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

Institutions

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
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis

Nicola Pietrafusa, Maurizio Viri, Gemma Marinella, Adele Rocchetti et al.
European Journal of Medical Genetics
Genetic Syndromes and Imprinting
article

The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis

Nicola Pietrafusa, Maurizio Viri, Gemma Marinella, Adele Rocchetti, Paola Torreri, Paola Martelli, S. Sartori, Silvia Russo, Vittoria Cianci, G. Buoncuore, Luca Soliani, E Ferlazzo, Tullio Messana, Carla Battisti, Marco Salvatore, A. Danieli, Tommaso Prisco, E. Veneselli, Michelina Armando, Giuseppe Gobbi, Maria Federica Pelizza, Chiara Bagliani, 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
article en

Abstract

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.

European Journal of Medical GeneticsVol. 79
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)
Openalex Percentile: Top 92%
Genetic Syndromes and Imprinting
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.