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Arianna Tucci | doi.page

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Arianna Tucci

Queen Mary University of London(GB)MRC Prion Unit(GB)Genomics England(GB)William Harvey Research Institute(GB)National Hospital for Neurology and Neurosurgery(GB)University College London(GB)

Publications by Year

Research Areas

Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, RNA and protein synthesis mechanisms

Most-Cited Works

→ Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli(2020)1,086 cited
→ PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels(2019)571 cited
→ ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions(2019)384 cited
→ Substitution mutational signatures in whole-genome–sequenced cancers in the UK population(2022)273 cited
→ Genetic and phenotypic characterization of complex hereditary spastic paraplegia(2016)221 cited
→ Inhibition of NF-κB nuclear translocation via HO-1 activation underlies α-tocopheryl succinate toxicity(2012)210 cited

→ A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage(2021)

165 cited

→ Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset(2019)158 cited

→ Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course(2011)154 cited

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study(2022)