Rafael Lantigua

Genetic Regulation of the Metabolome Differs by Sex, Alzheimer's Disease Stage, and Plasma Biomarker Status

The paper identifies sex- and Alzheimer's disease stage-specific genetic regulators of plasma metabolites and their associations with biomarkers.

Biological Age and Age Acceleration Predict Alzheimer's Disease Plasma Biomarker Levels

The paper shows biological age and age acceleration in blood predict Alzheimer's disease plasma biomarker levels in a Hispanic cohort.

Missense and Loss of Function Variants at GWAS Loci in Familial Alzheimer's Disease

The paper examines rare missense and loss of function variants in GWAS loci for Alzheimer's disease across families, finding that many families lack identifiable variants beyond APOE-e4.

Rare genetic variation in Fibronectin 1 (FN1) protects against APOEe4 in Alzheimer's disease

The paper identifies rare FN1 variants that protect APOEε4 carriers from Alzheimer's disease by modulating extracellular matrix deposition and gliosis.

MU-BRAIN: MUltiethnic Brain Rna-seq for Alzheimer INitiative

The paper analyzes bulk RNA-seq data from diverse ethnic groups to identify differentially expressed genes and pathways in Alzheimer's Disease, highlighting cross-ethnic and ethnic-specific findings.

Multi-omics Characterization of Epigenetic and Genetic Risk of Alzheimer Disease in Autopsied Brains from two Ethnic Groups

The paper identifies six genetic loci associated with Alzheimer's disease in Hispanics, showing both genetic and epigenetic risks, with some downstream effects on mRNA expression being ethnicity-specific.

Rare variants imputation in admixed populations: Comparison across reference panels and bioinformatics tools.

This study compares imputation accuracy for rare and ultra-rare variants in an admixed Caribbean Hispanic population using different reference panels and tools, finding that larger reference panels improve imputation quality.

Whole Exome Sequencing in 20,197 Persons for Rare Variants in Alzheimer Disease

The paper uses whole exome sequencing in 20,197 individuals to identify rare variants associated with Alzheimer's disease, finding significant associations with SORL1 loss-of-function variants.