Author

Jonna M. E. Männistö

University of Eastern FinlandORCID 0000-0002-0596-0719Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1

Frequent Co-Authors

Jayne HoughtoniD· 3 shared Matthew Neil WakelingiD· 3 shared Sarah Elizabeth FlanaganiD· 3 shared Indraneel BanerjeeiD· 2 shared Jasmin J. BennettiD· 2 shared Matthew B. JohnsoniD· 2 shared Nick D. L. OwensiD· 2 shared Thomas William LaveriD· 2 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Jayne HoughtonORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicineEBioMedicinePeer-reviewedMay 25, 2026

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…·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.

DOI 10.1016/j.ebiom.2026.106308

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintDec 18, 2025

A 94-bp Deletion in the Promoter of the Beta-Cell Disallowed gene SLC16A1 causing Adult-onset Hyperinsulinism

Jasmin J. Bennett, Hazem Ibrahim, Jonna M. E. Männistö…·Sarah Elizabeth Flanagan

This study identifies a 94-bp deletion in the SLC16A1 promoter causing hyperinsulinism by increasing MCT1 expression and triggering inappropriate insulin secretion during physical activity.

DOI 10.64898/2025.12.16.25342131

humanexperimental assay

𝕏 PostBluesky

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedApr 11, 2024

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption of FOXA2

Thomas William Laver, Matthew Neil Wakeling, Richard C. Caswell…·Sarah Elizabeth Flanagan

The paper identifies chromosome 20p11.2 deletions as a cause of congenital hyperinsulinism by disrupting FOXA2 expression in pancreatic beta-cells.

7 citations

humanwhole-exome sequencing

𝕏 PostBluesky