Cornelis Blauwendraat

This study analyzes Y chromosome haplogroups and gene expression in Parkinson's disease but finds no strong associations, suggesting male prevalence may have other causes.

The paper identifies KAT8 and KANSL1 as regulators of PINK1-mitophagy linked to Parkinson's disease risk, suggesting a novel pathway for therapeutic targeting.

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.

This study identifies 3,154 high-confidence structural variants in Parkinson's disease using short-read sequencing and validates some with long-read data, highlighting limitations of short-read methods.

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

The paper shows that a non-coding genetic variant affects LRRK2 expression specifically through microglia, highlighting the importance of cell type in understanding non-coding variation's role in Parkinson's disease.

This paper develops an automated ML model to predict Parkinson's Disease using multi-modal data, achieving high AUC scores and constructing gene networks relevant to PD.

This paper improves Cas9 RNP editing in human stem cells to achieve high rates of biallelic homology-directed repair of SNVs by using dCas9 to block re-cutting and damage.

This study fine maps the association between HLA genes and Parkinson's disease in Europeans, identifying specific amino acid variants in HLA-DRB1 that are protective against PD.

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

This study identifies five RBD risk loci through genome-wide association and finds differential expression of SNCA-AS1 and SCARB2 in brain regions.

The paper identifies 38 genes regulating a-synuclein cell-to-cell transfer using an siRNA screen and shows genetic overlap with Parkinson's disease.

This study investigates sex-specific genetic factors in Parkinson's disease using GWAS but finds no significant genetic differences between male and female cases.

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

This study identifies genetic associations with Parkinson disease motor subtypes using GWAS, finding novel variants and suggesting overlap with essential tremor genetics.

This study evaluates LIN28A variants in Parkinson's disease using genotyping and sequencing data, finding no strong evidence for a major causal role but suggesting further research in non-European populations is needed.

This study examines the genetic association between ANG variants and Parkinson's disease using large-scale genotype and whole genome sequencing data, finding no significant association.

This study investigates the genetic and transcriptomic link between KTN1 and Parkinson's disease using GWAS, eQTL, and transcriptomics data, finding no genetic associations but potential expression differences.

The paper introduces a web browser for Parkinson's disease genomic data, aggregating results from 102,127 participants to aid in identifying risk genes and variants.

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 analyzes rare SNCA variation in the UK Biobank cohort, identifying copy number variants but no pathogenic missense variants or PD cases among carriers.

This paper identifies genetic variants associated with cognitive and motor progression in Parkinson's disease using GWAS and longitudinal cohort data.

The paper investigates environmental and genetic risk factors for Parkinson's disease using UK Biobank data, showing gene-environment interactions and improved prediction with polygenic risk scores.

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 examines DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease, finding no significant effect of DNM3 on age at onset but a possible interaction between LRRK2 and VAMP4.

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

The paper identifies pathway-specific polygenic risk factors and transcriptomic networks associated with Parkinson disease using large-scale genetic and expression data.

This study evaluates the role of PINK1 variants in Parkinson's disease risk using large datasets and finds no evidence supporting heterozygous PINK1 mutations as a risk factor.

The paper investigates the genetic association between alcohol dehydrogenase genes and Parkinson’s disease risk using GWAS data and finds no significant association.