post-mortem human brain tissue, focusing on pathological microenvironments.

This paper identifies APOE-ϵ4-induced fibronectin accumulation at the blood-brain barrier as a key mediator of astrocyte-endothelial dysfunction in Alzheimer's disease, highlighting it as a potential therapeutic target.

This study identifies 36 genetic loci associated with recurrent UTIs and highlights PSCA as a key gene involved in urinary epithelial defense against bacteria.

The paper analyzes microglial communication in Alzheimer's disease using single-nucleus RNA sequencing to identify altered signaling pathways and cell interactions associated with disease pathology.

The paper identifies regulators of microglial activation states using CRISPR screens and single-cell transcriptomics, revealing functional roles of ZNF532, PRDM1, and DNMT1 in disease-associated microglial states.

This study shows how non-coding variants in CD33 affect Alzheimer's risk by altering CD33M dimerization and interactions with clusterin and Aβ, impacting microglial function.

The paper identifies two genes, ADRA1B and LY6E-DT, downregulated in excitatory neurons associated with neuroticism and found to partially mediate the risk of Alzheimer's disease.

The paper presents an xQTL atlas of regulatory variation in the aging human brain, integrating multiple modalities and cell types across four studies, identifying more variant-molecular-trait associations by including TAD boundaries.

This paper introduces FGMB, a multi-context regulome-wide association atlas, and applies it to Alzheimer's disease to identify 327 regulatory associations and resolve 86 gene-molecular-trait pairs.

The paper identifies oligodendrocyte subtype changes in Parkinson's disease across species, linking them to disease progression and clinical outcomes.

This study evaluates six potential serum biomarkers for multiple sclerosis in at-risk individuals and finds most are not robust predictors, though SPP1 shows a significant inverse correlation with genetic risk.

This study integrates multi-omics data from aged human brains to identify cross-system biological factors and molecular subtypes associated with Alzheimer's disease heterogeneity.

This paper introduces a single-cell proteomics pipeline for analyzing human microglia, identifying 1039 proteins per cell and revealing mitochondrial protein variation across subtypes.

This study investigates the role of the HEXIM1/P-TEFb complex in regulating RNA polymerase II pause release and immediate early gene induction in neurons during depolarization.

The paper identifies EGFR as a potential therapeutic target in Alzheimer's disease by linking a risk variant to increased EGFR expression in brain cell types through genomic analysis and CRISPRi validation.

This study uses phosphoproteomics to analyze signaling dynamics in neuronal cells stimulated with insulin and IGFs, identifying key phosphorylation events and pathways involved in actin cytoskeletal regulation.

The paper develops scEEMS models to predict cell-type-specific eQTLs, enhancing discovery of AD risk variants by linking them to cell-type-specific genes.

This study identifies novel post-translational modifications in Alzheimer's disease brains linked to neuropathology and cognition using mass spectrometry data from 101 participants.

This study identifies sex-specific gene expression associations with Alzheimer's disease neuropathology and cognitive decline using single-nucleus RNA sequencing from human brain tissue.

mfSuSiE improves fine-mapping of chromatin accessibility QTLs across multiple cell types and integrates multi-omic data in aging human brain samples.

This paper links molecular mechanisms to Alzheimer's disease and aging by integrating neuroimaging endophenotypes with molecular quantitative trait loci.

The paper identifies gene associations with plasma pTau217 in preclinical Alzheimer's disease, showing modulation by APOEε4, Aβ-PET, and sex, with X-linked genes playing a role.

The paper identifies cell type-specific gene modules associated with Alzheimer's Disease traits using snRNASeq data from human brain tissues.

This study shows that INPP5D/SHIP1 regulates endo-lysosomal function and cargo-selective phagocytosis in human microglia, linking its dysfunction to Alzheimer's disease pathology.

The paper examines sex-specific gene expression associations with Alzheimer's disease neuropathology and cognitive performance using bulk transcriptomic data from 767 individuals.

This study examines cytokine gene expression in human brain tissue from elderly individuals with and without Alzheimer's disease to identify biomarkers and understand disease mechanisms.

Spacelink integrates spatial transcriptomics with genetics to identify spatially variable genes linked to disease, showing improved detection power and disease informativeness.