Marco Toffoli

VACmap: An Accurate Long-Read Aligner for Unraveling Complex Genomic Rearrangements

VACmap improves detection of complex genomic rearrangements like inversions and duplications, which are critical for understanding diseases such as cardiovascular disease and Parkinson's disease.

Polygenic Parkinson's disease genetic risk score as risk modifier of parkinsonism in Gaucher disease

The paper examines how a polygenic Parkinson's disease genetic risk score modifies the risk of parkinsonism in Gaucher disease patients.

Sex-specific microglial responses to glucocerebrosidase inhibition: relevance to GBA1-linked Parkinson disease

The paper investigates sex-specific microglial responses to glucocerebrosidase inhibition and links these responses to GBA1-linked Parkinson disease.

Comprehensive analysis of GBA using a novel algorithm for Illumina whole-genome sequence data or targeted Nanopore sequencing

The paper presents two methods to accurately detect GBA variants and reciprocal recombinants, showing higher GBA variant frequency in Lewy body dementia compared to Parkinson's disease.

GBA variants in REM sleep behavior disorder: a multicenter study

This study investigates the association between GBA variants and risk for isolated REM sleep behavior disorder (iRBD) and conversion to neurodegeneration, finding higher prevalence and increased conversion rates in carriers.

Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies

This study identifies SNCA risk variants specific to RBD and overt synucleinopathies, finding distinct associations and opposite effects at the 3' end of SNCA.

Detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

The paper validates the use of Oxford Nanopore MinION for detecting GBA mutations, including missense variants and deletions, with accurate phasing and intronic analysis.