Eden R. Martin

Genome wide association study meta-analysis of neuropathologic lesions of Alzheimer's disease and related dementias in a multi-site autopsy cohort

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.

From aging to Alzheimer's disease: concordant brain DNA methylation changes in late life

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.

A multi-ancestry polygenic risk score for Alzheimer disease is associated with cognitive decline, hippocampal atrophy and neuropathological hallmarks in diverse populations

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.

Sex-Stratified Transcriptomic Meta-Analysis of Alzheimer's Disease Reveal Brain Region and Sex Specific Dysregulation

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.

The Aging Epigenome: Integrative Analyses Reveal Functional Overlap with Alzheimer's Disease

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.

Sex-Specific Genetic Drivers of Memory, Executive Functioning, and Language Performance in Older Adults

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

Alzheimer's Disease Sequencing Project Release 4 Whole Genome Sequencing Dataset

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.

Local genetic covariance analysis with lipid traits identifies novel loci for early-onset Alzheimer's Disease

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

Evaluating the association of APOE genotype and cognitive resilience in SuperAgers

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.

Association of Common and Rare Variants with Alzheimer's Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer's Disease Sequencing Project

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.

An X Chromosome Transcriptome Wide Association Study Implicates ARMCX6 in Alzheimer's Disease

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.

Extended genome-wide association study employing the African Genome Resources Panel identifies novel susceptibility loci for Alzheimers Disease in individuals of African ancestry

A genome-wide association study in Peruvians suggests new risk loci for Alzheimer Disease

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.

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

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.

A Haptoglobin (HP) Structural Variant Alters the Effect of APOE Alleles on Alzheimer's Disease

The paper investigates how a haptoglobin structural variant modifies the effect of APOE alleles on Alzheimer's disease risk and age of onset in European-descent and African American populations.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

Data Descriptor: Human whole exome genotype data for Alzheimer's Disease

This paper presents a strategy to jointly analyze 20,504 whole-exome sequencing samples from nine studies, generating high-quality variant calls and addressing batch effects from different capture kits.

Manifestations of genetic risk for Alzheimer's Disease in the blood: a cross-sectional multi-omic analysis in healthy adults aged 18-90+

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.

An Association Test of the Spatial Distribution of Rare Missense Variants within Protein Structures Improves Statistical Power of Sequencing Studies

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

MethReg: estimating the regulatory potential of DNA methylation in gene transcription

MethReg identifies CpG sites with high regulatory potential by integrating DNA methylation, gene expression, and TF binding data to uncover TF-target gene associations in specific methylation contexts.

Genome-wide association studies of LRRK2 modifiers of Parkinson's disease

This study identifies genetic modifiers of LRRK2 mutations in Parkinson's disease, finding a significant variant in CORO1C and a polygenic risk score effect on penetrance.

coMethDMR: Accurate identification of co-methylated and differentially methylated regions in epigenome-wide association studies

coMethDMR identifies differentially methylated regions by first selecting co-methylated sub-regions and then testing their association with phenotypes using a mixed effects model.

Quality Control and Integration of Genotypes from Two Calling Pipelines for Whole Genome Sequence Data in the Alzheimer’s Disease Sequencing Project

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.

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

This study performs a large GWAS of Alzheimer's disease, identifies four new risk loci, and highlights pathways involving immunity, lipid metabolism, and APP/Aβ processing.