Multiscale modeling uncovers 7q11.23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability

Copy number variation (CNV) at 7q11.23 causes Williams-Beuren syndrome (WBS) and 7q microduplication syndrome (7Dup), neurodevelopmental disorders (NDDs) featuring intellectual disability accompanied by symmetrically opposite neurocognitive features. Although significant progress has been made in un...

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Bibliographic Details

Published in:	The Journal of Clinical Investigation
Main Authors:	Marija Mihailovich, Pierre-Luc Germain, Reinald Shyti, Davide Pozzi, Roberta Noberini, Yansheng Liu, Davide Aprile, Erika Tenderini, Flavia Troglio, Sebastiano Trattaro, Sonia Fabris, Ummi Ciptasari, Marco Tullio Rigoli, Nicolò Caporale, Giuseppe D’Agostino, Filippo Mirabella, Alessandro Vitriolo, Daniele Capocefalo, Adrianos Skaros, Agnese Virginia Franchini, Sara Ricciardi, Ida Biunno, Antonino Neri, Nael Nadif Kasri, Tiziana Bonaldi, Rudolf Aebersold, Michela Matteoli, Giuseppe Testa
Format:	Article
Language:	English
Published:	American Society for Clinical Investigation 2024-07-01
Subjects:	Neuroscience Stem cells
Online Access:	https://doi.org/10.1172/JCI168982