Author

Kathy H. C. Wu

The University of SydneyORCID 0000-0002-7405-8788Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Abhishek Malhotra· 2 shared David J. SzmulewicziD· 2 shared Ernest Gerard ButleriD· 2 shared Greta Gillies· 2 shared Haloom RafehiiD· 2 shared Justin L. Read· 2 shared Kate PopeiD· 2 shared Kayli C. DaviesiD· 2 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Abhishek Malhotra

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2 papers

Recent·Most cited

Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

Haloom Rafehi, Liam G. Fearnley, Justin L. Read, Penny Snell, Kayli C. Davies, Liam W. Scott, Greta Gillies, Genevieve C. Thompson, Tess A. Field, Aleena Eldo, Simon Bodek, Ernest Gerard Butler, Luke Chen, John Drago, Himanshu Goel, , Paul J. Lockhart

This study compares short-read and long-read sequencing for diagnosing cerebellar ataxia, finding both effective but with different strengths in repeat expansion detection.

medRxiv · Jul 8, 2024 · PreprintGenetic & Genomic Medicine

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