Rebecca Sims

This study links obesity and type 2 diabetes to Alzheimer's disease through genetic and transcriptomic analyses, identifying shared pathways and potential drug targets.

This study uses human iPSC-derived microglia with high polygenic AD risk to identify functional impairments in immune response, mitochondrial function, and amyloid-beta uptake.

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

This study identifies rare coding variants in STAG1 and ZNF136 associated with schizophrenia using exome sequencing data from 28,898 cases and 103,041 controls.

This study shows that PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease-related markers in neurons.

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 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 examines how APOE ε4 modifies obesity-related atrophy in hippocampal subfields of cognitively healthy adults using neuroimaging data.

The paper identifies LACTB2 and PLIN2 as novel AD risk genes through monocyte-specific transcriptome-wide association study.

This paper identifies a protective PLCG2 variant in Alzheimer's disease, showing enhanced PLCγ2 activation and functional changes in immune cells.

This paper reports six novel genetic variants associated with Alzheimer's disease risk and demonstrates the utility of polygenic risk scores for risk stratification and age at onset prediction.

The paper uses a novel gene-based analysis approach to identify three novel genes associated with Alzheimer’s disease using genome-wide association data.

The paper investigates the causal relationship between white and gray matter damage in aging brains, finding that white matter damage causes gray matter decline, not the reverse.

The paper uses molecular dynamics simulations to show that Alzheimer's-associated TREM2 variants R47H and R62H cause structural changes, with R47H having a larger impact on the protein's binding loop.

The paper examines how central obesity affects myelin-sensitive MRI metrics in the fornix and finds that visceral fat and adipokine ratios are linked to reduced myelin and increased inflammation.

The paper investigates structural and functional brain differences in young adult APOE-ε4 carriers using multimodal imaging, finding reduced microstructural diffusion and increased activity in the posterior default mode network.

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.

This study identifies a haplotype lowering PU.1 expression in myeloid cells that delays Alzheimer’s disease onset by affecting gene expression and function.