Ignacio Juan Keller Sarmiento

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 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.

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 paper identifies novel runs of homozygosity linked to Parkinson's disease risk and age at onset across diverse populations using genome-wide data.

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.

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.