Sara Bandrés‐Ciga

This study conducts ancestry-specific and multi-ancestry GWAS of restless legs syndrome, identifying shared and ancestry-specific risk loci across African, Latin American, and European populations.

The paper characterizes the genetic landscape of Parkinson's disease in a Chilean cohort, identifying common pathogenic variants in LRRK2 and GBA1.

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.

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.

This study identifies genetic variants associated with Alzheimer's disease and frontotemporal dementia in admixed Latin American populations using whole-genome sequencing and ancestry analysis.

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.

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.

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 identifies Parkinson's disease susceptibility variants in a South African cohort using GWAS and local ancestry analysis, highlighting ancestry-specific genetic risk factors.

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.

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

The paper identifies genes regulating alpha-synuclein homeostasis and shows their differential expression correlates with increased rare risk variant burden in Parkinson's disease.

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.

This study performs an X chromosome-wide association study (XWAS) in ASD, identifying 59 variants associated with ASD, including novel candidate genes like FGF13.

This study identifies genetic correlations between hyposmia and Parkinson's disease, finding a strong causal link from PD to hyposmia but weaker evidence for the reverse.

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.

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 paper reviews 123 neurodegenerative disease GWAS and finds 82% focus on European ancestry, with non-European studies identifying fewer risk loci.

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 examines MAPT haplotype frequencies in Nigerian Africans and finds no association between the H1 haplotype and Parkinson's disease risk or age at onset.

This study clusters patients with neurodegenerative diseases based on genetic risk variants, revealing overlapping genetic etiology and subsets with no common risk factors.

This study investigates the genetic and genomic links between NBIA and PD, finding no strong association and suggesting they may be distinct conditions.