Author

Neven Maksemous

Queensland University of TechnologyORCID 0000-0002-4891-4333Unclaimed ORCID profile · follow to get notified of new preprints

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· 2 Research Focus:variant effect prediction· 2 Assay:electronic health records· 1 Assay:electrophysiology· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Lyn Robyn GriffithsiD· 3 shared Chai‐Ann NgiD· 2 shared Chek-Ying Tan· 2 shared Himanshu GoeliD· 2 shared Jamie I. VandenbergiD· 2 shared Joanne G. MaiD· 2 shared Abhishek Malhotra· 1 shared Bryony A. ThompsoniD· 1 shared

Activity by Year

2026-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Lyn Robyn GriffithsORCID

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3 papers

Recent·Most cited

A benign control-calibrated multiparametric functional assay supports CACNA1A variant assessment

Chek-Ying Tan, Neven Maksemous, Joanne G. Ma, Sangavi Sivagnanasundram, Qianyi Shen, Shrey Sharma, Himanshu Goel, Manny Jacobs, Zornitza Stark, Kavitha Kothur, Lyn Robyn Griffiths, Jamie I. Vandenberg, Chai‐Ann Ng

This paper develops a calibrated functional assay to assess CACNA1A variants, showing it can accurately classify pathogenic and benign variants with high specificity and sensitivity.

medRxiv · Oct 14, 2026 · PreprintGenetic & Genomic Medicine

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

Whole Exome Sequencing of Suspected Monogenic Cerebral Small Vessel Disease Patients reveals Novel Gene Associations

Solomon K. Guyler, Mohammed M. Alfayyadh, Neven Maksemous, Rod A. Lea, Robert A. Smith, Heidi G. E. Sutherland, Lyn Robyn Griffiths

The paper performs whole exome sequencing on CSVD patients to identify novel gene associations and finds significant variants in ABCC6, MYH11, NOTCH1, and seven other genes.

medRxiv · Feb 16, 2026 · PreprintGenetic & Genomic Medicine