Minerva M. Carrasquillo

Integrative Epigenomic Landscape of Alzheimer's Disease Brains Reveals Oligodendrocyte Molecular Perturbations Associated with Tau

The paper identifies epigenetic changes in Alzheimer's disease brains linked to tau pathology, highlighting oligodendrocyte gene perturbations as a potential common mechanism across tauopathies.

Large- Scale Deep Proteomic Analysis in Alzheimer's Disease Brain Regions Across Race and Ethnicity

The paper performs large-scale proteomic analysis of Alzheimer's disease brain regions across different racial and ethnic groups, identifying AD-related protein changes and APOE4 concordance with genotype.

Bridging the Gap: Multi-Omics Profiling of Brain Tissue in Alzheimer's Disease and Older Controls in Multi-Ethnic Populations

This paper presents a multi-omics dataset from multi-ethnic Alzheimer's disease brain donors, including transcriptome, genome, and proteome data, to improve precision medicine for underrepresented populations.

Nomination of a novel plasma protein biomarker panel capable of classifying Alzheimer's disease dementia with high accuracy in an African American cohort

Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies LRRC4C, LHX5-AS1 and nominates ancestry-specific loci PTPRK, GRB14, and KIAA0825 as novel risk loci for Alzheimer disease: the Alzheimer Disease Genetics Consortium

This study identifies novel Alzheimer's disease risk loci by analyzing multi-ancestry GWAS data from diverse populations, highlighting the importance of including underrepresented groups in genetic research.

Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer's Disease related proteins

This study performs a genome-wide association study of brain biochemical phenotypes in Alzheimer's patients, identifying novel genetic loci and highlighting distinct genetic architectures for AD-related proteins.

Polygenic risk score analysis identifies deleterious protein-coding variants in novel immune pathway genes ATP8B4, FCGR1A, and LILRB1 that associate with Alzheimer's disease.

The paper identifies three novel immune pathway genes with deleterious variants associated with Alzheimer's disease using polygenic risk scores in whole exome sequence data.

Single Nuclei Transcriptome Reveals Perturbed Brain Vascular Molecules in Alzheimer's Disease

The paper uses single nucleus RNA sequencing to analyze brain vascular cells in Alzheimer's disease, identifying molecular changes and interactions between vascular and astrocytic cells at the blood-brain barrier.

Conserved Architecture of Brain Transcriptome Changes between Alzheimer's Disease and Progressive Supranuclear Palsy in Pathologically Affected and Unaffected Regions

Leveraging selective hippocampal vulnerability among Alzheimer's disease subtypes reveals a novel tau binding partner SERPINA5

The paper identifies SERPINA5 as a novel tau binding partner in Alzheimer's disease by analyzing hippocampal gene expression and neurofibrillary tangles.

Identification of novel Alzheimer's disease genes co-expressed with TREM2

The paper identifies four genes, including two novel ones, co-expressed with TREM2 in Alzheimer's disease using whole-exome data from ADSP.

Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions

This paper performs a large-scale eQTL meta-analysis across cerebral cortical and cerebellar brain regions, identifying distinct eQTL patterns and demonstrating improved power over existing studies.

Deciphering cellular transcriptional alterations in Alzheimer's disease brains

The paper identifies cell-intrinsic differentially expressed genes in Alzheimer's disease by analyzing bulk-RNAseq data and comparing results to single nucleus RNAseq.

Single Cell-type Integrative Network Modeling IdentifiedNovel Microglial-specific Targets for the Phagosome inAlzheimer's disease

The paper develops a computational systems biology approach to identify novel microglial-specific targets for the phagosome in Alzheimer's disease using integrated transcriptome and genotype data.

Systematic analysis of dark and camouflaged genes: disease-relevant genes hiding in plain sight

The paper identifies dark and camouflaged gene regions in the human genome, shows how long-read sequencing reduces their prevalence, and applies an algorithm to uncover disease-relevant variants in Alzheimer's Disease Sequencing Project data.