Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing
These results confirm that contiguous gene CNVs are an important cause of HI which should be included in standard gene panel testing processes as this will improve pick-up rates for genetic diagnoses in HI.
Authors
- Sarah Elizabeth Flanagan (ORCID: https://orcid.org/0000-0002-8670-6340)
- James T. Bennett (ORCID: https://orcid.org/0000-0003-2843-5594)
- Jayne Houghton (ORCID: https://orcid.org/0000-0001-9474-1536)
- Matthew N. Wakeling (ORCID: https://orcid.org/0000-0002-6542-9241)
- Thomas W. Laver (ORCID: https://orcid.org/0000-0001-6399-0089)
- Jonna M. E. Männistö (ORCID: https://orcid.org/0000-0002-0596-0719)
- Matthew B. Johnson (ORCID: https://orcid.org/0000-0002-6519-6687)
- Oğuzhan Kalyon
- Isabella-Anna Lazaridi
Institutions
- University of Eastern Finland (FI)
- University of Exeter (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-02-18
- DOI
- https://doi.org/10.3389/fendo.2025.1514916
- Citations
- 1
- Primary Topic
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Type
- article
- Field-Weighted Citation Impact
- 1.29
Funders
- Wellcome Trust
- National Institute for Health and Care Research
- British Heart Foundation
- Department of Health and Social Care
- Diabetes UK
- Lastentautien Tutkimussäätiö