A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient

by Natascia Malerba, Shelley Towner, Katherine Keating, Gabriella Maria Squeo, William Wilson, Giuseppe Merla
Published 2018-12-01

Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out huma...

by Natascia Malerba, Patrizia Benzoni, Gabriella Maria Squeo, Raffaella Milanesi, Federica Giannetti, Lynette G. Sadleir, Gemma Poke, Bartolomeo Augello, Anna Irma Croce, Andrea Barbuti, Giuseppe Merla
Published 2019-10-01

Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration

by Consiglia Pacelli, Iolanda Adipietro, Natascia Malerba, Gabriella Maria Squeo, Claudia Piccoli, Angela Amoresano, Gabriella Pinto, Pietro Pucci, Ji-Eun Lee, Kai Ge, Nazzareno Capitanio, Giuseppe Merla
Published 2020-07-01

Genomic and Genetic Disorders Biobank

by Carmela Fusco, Lucia Micale, Maria Teresa Pellico, Ester Valentina D'Addetta, Bartolomeo Augello, Barbara Mandriani, Pasquelena De Nittis, Dario Cocciadiferro, Natascia Malerba, Michele Sacco, Leopoldo Zelante, Giuseppe Merla
Published 2015-03-01

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

by Francesca Romana Lepri, Dario Cocciadiferro, Bartolomeo Augello, Paolo Alfieri, Valentina Pes, Alessandra Vancini, Cristina Caciolo, Gabriella Maria Squeo, Natascia Malerba, Iolanda Adipietro, Antonio Novelli, Stefano Sotgiu, Renzo Gherardi, Maria Cristina Digilio, Bruno Dallapiccola, Giuseppe Merla
Published 2017-12-01