Sofia Moura

Local genetic correlation analysis of Alzheimer's disease and stroke implicates PHLPP1 as a shared locus in individuals of African ancestry

Enhanced Hi-C Capture Analysis reveals complex regulatory architecture at the PICALM-EED locus for Alzheimer Disease

This study uses eHiCA to identify regulatory interactions at the PICALM-EED locus, showing distinct chromatin interactions for SNPs within a segregating haplotype.

Integrated genomic analysis and CRISPRi implicates EGFR in Alzheimer's disease risk

The paper identifies EGFR as a potential therapeutic target in Alzheimer's disease by linking a risk variant to increased EGFR expression in brain cell types through genomic analysis and CRISPRi validation.

African origin haplotype protective for Alzheimer's disease in APOEϵ4 carriers: exploring potential mechanisms

The paper identifies an African-origin haplotype that reduces AD risk in APOEε4 carriers by 75% and explores its molecular mechanisms through sequencing and methylation analysis.

Gene expression and chromatin accessibility comparison in iPSC-derived microglia in African, European, and Amerindian genomes in Alzheimer's patients and controls.

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.

Aβ toxicity rescued by protein retention in the ER

This study shows that retaining proteins in the ER can rescue Aβ toxicity in Drosophila and mouse models, suggesting a potential therapeutic strategy for Alzheimer's disease.

Activating mutations in FGFR3 are associated with clonal expansion events and high de novo rates in the male germline

The paper investigates FGFR3 mutations in the male germline, finding some mutations increase with age and lead to clonal expansions and higher mutation rates.

Discovery of an unusual high number of de novo mutations in sperm of older men using duplex sequencing

The paper uses duplex sequencing to analyze de novo mutations in sperm DNA from older and younger donors, finding higher mutation frequencies and recurrence in older donors.