Laurie A. Robak

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

This study performs genome sequencing in Parkinson's disease patients and finds genetic variants in 3.4% for LRRK2 and 10.1% for GBA, with 82% of patients willing to share variants with relatives.

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.

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

The paper combines exome sequencing and array-based comparative genomic hybridization to identify genetic risk factors in familial Parkinson’s disease, finding novel SNVs and CNVs.

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.