Author

Fiona Richards

Children's Hospital at Westmead

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

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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alicia SemakaiD· 1 shared Brett TrostiD· 1 shared Britt I. DrögemölleriD· 1 shared Cassandra L. McDonaldiD· 1 shared Charlotte M. Nguyen· 1 shared Chris KayiD· 1 shared Colin J. RossiD· 1 shared Egor DolzhenkoiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alicia SemakaORCID

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1 paper

Recent·Most cited

Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease

Galen E.B. Wright, Jennifer A. Collins, Chris Kay, Cassandra L. McDonald, Egor Dolzhenko, Qingwen Xia, Kristina Bečanović, Britt I. Drögemöller, Alicia Semaka, Charlotte M. Nguyen, Brett Trost, Fiona Richards, Emilia K. Bijlsma, Ferdinando Squitieri, Colin J. Ross, , Michael R. Hayden

This study identifies a genetic variant that reduces interruption between CAG and CCG repeats in the HTT gene, leading to earlier onset of Huntington disease and increased somatic instability.

The American Journal of Human Genetics · May 16, 2019Peer-reviewedGenetics