Author

Kavitha Kothur

The University of SydneyORCID 0000-0002-0109-8877Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Assay:electrophysiology· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anthony Simon HarveyiD· 1 shared Breana Galea· 1 shared Brialie Forster· 1 shared Caitlin A. BennettiD· 1 shared Chai‐Ann NgiD· 1 shared Chek-Ying Tan· 1 shared Colleen E. D’ArcyiD· 1 shared Deepak S. GilliD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Anthony Simon HarveyORCID

Mutual co-authors in cluster

Author profile →

2 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

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