Michael L. Cuccaro

The paper identifies genetic variants associated with AD-related plasma biomarkers in the Amish cohort using GWAS and linkage analysis.

The paper estimates heritability and identifies genetic variants, including rare ones, associated with Alzheimer disease in the Amish population.

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 uses machine learning to predict autopsy-confirmed neuropathology from clinical, neuroimaging, and CSF biomarkers, finding that different modalities best predict specific pathologies.

This paper investigates the impact of an ancestry-specific ABCA7 deletion on lipid homeostasis in Alzheimer's disease, showing disrupted lipid regulation in neurons.

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

This study conducts the first genome-wide association analysis of trichotillomania and finds no significant common variants but detects higher polygenic risk and copy number variants associated with neuropsychiatric disorders.

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 estimates heritability of Alzheimer-related plasma biomarkers in the Amish population, finding moderate genetic contributions to biomarker variances.

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 paper identifies 35 genome-wide significant ASD risk genes in admixed Latin American populations, showing consistency with European cohorts and supporting the universality of ASD biology.

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.

The paper evaluates methylation clocks in genetically diverse populations and finds they are less accurate in admixed cohorts and fail to consistently predict age acceleration in Alzheimer's disease cases.

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.

This study identifies novel Alzheimer's disease risk loci by analyzing multi-ancestry GWAS data from diverse populations, highlighting the importance of including underrepresented groups in genetic research.

This study finds that higher educational attainment in African ancestry individuals with AD pathology and APOE e4 non-carriers is associated with greater functional resilience.

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.

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.

This study examines the association between ApoE ε4 allele and Alzheimer's disease in a Peruvian population with high Amerindian ancestry, finding a stronger risk effect compared to non-Hispanic White populations.

The paper performs linkage analysis in Caribbean Hispanic families to identify an Alzheimer's disease locus on chromosome 9, finding a region with multiple candidate genes.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.