Ai Huey Tan

A coding CAG repeat expansion in EP400 causes Spinocerebellar Ataxia

This study identifies a CAG repeat expansion in EP400 as a novel cause of spinocerebellar ataxia in Serbian patients, with an inverse correlation between repeat number and age at onset.

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.

Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort

This study identifies pathogenic and intermediate repeat expansions in Parkinson's disease and parkinsonism across 11 ancestries, highlighting ATXN2's role in PD risk and ancestry-specific patterns.

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.

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.

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance

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.

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.

Global Perspectives on Returning Genetic Research Results in Parkinson's Disease

This paper surveys global perspectives on returning genetic research results in Parkinson's disease, finding disparities in access, training, and policy practices across countries.

Understanding monogenic Parkinson's disease at a global scale

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.

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.

Global Parkinson's Genetics Program (GP2) Monogenic Network Protocol: Elucidating causative gene variants in hereditary Parkinson's disease

The paper establishes a protocol for whole-genome sequencing to identify genetic causes of Parkinson's disease, focusing on monogenic variants and their clinical implications.