Lara Mariah Lange

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.

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.

The paper introduces a genome browser for Parkinson's disease genomic data, integrating WGS and CES samples with variant annotations and ancestry stratification.

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

This study identifies genetic associations between lysosomal genes and Parkinson's disease risk across diverse populations using GWAS and whole genome sequencing data.

The paper identifies FGF14 GAA repeat expansions in Parkinson's disease using long-read sequencing and finds they occur in both patients and controls.

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.

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 prioritizes Parkinson's disease risk genes in GWAS loci using a polygenic priority score, identifying 46 genes with potential for therapeutic development.

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.

The paper develops an improved polygenic score for idiopathic Parkinson's disease, showing higher discriminative performance and explaining variable penetrance in genetic forms of the disease.

The paper reports genetic findings from a UK-wide study of early-onset and familial Parkinson's disease, identifying pathogenic variants in known PD genes and highlighting the need for further monogenic causes.

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 outlines the protocol for integrating genetic and clinical data from a global cohort of over 150,000 participants to study the genetic causes of sporadic 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.