Lindsay A. Farrer

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 study develops cEpiNets to connect Alzheimer's disease genetics to microglial inflammatory responses by integrating epigenomic data across contexts.

The paper presents an xQTL atlas of regulatory variation in the aging human brain, integrating multiple modalities and cell types across four studies, identifying more variant-molecular-trait associations by including TAD boundaries.

This paper conducts a genome-wide association study of Alzheimer's disease and dementia in a multi-ancestry military cohort, identifying 72 new dementia-associated loci through meta-analysis.

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 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 63 AMD risk loci across multiple ancestries, highlighting ancestry-dependent genetic heterogeneity and potential therapeutic targets.

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 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.

This study identifies genetic subtypes of Alzheimer's Disease using cell-based gene networks and polygenic risk scores, then repositions existing drugs for AD treatment.

This study identifies differentially expressed genes and allele-specific expression in macular tissues across AMD stages, highlighting the RPE/choroid's role in disease pathophysiology.

The paper identifies structural variations in whole-genome sequencing data from 16,905 ADSP subjects and finds associations with Alzheimer's disease and related endophenotypes.

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.

This study uses polygenic risk scores derived from brain transcriptomic profiles to explain clinical heterogeneity in 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.

This study performs a GWAS of dementia in African-ancestry individuals, identifying risk loci and highlighting differences in gene expression.

This study identifies APOE genotype-specific methylation patterns in blood and brain linked to Alzheimer's disease and estrogen response.

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.

The paper identifies circRNAs associated with Alzheimer's disease and related dementias through transcriptome analysis and validates their expression in neuronal precursor cells exposed to oligomeric tau.

The paper evaluates deletion calling accuracy using two pipelines on ADSP whole genome family data, finding Scalpel better for small deletions and Parliament for larger ones, with 78.1% of predicted deletions validated by Sanger sequencing.

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.

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.

The paper identifies a co-expression network involving C4A, C4B, and HSPA2 linked to APOE ε2's protective effect against Alzheimer's disease, primarily associated with tau pathology.

The paper identifies cell-type specific eQTLs associated with Alzheimer's disease in blood and brain tissue, finding shared genes and pathways relevant to AD risk.