Richard P Mayeux

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 identifies APOE-ϵ4-induced fibronectin accumulation at the blood-brain barrier as a key mediator of astrocyte-endothelial dysfunction in Alzheimer's disease, highlighting it as a potential therapeutic target.

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.

The paper identifies protective SH3RF3 variants that delay Alzheimer's onset by reducing microglial inflammation through JNK and NFkB pathway modulation in PSEN1G206A carriers.

This study identifies molecular programs distinguishing vascular, neurodegenerative, and mixed pathology in aging human brains using proteomic and transcriptomic data.

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

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

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

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 study identifies differentially expressed genes and pathways in Alzheimer's disease brain tissue from African American donors, highlighting potential targets for treatment.

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.

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.

This study identifies ABCA7-dependent neuropeptide Y signaling as a resilience mechanism critical for synaptic integrity and its disruption as a risk factor for Alzheimer's disease.

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

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.

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.

The paper derives cell-type-specific Alzheimer's disease polygenic risk scores and shows their associations with distinct pathological features in AD.

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.

The paper shows that Ngfr promotes neurogenesis and reduces amyloid pathology in AD mouse models by suppressing Lcn2/Slc22a17 signaling.

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.

The paper identifies two subtypes of aging brains with distinct Alzheimer's risk profiles and differential impacts of APOEε4.

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.

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.

The paper identifies three SNVs associated with delayed age at onset of cognitive impairment in Amish populations, with one replicated in an independent dataset and linked to the SHISA6 gene.

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

This paper identifies PPP2CB and C4B as key genes linked to Alzheimer's disease through a systems biology approach, showing their association with tau pathology and complement pathway activation.