Author

Abhishek Malhotra

Geelong Hospital

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· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Assay:electronic health records· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Paul J. LockhartiD· 3 shared Penny SnelliD· 3 shared David J. SzmulewicziD· 2 shared Ernest Gerard ButleriD· 2 shared Greta Gillies· 2 shared Haloom RafehiiD· 2 shared Himanshu GoeliD· 2 shared Justin L. Read· 2 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Paul J. LockhartORCID

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Author profile →

3 papers

Recent·Most cited

Calibrated high-throughput electrophysiology enables clinical interpretation of CACNA1G missense variants

Rocio K. Finol‐Urdaneta, Chek-Ying Tan, Neven Maksemous, Joanne G. Ma, Paul J. Lockhart, Penny Snell, Abhishek Malhotra, Bryony A. Thompson, Gunjan Garg, Himanshu Goel, Lyn Robyn Griffiths, David J. Adams, Jamie I. Vandenberg, Chai Ann Ng

This paper develops a calibrated electrophysiological framework to classify CACNA1G missense variants, identifying two variants as likely pathogenic and others as benign.

bioRxiv · May 18, 2026 · PreprintNeuroscience

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