Author

Greta Gillies

Murdoch Children's Research Institute

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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Genetic & Genomic Medicine· 3 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 5 Approach:statistical model· 5 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Research Focus:differential expression· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:cell type annotation· 1

Frequent Co-Authors

Paul J. LockhartiD· 5 shared Kate PopeiD· 4 shared Martin Bruce DelatyckiiD· 4 shared Melanie BahloiD· 4 shared David J. SzmulewicziD· 3 shared Haloom RafehiiD· 3 shared Mark F. BennettiD· 3 shared Abhishek Malhotra· 2 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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5 shared papersGenetic & Genomic Medicine

Paul J. LockhartORCID

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Author profile →

5 papers

Recent·Most cited

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia

Breana Galea, Joshua Reid, Samuel Gooley, Tom Witkowski, Tara Lane, Sian Macdonald, Timothy E. Green, Zimeng Ye, Thiuni N. Adikari, Kristian John Bulluss, Saul Alator Mullen, Caitlin A. Bennett, Brialie Forster, Gabi Bradshaw, Wendi Lin, , Michael S. Hildebrand

This study uses deep sequencing to identify genetic variants in focal cortical dysplasias, finding pathogenic variants in 71% of cases and highlighting the importance of somatic variants in FCDIIb.

Progress in Neuro-Psychopharmacology and Biological Psychiatry · Aug 1, 2026Peer-reviewedGenetic & Genomic Medicine

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

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

Krysta J. Trevis, Natasha J. Brown, Cherie C. Green, Paul J. Lockhart, Peter Hickey, Miriam Fanjul‐Fernández, Catherine J. Bromhead, Tarishi Desai, Tanya Vick, Greta Gillies, Hayley Mountford, Elizabeth Fitzpatrick, Lavinia Gordon, Peter Hewson, Vicki A. Anderson, , Sarah J. Wilson

The paper identifies four psychological endophenotypes of the Broader Autism Phenotype using phenotyping in large multiplex families and shows high sensitivity and specificity for BAP classification.

International Journal of Molecular Sciences · Oct 27, 2020Peer-reviewedNeuroscience

Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L. M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew Martin Chancellor, Phillip D. Cremer, Martin Bruce Delatycki, , Paul J. Lockhart

This study validates new bioinformatic tools to identify expanded repeats, discovering a novel intronic pentamer expansion in RFC1 causing CANVAS.

The American Journal of Human Genetics · Jun 20, 2019Peer-reviewedGenetics