Brian W. Kunkle

The paper systematically adjudicates genetic evidence for Alzheimer's disease and related dementias, identifying 111 high-confidence loci through a tiered framework applied to large-scale genome-wide studies.

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 identifies DNA methylation changes in aging and Alzheimer's disease using brain and blood data, finding concordant CpG sites associated with AD progression.

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

The paper develops an imputation panel integrating structural variants for Alzheimer's disease and related dementias, improving genotype imputation and identifying new genetic associations.

This study performs a sex-stratified transcriptomic meta-analysis of Alzheimer's disease to identify sex-specific and sex-dependent gene expression differences and potential drug targets.

This study identifies age-associated DNA methylation changes in blood and their overlap with Alzheimer's disease by analyzing two cohorts and finding shared genetic variants and CpGs associated with both aging and AD.

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 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 identifies genetic covariance between early-onset Alzheimer's disease and lipid traits, highlighting three novel loci and potential causative genes.

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.

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 models X chromosome gene expression in blood and brain cortex using elastic net and applies these models to sex-stratified AD GWAS data to identify ARMCX6 as a putative AD risk gene.

The paper uses BADGERS to identify risk factors and endophenotypes for late-onset Alzheimer's disease by analyzing biobank-wide data.

This study identifies blood-based biomarkers associated with Alzheimer's disease genetic risk variants in a large cohort of healthy adults, showing effects from early adulthood and sex-specific patterns.

POKEMON improves statistical power for detecting associations between rare missense variants and phenotypes by analyzing their spatial distribution on protein structures.

The paper develops a polygenic risk score integrating AD biomarkers and shows it better predicts cognitive decline than a clinical AD-based PRS.

The paper introduces a statistical framework for cross-tissue transcriptome-wide association analysis, improving gene-trait association detection and identifying novel genes related to late-onset Alzheimer's disease.

The paper describes the quality control and integration of genotype calls from two pipelines for whole genome sequencing data in the Alzheimer’s Disease Sequencing Project, resulting in a high-quality consensus dataset.