The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis
The IReAS provides comprehensive data on the diagnosis, genetic subtypes and clinical features of AS patients. It can facilitate genotype-phenotype correlation analyses, offering insights into the AS natural history and potential implications for research on targeted therapies.
Authors
- Nicola Pietrafusa (ORCID: https://orcid.org/0000-0003-2446-796X)
- Maurizio Viri (ORCID: https://orcid.org/0000-0003-2701-8254)
- Gemma Marinella (ORCID: https://orcid.org/0000-0002-8930-3491)
- Adele Rocchetti
- Paola Torreri (ORCID: https://orcid.org/0000-0002-0488-956X)
- Paola Martelli
- S. Sartori
- Silvia Russo (ORCID: https://orcid.org/0000-0002-4542-5112)
- Vittoria Cianci (ORCID: https://orcid.org/0000-0002-2352-5710)
- G. Buoncuore
- Luca Soliani (ORCID: https://orcid.org/0000-0002-1411-9200)
- E Ferlazzo
- Tullio Messana (ORCID: https://orcid.org/0000-0002-0822-6341)
- Carla Battisti
- Marco Salvatore (ORCID: https://orcid.org/0000-0001-9734-7702)
- A. Danieli
- Tommaso Prisco
- E. Veneselli
- Michelina Armando
- Giuseppe Gobbi
- Maria Federica Pelizza
- Chiara Bagliani (ORCID: https://orcid.org/0009-0006-6782-8912)
- Carla Marini
- Maurizio Elia
- Stefano Sartori
- Michele Germano
- Lorenzo Facciaroni
- Francesca Bisulli
- Elisa Fazzi
- Renzo Guerrini
- Maria Margherita Mancardi
- Silvia Russo
- Carlotta Stipa
- Duccio Maria Cordelli
Institutions
- University of Padua (IT)
- Università degli Studi di Enna Kore (IT)
- Istituto Superiore di Sanità (IT)
- Casa Sollievo della Sofferenza (IT)
- Istituto Giannina Gaslini (IT)
- Oasi Maria SS (IT)
- Institute of Neurological Sciences (IT)
- Bambino Gesù Children's Hospital (IT)
- Fondazione Stella Maris (IT)
- IRCCS Istituto Auxologico Italiano (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
Publication Details
- Journal
- European Journal of Medical Genetics
- Published
- 2026-01-01
- DOI
- https://doi.org/10.1016/j.ejmg.2026.105067
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00