Author

Agata Oliwa

Newcastle UniversityORCID 0000-0002-3892-1011Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Akira OhtakeiD· 1 shared Aleksandra FilipovskaiD· 1 shared Alison G. ComptoniD· 1 shared Andrew Michael FreyiD· 1 shared Charlotte L. AlstoniD· 1 shared Daniella Helena HockiD· 1 shared David A. StroudiD· 1 shared David Ross ThorburniD· 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

Akira OhtakeORCID

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1 paper

Recent·Most cited

De novo truncation variants in the low-complexity C-terminal region of XRN1 are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy

Liana N. Semcesen, Lucie S Taylor, Leah E. Frajman, Marisa W. Friederich, Andrew Michael Frey, Stefan J. Siira, Daniella Helena Hock, Tegan L. Stait, Sila Hopton, Yoshihito Kishita, Queenie K.‐G. Tan, Vandana Shashi, Muriel Holder-Espinasse, Hugh A. Lemonde, Kay Metcalfe, , Alison G. Compton

The paper identifies de novo truncating variants in XRN1's C-terminal region causing lethal infantile mitochondrial cardiomyopathy by disrupting its interaction with EDC4.

medRxiv · Jan 11, 2026 · PreprintGenetic & Genomic Medicine