Margaret Ann Pericak‐Vance

The paper examines T-cell receptor sequence diversity and HLA alleles in Midwestern Amish participants to explore associations with Alzheimer's disease and cognitive status.

The paper estimates heritability and identifies genetic variants, including rare ones, associated with Alzheimer disease in the Amish population.

This study estimates the heritability of age-related macular degeneration in the Amish population using SNP and pedigree-based methods, finding substantial genetic contributions.

This paper performs a large-scale GWAS meta-analysis of neuropathologic lesions in Alzheimer's disease and related dementias, identifying both known and novel genetic associations.

This study evaluates two sequence-to-function models for predicting regulatory variant effects across ancestries using blood eQTL data, finding better performance for high-confidence variants in African American populations.

This paper investigates the impact of an ancestry-specific ABCA7 deletion on lipid homeostasis in Alzheimer's disease, showing disrupted lipid regulation in neurons.

This study uses eHiCA to identify regulatory interactions at the PICALM-EED locus, showing distinct chromatin interactions for SNPs within a segregating haplotype.

This study performs a multi-ancestry transcriptome-wide association study (TWAS) to identify shared and population-specific genetic effects in Alzheimer's disease using RNA-seq and genotype data from multiple cohorts.

This paper develops an APOE-independent polygenic risk score for Alzheimer's disease that shows associations with cognitive decline and neuropathological markers across diverse populations.

This study reviews heritability estimates for late-onset Alzheimer's disease, showing significant variation across studies and highlighting the importance of population and methodological context.

This paper identifies genome-wide pleiotropic loci linking blood pressure and cognitive performance measures using longitudinal data from multiple cohorts.

The paper identifies ancestry-specific chromatin architecture differences in Alzheimer's Disease using Hi-C and ATAC-seq data from African and European ancestry individuals.

The paper identifies sex-specific genetic loci associated with memory, executive functioning, and language performance in older adults through genome-wide meta-analyses.

The paper estimates heritability of Alzheimer-related plasma biomarkers in the Amish population, finding moderate genetic contributions to biomarker variances.

The paper provides a whole-genome sequencing dataset of 36,361 ADSP participants, including variant annotations, phenotypes, and a linkage disequilibrium panel for Alzheimer's Disease research.

This study examines the association between APOE genotype and cognitive resilience in SuperAgers, finding lower APOE-ε4 and higher APOE-ε2 frequencies in non-Hispanic White SuperAgers compared to controls and Alzheimer's cases.

This paper identifies 35 genome-wide significant ASD risk genes in admixed Latin American populations, showing consistency with European cohorts and supporting the universality of ASD biology.

The paper identifies an African-origin haplotype that reduces AD risk in APOEε4 carriers by 75% and explores its molecular mechanisms through sequencing and methylation analysis.

The paper investigates the association of common and rare variants with Alzheimer's Disease in 13,371 diverse individuals using whole-genome sequencing, identifying significant genetic loci and population-specific associations.

The paper evaluates methylation clocks in genetically diverse populations and finds they are less accurate in admixed cohorts and fail to consistently predict age acceleration in Alzheimer's disease cases.

This study identifies X-chromosome variants associated with age-related macular degeneration using genome-wide association analysis and pathway enrichment.

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.

The paper introduces a cost-efficient sequencing method called Blended Genome Exome (BGE) that combines low-coverage whole genome and high-coverage exome data, achieving >99% concordance with 30x WGS for variant imputation and rare coding variant calling.

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.

This study conducts a GWAS in Peruvians, identifying a novel AD risk locus in NFASC and replicating known loci, highlighting the importance of diverse populations in AD genetics.

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.