Carolin Gabbert

The paper identifies rare noncoding variants associated with Parkinson's disease using multi-omic data from over 3.3 million nuclei.

This study compares long-read sequencing and optical genome mapping in detecting structural variants in Parkinson's disease, finding OGM better detects large variants while ONT provides high-resolution refinement.

The paper validates a mitochondrial polygenic score for Parkinson's disease across diverse populations, finding strong associations in Europeans and Ashkenazi Jews but not in other ancestries.

The paper updates and expands the MDSGene database with clinical and genetic data on LRRK2 variants in Parkinson's disease, including 7,885 individuals and 292 variants.

The paper examines how polygenic scores and lifestyle factors influence age at onset in Parkinson's disease, finding that lifestyle factors have a larger impact than genetic variants.

The paper evaluates Oxford Nanopore sequencing for detecting GBA variants in Parkinson's disease patients and controls, finding high true-positive rates and identifying two pathogenic variants.

This study examines how a mitochondrial polygenic score interacts with environmental factors to influence age at onset in LRRK2-PD and iPD, finding ethnic-specific effects and gene-environment interactions.

This study explores associations between coffee, smoking, and aspirin use with age at onset and clinical severity in idiopathic Parkinson's disease using a large cohort.