Claudia Ciaccio

Loop profile Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 16

Top Venues

American journal of medical genetics. Part A

Neurology. Genetics

Brain sciences

Cerebellum (London, England)

Fondazione IRCCS Istituto Neurologico Carlo Besta

Fondazione IRCCS Istituto Neurologico Carlo Besta (PHD)

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

Affiliation History

Fondazione IRCCS Istituto Neurologico Carlo Besta

Italy

MD :: Developmental Neurology Unit

Education History

Fondazione IRCCS Istituto Neurologico Carlo Besta Jan 10 2017

Italy

PHD :: Developmental Neurology Unit

Publications

Camilla Sarli, Liselot van der Laan, Jack Reilly, Slavica Trajkova, Diana Carli, Alfredo Brusco, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Matthew L Tedder, Cindy D Skinner, Mariëlle Alders, Peter Henneman, Raoul C M Hennekam, Claudia Ciaccio, Stefano D'Arrigo, Antonio Vitobello, Laurence Olivier-Faivre, Sacha Weber, Aline Vincent-Devulder, Laurence Perrin, Alexia Bourgois, Toshiyuki Yamamoto, Kay Metcalfe, Marcella Zollino, Usha Kini, Daniela Oliveira, Sergio B Sousa, Denise Williams, Gerarda Cappuccio, Bekim Sadikovic, Nicola Brunetti-Pierri
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
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)
Patricia Pascual, Jair Antonio Tenorio Castaño, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, Maria Palomares-Bralo, Emi Rikeros, Feliciano J Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D'Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The Sogri Consortium, Julián Nevado, Pablo Lapunzina
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review. Genes 14 (9) (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)
Silvia Maria Marchese, Roberto Esposti, Veronica Farinelli, Claudia Ciaccio, Arianna De Laurentiis, Stefano D'Arrigo, Paolo Cavallari
Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper Arm. Brain sciences 13 (4) (2023)
Silvia Maria Marchese, Roberto Esposti, Veronica Farinelli, Claudia Ciaccio, Arianna De Laurentiis, Stefano D'Arrigo, Paolo Cavallari
Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper Arm. Brain sciences 13 (4) (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, Emanuela Leonardi, Roberta Polli, Alessandra Murgia, Stefano D'Arrigo, Elisa Granocchio, Luisa Chiapparini, Chiara Pantaleoni, Silvia Esposito
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia. Neuropediatrics 52 (6) (2021)
Claudia Ciaccio, Chiara Pantaleoni, Sara Bulgheroni, Francesca Sciacca, Stefano D'Arrigo
Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present. Cerebellum (London, England) 19 (5) (2021)
Stefano D'Arrigo, Marco Moscatelli, Claudia Ciaccio, Chiara Pantaleoni, Raffaele Castello, Luisa Chiapparini, null null
Abnormal cerebellar foliation in EBF3 mutation. Neurology 94 (21) (2020)
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, Raffaele Castello, Silvia Esposito, Michele Pinelli, Vincenzo Nigro, Giorgio Casari, Luisa Chiapparini, Chiara Pantaleoni, null null, Stefano D'Arrigo
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23). Cerebellum (London, England) 18 (5) (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)

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Publication Activity (10 Years)

Top Topics

Top Venues

Claudia Ciaccio