Caroline Jonson

Sex differences in genetic liability to modifiable Alzheimer's disease risk factors

This paper investigates sex differences in genetic liability to modifiable Alzheimer's disease risk factors using polygenic risk scores and Mendelian randomization, finding limited and inconsistent sex-specific associations.

Cross-Ancestry Polygenic Risk Scores Enhance Alzheimer's Disease Risk Prediction in Multiethnic Cohorts

This paper evaluates cross-ancestry polygenic risk scores (PRS) for Alzheimer's disease across multi-ethnic populations, finding improved predictive accuracy in non-European groups.

Is SORL1 a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment

This study investigates the role of SORL1 genetic variants in AD, RD, and PD across diverse populations, identifying variants associated with risk but no significant cumulative effect.

Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations

This study identifies genetic variants associated with Alzheimer's disease and frontotemporal dementia in admixed Latin American populations using whole-genome sequencing and ancestry analysis.

Evaluating the causal effect of mitochondrial dysfunction on Alzheimer's and Parkinson's disease using Polygenic Risk Scores and Mendelian Randomization

This paper uses Polygenic Risk Scores and Mendelian Randomization to evaluate the causal effect of mitochondrial DNA copy number on Alzheimer's and Parkinson's disease risk.

The Role of Genomic-Informed Risk Assessments in Predicting Dementia Outcomes

This paper constructs a genomic-informed dementia risk score combining genetic and clinical factors and finds that most memory clinic patients have at least one high-risk indicator, with higher burden linked to increased dementia risk.

Random forest model improves annotation and discovery of variants of uncertain significance in Alzheimer's and other neurological disorders

MoVUS, a random forest model, classifies variants of uncertain significance in Alzheimer's and neurological disorders with high accuracy, prioritizing potentially pathogenic variants.

APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease

This study performs APOE-stratified GWAS to uncover genetic mechanisms underlying Alzheimer's disease risk and response to therapies.

Assessing the lack of diversity in genetics research across neurodegenerative diseases: a systematic review of the GWAS Catalog and literature

This paper reviews 123 neurodegenerative disease GWAS and finds 82% focus on European ancestry, with non-European studies identifying fewer risk loci.