Author

Anna-Marie Johnson

University of Exeter

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· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Antonia DastamaniiD· 1 shared Bianca Fiorella Miranda Cabrera· 1 shared Birgit M. Rami-MerhariD· 1 shared Chirantap Markand OzaiD· 1 shared Diva D. De LeóniD· 1 shared Doha S. Alhomaidah· 1 shared Eiroa Hernan· 1 shared Elisa De FrancoiD· 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

Antonia DastamaniORCID

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1 paper

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