Ignacio Fernandez Mata

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

NeuroPupil improves cross-species pupillometry with a deep learning framework, achieving better accuracy and efficiency while enabling reliable biological insights.

This study evaluates polygenic risk scores for Parkinson's disease in admixed Latin American populations, finding that European-derived PRS outperform ancestry-matched but underpowered datasets.

This study performs genetic screening of South African Parkinson's disease patients, identifying rare variants and CNVs in known PD genes, highlighting their contribution to disease in an underrepresented population.

This study conducts the first XWAS in an African cohort, identifying X chromosome variants associated with Parkinson's disease susceptibility in males and females.

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 evaluates polygenic risk scores for Parkinson's disease in a South African cohort, finding modest predictive performance and no ancestry-specific risk variants.

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.

DeepFace improves facial tracking and cortical activity prediction in mice by building on existing tools with scalability and precision enhancements.

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 analyzes genetic diversity in the All of Us Research Program, showing that self-identified race and ethnicity groups exhibit continuous genetic variation rather than discrete clusters, with implications for genetic association studies.

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

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.

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

This study evaluates how imputation reference panel composition affects imputation quality in four Latin American cohorts, finding that increasing Latin American representation improves quality but results vary by population and chromosome.

The paper conducts an X-chromosome association study in Latin American cohorts, identifying new loci linked to Parkinson Disease and replicating previous findings.

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

This paper reviews the lack of diversity in Parkinson's disease genetics research, highlighting underrepresentation of non-European populations and the need for more inclusive studies.

The paper constructs and validates a polygenic risk score for Parkinson's disease in a Latino cohort, finding ancestry-related biases and haplotype associations at the SNCA locus.

The paper investigates RIC3 variants' association with Parkinson's Disease in multiple cohorts and finds no significant association.

This study conducts the first GWAS of Parkinson's disease in Latinos, identifies SNCA as significant, and finds genetic overlap with Europeans.

The paper analyzes copy number variants in Latin American Parkinson's disease patients and finds enrichment of variants overlapping known Parkinson's genes, particularly PARK2, associated with early-onset disease.