Bernabé I. Bustos

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.

The paper presents CHANGER, a Chilean exome reference dataset of 902 unrelated individuals, to improve genetic research and variant interpretation in South American populations.

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 identifies 34 genome-wide significant short-tandem repeat (STR) loci associated with Parkinson's disease risk and shows their functional impact on gene expression and disease pathways.

The paper identifies and replicates epistatic variant-variant interactions in Parkinson's disease across genetically diverse populations using a new pipeline called VARI3.

This study investigates the risk of Parkinson's disease associated with monoallelic PARK2 mutations, finding increased risk but highlighting confounding factors from biallelic mutations.

The paper assesses the association of NUS1 variants with Parkinson's Disease in European descent cohorts and finds no evidence of a link, suggesting previous findings may be due to population-specific variants.

The paper analyzes whole-exome data from Parkinson's disease cases and controls to show a higher burden of ultra-rare variants in early-onset cases compared to late-onset cases.

The paper presents the whole genome sequences of 11 Mapuche-Huilliche individuals, identifying novel variants and structural events, and highlights their potential relevance to disease susceptibility in admixed populations.