Arianna Tucci

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Clinical Reader in Genomic Medicine

Queen Mary University of London

United Kingdom

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About

Arianna Tucci is a Clinical Reader in Genomic Medicine at Queen Mary University of London, UK. Her research focuses on genomic aspects of neurological disorders, particularly the analysis of repeat expansions and their implications in various conditions. Recent publications include work on the genotyping of short tandem repeats and the pathogenicity of novel non-coding expansions, contributing significantly to the understanding of genetic factors underlying neurological diseases.

Recent Grants

Grant: Close

Myotonic dystrophy type 2: using genomics to understand frequency and expressivity of the disease

Open Date: 2025-05-01

Close Date: 2026-04-01

Grant: Close

C9orf72 associated motor neurone disease (MND):investigating the genetic penetrance, expressivity, metabolic and inflammatory clinic-ready biomarkers

Open Date: 2025-01-01

Close Date: 2026-06-29

Grant: Close

Using the 100,000 genomes project to investigate the frequency and instability of intermediate alleles of repeat expansion diseases

Open Date: 2021-09-01

Close Date: 2023-12-01

Grant: Close

Identification of novel short tandem repeat expansions in neurological disorders

Open Date: 2019-05-31

Close Date: 2024-06-22

Articles (10)

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2025

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2024

Collaborators (3)

Zhongbo Chen

UNITED KINGDOM

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Chiara Folland

University of Western Australia

AUSTRALIA

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Martin Paucar

Karolinska Institutet

SWEDEN

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Arianna Tucci

Research Interests

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Contact this professor

About

Recent Grants

Articles (10)

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

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

A Population‐Wide Exploration of the <scp><i>THAP11</i> CAG</scp> Repeat Size and Structure in the 100,000 Genomes Project and <scp>UK</scp> Biobank

Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease

The <scp><i>ZFHX3</i> GGC</scp> Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability

Increased frequency of repeat expansion mutations across different populations

Repeat expansion disorders

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis

A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project

Collaborators (3)

Zhongbo Chen

Chiara Folland

Martin Paucar

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