Variant reclassification over time decreases the level of diagnostic uncertainty in monogenic obesity: Experience from two centres
Our variant reassessment was effective to improve classification certainty for the 39% of patients and suggested that the molecular diagnosis of monogenic obesity is becoming more accurate over time.
Authors
- Elena Fornari (ORCID: https://orcid.org/0000-0003-0756-3773)
- Alice Maguolo (ORCID: https://orcid.org/0000-0002-8921-2012)
- Claudia Anita Piona (ORCID: https://orcid.org/0000-0001-5168-8317)
- Anita Morandi (ORCID: https://orcid.org/0000-0002-2631-9330)
- Claudio Maffeis (ORCID: https://orcid.org/0000-0002-3563-4404)
- Emanuele Miraglia del Giudice (ORCID: https://orcid.org/0000-0002-1492-076X)
- Paolo Cavarzere
- Grazia Cirillo (ORCID: https://orcid.org/0000-0002-7823-972X)
- Carolà Panzeri
- Federica Emiliani
- Francesca Olivieri (ORCID: https://orcid.org/0000-0002-0951-4863)
- Giuseppina Rosaria Umano (ORCID: https://orcid.org/0000-0002-5570-6620)
- Massimiliano Corradi
Institutions
- University of Verona (IT)
- Scania (Sweden) (SE)
- Lund University (SE)
- University of Campania "Luigi Vanvitelli" (IT)
Publication Details
- Journal
- Pediatric Obesity
- Published
- 2024-10-27
- DOI
- https://doi.org/10.1111/ijpo.13183
- Citations
- 4
- Primary Topic
- Diet and metabolism studies
- Type
- article
- Field-Weighted Citation Impact
- 1.31
Funders
- European Commission
- Università degli Studi di Verona
- HORIZON EUROPE Framework Programme