Author

Lital Cohen-Vig

The University of MelbourneORCID 0000-0002-4750-4666Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Dror KrausiD· 1 shared Ingrid Eileen SchefferiD· 1 shared Jacob E. MunroiD· 1 shared Joshua ReidiD· 1 shared Mark F. BennettiD· 1 shared Melanie BahloiD· 1 shared Michael S. HildebrandiD· 1 shared Neblina SiktaiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Dror KrausORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 4, 2026

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

Lital Cohen-Vig, Jacob E. Munro, Joshua Reid…·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.

1 citation

humanstatistical model

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