Soraya Bardien

The paper identifies the GCH1 p.Ser80Asn variant as a rare, East Asian-enriched risk factor for Parkinson's disease with increased odds ratio and specific clinical features.

This study conducts a genome-wide association study of copy number variations in Parkinson's disease, identifying a significant PRKN deletion but limited replication in an independent dataset.

CNV-Finder uses deep learning to detect copy number variations from array data, improving accuracy and reducing manual workload for downstream analyses.

This study performs genetic screening of South African Parkinson's disease patients, identifying rare variants and CNVs in known PD genes, highlighting their contribution to disease in an underrepresented population.

This study conducts the first XWAS in an African cohort, identifying X chromosome variants associated with Parkinson's disease susceptibility in males and females.

This study identifies genetic variants associated with Parkinson's disease in African and African admixed populations, highlighting differences from European and Asian populations.

The paper evaluates polygenic risk scores for Parkinson's disease in a South African cohort, finding modest predictive performance and no ancestry-specific risk variants.

This study identifies Parkinson's disease susceptibility variants in a South African cohort using GWAS and local ancestry analysis, highlighting ancestry-specific genetic risk factors.

This paper analyzes genetic variation in Parkinson's disease across multiple ancestries, revealing ancestry-specific patterns and highlighting the importance of diverse populations in genetic research.

This paper combines two global monogenic Parkinson's disease initiatives to create a comprehensive cohort and infrastructure for studying multi-ancestry genetic factors and disease expression.

This paper reviews the lack of diversity in Parkinson's disease genetics research, highlighting underrepresentation of non-European populations and the need for more inclusive studies.