Author

Manny Jacobs

Victorian Clinical Genetics Services

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· 1

Signature Assays, Organisms & Methods

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Assay:electrophysiology· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Chai‐Ann NgiD· 1 shared Chek-Ying Tan· 1 shared Himanshu GoeliD· 1 shared Jamie I. VandenbergiD· 1 shared Joanne G. MaiD· 1 shared Kavitha KothuriD· 1 shared Lyn Robyn GriffithsiD· 1 shared Neven MaksemousiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Chai‐Ann NgORCID

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1 paper

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