Arianna Tucci
6PUBLICATIONS
68CO-AUTHORS
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Publications (6)
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|Feb 26, 2025
Rare disease gene association discovery in the 100,000 Genomes Project.Valentina Cipriani, Letizia Vestito, Emma F Magavern
|Feb 26, 2025
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.Clarissa Rocca, David Murphy, Chris Clarkson
|Jan 27, 2025
Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study.Marco Foddis, Sonja Blumenau, Susanne Mueller
|Oct 01, 2024
Increased frequency of repeat expansion mutations across different populations.Kristina Ibañez, Bharati Jadhav, Matteo Zanovello
|Sep 23, 2024
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.Bharati Jadhav, Paras Garg, Joke J F A van Vugt
|Sep 16, 2020
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.Thomas Bourinaris, Damian Smedley, Valentina Cipriani
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Frequent Collaborators
4 joint publications
Henry Houlden
2 joint publications
Damian Smedley
2 joint publications
Mark J Caulfield
2 joint publications
Matteo Zanovello
2 joint publications
Andrew J Sharp
1 joint publications
Isabella Sheikh
1 joint publications
Patrick Chinnery
1 joint publications
Sean L Zheng
1 joint publications
Raquel Real
1 joint publications
Gabrielle Altman
