Author

T. Harel

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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Biochemistry· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:chromatin & epigenetic regulation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Assay:structural biology· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

A. G. O'Neill· 1 shared A. L. Burrell· 1 shared A. L. Rippert· 1 shared B. Pode-Shakked· 1 shared D. Raved· 1 shared H. M. Shaked· 1 shared H. Shani· 1 shared Hagar Mor· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperBiochemistry

A. G. O'Neill

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Author profile →

2 papers

Recent·Most cited

A Framework for Variant Filtering to Improve Diagnostic Outcomes in Genome Sequencing

R. Birnbaum, K. Lee, Y. Mazor, Y. Unger, S. Yanovsky-Dagan, I. Grundwag, M. Chalk, N. Shaul-Lotan, L. Greenbaum, O. Freireich, T. Klopstock, T. Dror, M. Sebbagh, R. Beeri, O. Murik, , Hagar Mor

This paper introduces a variant filtering framework called SMART filtering to improve diagnostic outcomes in genome sequencing by prioritizing non-coding and regulatory variants.

medRxiv · Nov 9, 2026 · PreprintGenetic & Genomic Medicine

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

A. G. O'Neill, A. L. Burrell, M. Zech, O. Elpeleg, T. Harel, S. Edvardson, H. M. Shaked, A. L. Rippert, T. Nomakuchi, K. Izumi, J. M. Kollman

The paper identifies two new IMPDH2 mutations linked to neurodevelopmental disorders and shows they disrupt GTP regulation and enzyme function through structural and functional analysis.

bioRxiv · Mar 15, 2023Biochemistry