Author

Rebekah V Harris

The University of MelbourneORCID 0000-0002-2648-7828Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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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-genome sequencing· 1

Frequent Co-Authors

Ingrid Eileen SchefferiD· 2 shared Mark F. BennettiD· 2 shared Michael S. HildebrandiD· 2 shared Samuel Frank BerkoviciD· 2 shared Alfred L GeorgeiD· 1 shared Amy L Schneider· 1 shared Amy SchneideriD· 1 shared Annie Ting Gee ChiuiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ingrid Eileen SchefferORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Functional analysis enables reclassification of SCN1A missense variants of uncertain significance in epilepsy

Keerthi Pilli, Talia J Allan, Mark F Bennett, Rebekah V Harris, Amy L Schneider, QianYi Shen, Joanne G Ma, Michael S Hildebrand, Elizabeth E Palmer, Alfred L George, Samuel F Berkovic, Jamie I Vandenberg, Ingrid E Scheffer, Chai-Ann Ng

This paper uses automated patch-clamp assays to reclassify SCN1A missense variants, changing classifications for 50% of tested variants.

medRxiv · Nov 9, 2026 · PreprintGenetic & Genomic Medicine

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies

Jacob E. Munro, Harshini Thiyagarajah, Mark F. Bennett, Annie Ting Gee Chiu, Amy Schneider, Caitlin A. Bennett, Nico Lieffering, Talia J. Allan, Tom Witkowski, Rebekah V. Harris, Joshua Reid, Neblina Sikta, Sian Macdonald, Lucy Coulter, Yew Li Dang, , Michael S. Hildebrand

Genome sequencing improves diagnostic yield for developmental and epileptic encephalopathies by identifying structural and non-coding variants missed by exome or gene panel testing.

medRxiv · Apr 28, 2026 · PreprintGenetic & Genomic Medicine