María Teresa Periñán

The paper identifies novel cross-trait associations using polytranscriptomic scores in Parkinson's disease and improves prediction models with multi-PTS integration.

This study identifies NDK as a key gene at the intersection of guanosine nucleotide metabolism and bioenergetics, showing its protective role in Parkinson's disease and its association with genetic risk.

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 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.

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

The paper investigates the association between DNAJC13 variants and Parkinson's disease across diverse ancestries but finds no significant association.

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 study investigates the association between COMT genetic variants and Parkinson's disease risk across diverse ancestries but finds no significant enrichment of COMT risk alleles in PD patients after multiple testing correction.

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.

This study compares polygenic risk scores for Parkinson's disease across seven ancestries, finding varying predictive accuracy and highlighting the need for ancestry-specific models.

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

The paper describes a virtual hackathon event that brought together early career scientists to develop tools for Parkinson's disease research using open science principles.

This study uses Mendelian randomization to show that genetic risk for mosaic loss of chromosome Y (mLOY) increases AD risk in males, but not females, suggesting mLOY directly contributes to AD pathogenesis.

The paper presents a GWAS locus browser for Parkinson's disease that helps prioritize genes associated with risk variants from multiple GWAS studies.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

This study conducts a GWAS of Parkinson disease in Spain, identifies a novel population-specific signal at PARK2 associated with age-at-onset, and highlights genetic substructure for future fine-mapping.

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.