Author

Antonia Dastamani

Great Ormond Street HospitalORCID 0000-0002-6332-3136Unclaimed 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 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Birgit M. Rami-MerhariD· 2 shared Elisa De FrancoiD· 2 shared Indraneel BanerjeeiD· 2 shared Jayne HoughtoniD· 2 shared Matthew B. JohnsoniD· 2 shared Matthew Neil WakelingiD· 2 shared Sarah Elizabeth FlanaganiD· 2 shared Verónica Mericq GiD· 2 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Birgit M. Rami-MerharORCID

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2 papers

Recent·Most cited

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA

Jasmin J Bennett, Thomas W. Laver, Jonna M. E. Männistö, Jayne Houghton, Elisa De Franco, Oğuzhan Kalyon, Sabrina Wright, Anna-Marie Johnson, Diva D. De León, Evgenia Globa, Sebastian Kummer, Indraneel Banerjee, Antonia Dastamani, Teoman Akçay, Doha S. Alhomaidah, , Sarah Elizabeth Flanagan

This study detects low-level mosaic variants in blood DNA from individuals with congenital hyperinsulinism using tNGS and confirms them with ddPCR.

EBioMedicine · May 25, 2026Peer-reviewedGenetic & Genomic Medicine

A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling HK1

Matthew Neil Wakeling, Nick D. L. Owens, Jessica R. Hopkinson, Matthew B. Johnson, Jayne Houghton, Antonia Dastamani, Christine S. Flaxman, Rebecca C. Wyatt, Thomas I. Hewat, Jasmin J. Hopkins, Thomas William Laver, Rachel van Heugten, Michael N. Weedon, Elisa De Franco, Kashyap Amratlal Patel, , Sarah Elizabeth Flanagan

The paper identifies non-coding mutations in a regulatory element of HK1 that lead to inappropriate expression in pancreatic beta-cells and cause congenital hyperinsulinism.

Nature Genetics · Nov 1, 2022Peer-reviewedGenetic & Genomic Medicine