Author

Tom Witkowski

The University of Melbourne

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· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ingrid Eileen SchefferiD· 3 shared Joshua ReidiD· 3 shared Mark F. BennettiD· 3 shared Melanie BahloiD· 3 shared Michael S. HildebrandiD· 3 shared Samuel Frank BerkoviciD· 3 shared Caitlin A. BennettiD· 2 shared Jacob E. MunroiD· 2 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

Ingrid Eileen SchefferORCID

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3 papers

Recent·Most cited

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

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

A complex duplication overlapping FBRSL1 implicated in a developmental and epileptic encephalopathy

Lital Cohen-Vig, Jacob E. Munro, Joshua Reid, Tom Witkowski, Neblina Sikta, Dror Kraus, Mark F. Bennett, Ingrid Eileen Scheffer, Michael S. Hildebrand, Melanie Bahlo, Samuel Frank Berkovic

The paper reports a novel complex structural variant at the FBRSL1 locus causing a dominant-negative mechanism, leading to a severe developmental and epileptic encephalopathy in a patient with additional congenital abnormalities.

medRxiv · Apr 4, 2026 · PreprintGenetic & Genomic Medicine