Chiara Pantaleoni

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 9

Top Topics

Intellectual Disability

Tyrosine Kinase

Temporal Lobe Epilepsy

Top Venues

American journal of medical genetics. Part A

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Claudia Ciaccio, Chiara Pantaleoni, Marco E M Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Sciacca Francesca Luisa, Canafoglia Laura, Sara Bulgheroni, Stefano D'Arrigo
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome. Neurology. Genetics 9 (2) (2023)
Arianna De Laurentiis, Claudia Ciaccio, Alessandra Erbetta, Michele Pinelli, Vincenzo Nigro, Chiara Pantaleoni, Stefano D'Arrigo
Periventricular heterotopia in a male child with USP9X missense variant. American journal of medical genetics. Part A (2023)
Claudia Ciaccio, Chiara Pantaleoni, Marco E M Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Sciacca Francesca Luisa, Canafoglia Laura, Sara Bulgheroni, Stefano D'Arrigo
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome. Neurology. Genetics 9 (2) (2023)
Claudia Ciaccio, Chiara Pantaleoni, Marco E M Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Sciacca Francesca Luisa, Canafoglia Laura, Sara Bulgheroni, Stefano D'Arrigo
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome. Neurology. Genetics 9 (2) (2023)
Claudia Ciaccio, Chiara Pantaleoni, Marco E M Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Sciacca Francesca Luisa, Canafoglia Laura, Sara Bulgheroni, Stefano D'Arrigo
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3 -Related Syndrome. Neurology. Genetics 9 (2) (2023)
Matthew A Lines, Paula Goldenberg, Ashley Wong, Siddharth Srivastava, Allan Bayat, Hanne Hove, Helena Gásdal Karstensen, Kwame Anyane-Yeboa, Jun Liao, Nan Jiang, Alison May, Edwin Guzman, Manuela Morleo, Stefano D'Arrigo, Claudia Ciaccio, Chiara Pantaleoni, Raffaele Castello, null null, Shane McKee, Jinfon Ong, Hana Zibdeh-Lough, Frederic Tran-Mau-Them, Anna Gerasimenko, Delphine Heron, Boris Keren, Henri Margot, Jean-Madeleine de Sainte Agathe, Lydie Burglen, Thomas Voets, Joris Vriens, A Micheil Innes, David A Dyment
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. American journal of medical genetics. Part A 188 (6) (2022)
Claudia Ciaccio, Chiara Pantaleoni, Donatella Milani, Enrico Alfei, Francesca L Sciacca, Laura Canafoglia, Alessandra Erbetta, Stefano D'Arrigo
Neurological phenotype of Potocki-Lupski syndrome. American journal of medical genetics. Part A 182 (10) (2020)
Claudia Ciaccio, Elena Cellini, Renzo Guerrini, Chiara Pantaleoni, Riccardo Masson
Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly. American journal of medical genetics. Part A 182 (11) (2020)
Sara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, Ilenia Maini, Marzia Pollazzon, Simonetta Rosato, Gabriele Trimarchi, Anna Lauriello, Maria Marinelli, Davide Nicoli, Chiara Baldo, Steven Laurie, Josue A Flores-Daboub, Aldesia Provenzano, Elena Andreucci, Francesca Peluso, Renata Rizzo, Helen Stewart, Katherine Lachlan, Allan Bayat, Manuela Napoli, Giorgia Carboni, Janice Baker, Alyssa Mendel, Gianluca Piatelli, Chiara Pantaleoni, Teresa Mattina, Paolo Prontera, Nancy J Mendelsohn, Sabrina Giglio, Orsetta Zuffardi, Livia Garavelli
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies. American journal of medical genetics. Part A 182 (12) (2020)