Dan Spiegelman

This study identifies rare copy number duplications in protein coding regions as risk factors for essential tremor, but does not reliably identify specific susceptibility genes.

The paper constructs a genetic reference panel for the Quebec population using whole-genome sequencing and GWAS to improve phenotype-genotype association discovery.

The paper investigates five BRIP1/FANCJ variants for their clinical relevance in breast and ovarian cancer, finding three likely damaging variants associated with cellular sensitivity to chemotherapy drugs.

The paper identifies MLN4924 as a compound that improves cell viability in TDP-43 mutant motor neurons by targeting NEDD8-activating enzyme.

This study identifies genetic variants associated with glucocerebrosidase activity using GWAS in two cohorts, finding GBA1 variants and a novel association in the GAA locus.

This study investigates the association between G6PD variants and Parkinson's disease across six cohorts and finds no significant links for common or rare variants.

The paper investigates genetic interactions between SNCA and APOE in synucleinopathies using GWAS data and finds no significant epistatic interactions after multiple testing correction.

Segpy is a user-friendly pipeline for variant segregation analysis that supports single-family, multi-family, and population-based datasets to evaluate genetic variant co-segregation with disease.

This study investigates the role of cathepsin B in Parkinson's disease by analyzing genetic variants and manipulating catB function in cell models to assess its impact on lysosomal activity and alpha-synuclein clearance.

This study investigates the association between rare SYNJ1 variants and Parkinson's disease, finding an association with both sporadic and early-onset cases.

This study identifies de novo variants in childhood-onset OCD in a French-Canadian cohort, finding overlaps with related disorders and suggesting biological mechanisms.

This study examines the association of NPC1 variants with Parkinson's disease, REM-sleep behavior disorder, and dementia with Lewy bodies in European cohorts and finds no significant associations.

This study analyzes rare and common variants in ALS using French-Canadian data, finding that PRS and rare variants independently affect risk but do not interact significantly.

The paper investigates the association between STMN2 CA repeats and ALS risk using whole genome sequencing data and finds no significant association.

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 the inheritance pattern of SPG7 variants in hereditary spastic paraplegia, finding evidence of non-Mendelian inheritance including heterozygous variants and digenic/epistatic interactions.

This study sequenced five genes in PD patients and controls, finding no significant association with Parkinson's Disease after multiple comparisons.

This study examines the association between heterozygous PRKN variants and Parkinson's disease risk and onset, finding no significant associations.

This study overexpresses STK32B in human cerebellar cells and identifies differentially expressed genes and pathways potentially relevant to essential tremor.

The paper investigates the role of VPS13C variants in late-onset Parkinson disease, finding no significant association with rare variants but a nominal association with a haplotype.

This study performs a transcriptome-wide association study (TWAS) of ADHD, identifying 9 significant hits and linking them to dopaminergic and norepinephrine pathways, as well as several phenotypes.

This study performs a transcriptome-wide association study on 373,733 individuals to identify genes associated with miserableness, finding 104 signals across brain tissue panels and prioritizing 95 genes into credible sets.

The paper integrates multi-omics data to identify genes and pathways associated with essential tremor, finding dysregulated genes and enriched pathways in cerebellar regions.

This study uses whole-genome sequencing and a new algorithm to comprehensively characterize copy number variants in epilepsy patients and controls, finding enrichment of rare exonic and non-coding variants.