Susan Bressman

Perisynaptic matrix gene variants underlie DystoniaGeneNet endophenotypes in isolated focal dystonia

This paper uses a deep learning model to identify genetic variants associated with isolated focal dystonia by leveraging neuroimaging endophenotypes.

Peripheral Immune Alterations and T Cell Clonal Dynamics Across the Parkinson's Disease Spectrum

This study uses single-cell RNA sequencing and TCR profiling to analyze immune changes in Parkinson's disease across different stages and identifies sex-dependent immune alterations and TCR diversity.

Integrated Stress Response Signatures Drive Monocyte Dysfunction in GBA1- and LRRK2-Linked Parkinson's Disease

The paper identifies integrated stress response (ISR) signatures and proteostasis defects in monocytes from GBA1- and LRRK2-linked Parkinson's disease, linking them to immune dysfunction.

Discordant transcriptional signatures of mitochondrial genes in Parkinson's disease human myeloid cells

The paper identifies discordant mitochondrial gene expression patterns in PD monocytes and microglia, revealing distinct transcriptomic alterations in these myeloid cell types.

Genome-wide association studies of LRRK2 modifiers of Parkinson's disease

This study identifies genetic modifiers of LRRK2 mutations in Parkinson's disease, finding a significant variant in CORO1C and a polygenic risk score effect on penetrance.

Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia

The paper identifies ultra-rare exonic variants in an Ashkenazi Jewish founder population, implicating cadherins in schizophrenia through recurrent mutations and altered purifying selection.

High-depth whole genome sequencing of a large population-specific reference panel: Enhancing sensitivity, accuracy, and imputation

The paper sequenced a population-specific reference panel at high depth to improve imputation accuracy and variant filtering in the Ashkenazi Jewish population.