Yi Wen Tay

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations

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.

Multi-ancestry analysis of POLG variants in Parkinson's disease

This study analyzes POLG variants in Parkinson's disease across multiple ancestries and finds rare pathogenic variants in some cases, suggesting potential contributions to PD in isolated instances.

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.

CNV-Finder: Streamlining Copy Number Variation Discovery

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

Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease

The paper assesses the frequency of dystonia-linked pathogenic variants in Parkinson's disease patients and finds they are present in 0.57% of cases, with GCH1 being the most common gene affected.

The LRRK2 p.A419V variant associates with risk of Parkinson disease in the East Asian population and an evaluation on age of onset

The paper identifies the LRRK2 p.A419V variant as a significant risk factor for Parkinson's disease in East Asian populations and explores its association with age of onset.

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing

This study uses exome sequencing to identify genetic variants in dystonia patients, finding 137 likely pathogenic variants in 51 genes and expanding the known phenotypic spectrum of dystonia-related genes.

Validation of a Mitochondrial Polygenic Score for Parkinson's Disease

The paper validates a mitochondrial polygenic score for Parkinson's disease across diverse populations, finding strong associations in Europeans and Ashkenazi Jews but not in other ancestries.

Exome sequencing in Asian populations identifies rare deficient SMPD1 alleles that increase risk of Parkinson's disease

The paper identifies rare SMPD1 variants in Asian populations that increase Parkinson's disease risk through exome sequencing and functional assays.