Author

Stephen H. Tisch

UNSW SydneyORCID 0000-0002-2483-1816Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Abhishek Malhotra· 1 shared Brent L. FogeliD· 1 shared David J. SzmulewicziD· 1 shared Egor DolzhenkoiD· 1 shared Ernest Gerard ButleriD· 1 shared Greta Gillies· 1 shared Haloom RafehiiD· 1 shared Jacob E. MunroiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abhishek Malhotra

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1 paper

Recent·Most cited

An intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)

Haloom Rafehi, Justin L. Read, David J. Szmulewicz, Kayli C. Davies, Penny Snell, Liam G. Fearnley, Liam Scott, Mirja Thomsen, Greta Gillies, Kate Pope, Mark F. Bennett, Jacob E. Munro, Kathie J. Ngo, Luke Chen, Mathew Wallis, , Paul J. Lockhart

This study identifies a novel intronic GAA repeat expansion in FGF14 as a cause of autosomal dominant adult-onset ataxia, with (GAA)>335 being fully penetrant and (GAA)>250 likely pathogenic.

The American Journal of Human Genetics · Dec 8, 2022Peer-reviewedGenetic & Genomic Medicine