Mary B. Makarious

The paper screens variants in PD-related genes in Latin American EOPD and familial PD patients, identifying pathogenic variants and contributing to the genetic characterization of these conditions in the region.

The paper investigates the association of MAPT haplotypes H1 and H2 with Parkinson's disease risk across diverse populations using genetic data from multiple cohorts.

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.

CARDBiomedBench evaluates LLM performance in biomedical research using a benchmark focused on neurodegenerative diseases, revealing significant limitations in response quality and safety.

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

This study identifies genetic variants associated with Parkinson's disease in African and African admixed populations, highlighting differences from European and Asian populations.

MoVUS, a random forest model, classifies variants of uncertain significance in Alzheimer's and neurological disorders with high accuracy, prioritizing potentially pathogenic variants.

The paper develops epigenetic clocks using long-read DNA methylation data from diverse ancestries, showing improved aging predictions and identifying ancestry-specific aging pathways.

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

The paper investigates the biological impact of GBA1 mutations using multi-omics in isogenic iPSC lines, finding limited overlapping results across cell types and suggesting RNA-based quantitation may not be optimal for characterizing GCase mechanisms.

This study performs APOE-stratified GWAS to uncover genetic mechanisms underlying Alzheimer's disease risk and response to therapies.

The paper introduces the Neurodegenerative Disease Knowledge Portal (NDKP), an open-science platform aggregating genomic datasets for neurodegenerative diseases to enable collaborative analysis and discovery.

The paper uses long-read sequencing to identify structural variants and their impacts on gene expression and methylation in diverse human brain samples.

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 identifies a non-coding risk variant in GBA1 associated with Parkinson's disease in African ancestry populations, showing it disrupts splicing and reduces glucocerebrosidase activity.

GenoTools provides a Python package for genotype data QC, ancestry estimation, and GWAS, enabling scalable and reproducible analysis of large genetic datasets.

This study assesses genetic variation in Alzheimer's and Parkinson's diseases across ancestries, finding distinct population attributable risks for different loci.

The paper introduces the NeuroBooster Array, a genome-wide genotyping platform designed to study neurological disorders across diverse populations by capturing genetic variation and enabling imputation of disease-related variants.

This study evaluates federated learning models for multi-omics Parkinson's disease prediction, finding they perform comparably to centrally trained models with minor performance differences.

The paper investigates the association between the non-coding GBA1 rs3115534 variant and REM sleep behavior disorder in Nigerians with Parkinson's disease.

The paper identifies druggable target genes for neurodegenerative diseases using Mendelian Randomization and provides a web platform for exploring therapeutic targets.

This paper conducts a multi-ancestry genome-wide meta-analysis of Parkinson's disease, identifying 78 independent loci and 23 genes associated with PD risk.

Intronic GBA1 variant rs3115534-G, common in African and African admixed ancestry but rare elsewhere, raises Parkinson's disease risk (OR 1.58) and lowers onset age.

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

This study conducts a multi-ancestry GWAS meta-analysis of Alzheimer's disease, identifies two novel loci, and assesses polygenic risk score generalizability across populations.