Author

Timothy Stone

Cardiff University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Research Focus:GWAS / association mapping· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Afroditi Chatzi· 2 shared Alastair Maxwell· 2 shared Branduff McAllisteriD· 2 shared Christopher Medway· 2 shared Cristina SampaioiD· 2 shared Darren G. MoncktoniD· 2 shared Diane E. LucenteiD· 2 shared Douglas Barker· 2 shared

Activity by Year

2019-2019 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Afroditi Chatzi

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2 papers

Recent·Most cited

Genetic risk underlying psychiatric and cognitive symptoms in Huntington’s Disease

Natalie Ellis, Amelia Tee, Branduff McAllister, Thomas H. Massey, Duncan James McLauchlan, Timothy Stone, Kevin Correia, Jacob M. Loupe, Kyung‐Hee Kim, Douglas Barker, Eun Pyo Hong, Michael J. Chao, Jeffrey D. Long, Diane E. Lucente, Jean Paul Vonsattel, , Peter Holmans

The paper investigates genetic risk factors for psychiatric and cognitive symptoms in Huntington’s Disease using polygenic risk scores and finds associations between specific psychiatric risk scores and corresponding symptoms.

Biological Psychiatry · Dec 17, 2019Peer-reviewedGenetics

Huntington's disease onset is determined by length of uninterrupted CAG, not encoded polyglutamine, and is modified by DNA maintenance mechanisms

Jong‐Min Lee, Kevin Correia, Jacob M. Loupe, Kyung‐Hee Kim, Douglas Barker, Eun Pyo Hong, Michael J. Chao, Jeffrey D. Long, Diane E. Lucente, Jean‐Paul Vonsattel, Ricardo Mouro Pinto, Kawther Abu Elneel, Eliana Marisa Ramos, Jayalakshmi Srinidhi Mysore, Tammy Gillis, , Richard H. Myers

This study shows that the length of uninterrupted CAG repeats, not the encoded polyglutamine segment, determines Huntington's disease onset, and DNA maintenance genes modify this process.

bioRxiv · Jan 24, 2019 · PreprintGenetics