Roberto Giorda

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 8

Top Topics

Intellectual Disability

Top Venues

Molecular genetics & genomic medicine

International journal of environmental research and public health

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

Publications

Alice Decio, Roberto Giorda, Elena Panzeri, Maria Teresa Bassi, Maria Grazia D'Angelo
Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Geoffrey Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Catala, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R Heckenlively, Samuel G Jacobson, Kaylie D Jones, Herbert Jägle, Andreas R Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell, André M Vieira Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S Plomp, Thomy J L de Ravel, Charlotte M Reiff, Agnes B Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E Cumhur Sener, Paul A Sieving, Franco Stanzial, Elias I Traboulsi, Stephen H Tsang, Balázs Varsanyi, Richard G Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Human mutation 43 (7) (2022)
Alessandro Orsini, Andrea Santangelo, Francesca Bravin, Alice Bonuccelli, Diego Giampietro Peroni, Roberta Battini, Thomas Foiadelli, Veronica Bertini, Angelo Valetto, Michele Iacomino, Vincenzo Nigro, Anna Laura Torella, Marcello Scala, Valeria Capra, Maria Stella Vari, Anna Fetta, Veronica Di Pisa, Francesca Montanari, Roberta Epifanio, Paolo Bonanni, Roberto Giorda, Francesca Felicia Operto, Grazia Maria Giovanna Pastorino, Esra Sarigecili, Esra Sardaroglu, Cetin Okuyaz, Sevgan Bozdogan, Luciana Musante, Flavio Faletra, Caterina Zanus, Alessandro Ferretti, Federico Vigevano, Pasquale Striano, Duccio Maria Cordelli
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients. Genes 13 (2) (2022)
Francesco Craig, Eleonora Mascheroni, Roberto Giorda, Maria Grazia Felline, Maria Grazia Bacco, Annalisa Castagna, Flaviana Tenuta, Marco Villa, Angela Costabile, Antonio Trabacca, Rosario Montirosso
Exploring the Contribution of Proximal Family Risk Factors on SLC6A4 DNA Methylation in Children with a History of Maltreatment: A Preliminary Study. International journal of environmental research and public health 18 (23) (2021)
Roberta Epifanio, Roberto Giorda, Maria Carolina Merlano, Nicoletta Zanotta, Romina Romaniello, Susan Marelli, Silvia Russo, Francesca Cogliati, Maria Teresa Bassi, Claudio Zucca
SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features. Brain sciences 12 (1) (2021)
Maria Nobile, Eleonora Maggioni, Maddalena Mauri, Marco Garzitto, Sara Piccin, Carolina Bonivento, Roberto Giorda, Rossano Girometti, Barbara Tomasino, Massimo Molteni, Franco Fabbro, Paolo Brambilla
Brain Anatomical Mediators of GRIN2B Gene Association with Attention/Hyperactivity Problems: An Integrated Genetic-Neuroimaging Study. Genes 12 (8) (2021)
Edoardo Errichiello, Roberto Giorda, Antonella Gambale, Achille Iolascon, Orsetta Zuffardi, Sabrina Rita Giglio
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism. Molecular genetics & genomic medicine 9 (1) (2020)
Sara Mascheretti, Valentina Riva, Bei Feng, Vittoria Trezzi, Chiara Andreola, Roberto Giorda, Marco Villa, Ginette Dionne, Simone Gori, Cecilia Marino, Andrea Facoetti
The Mediation Role of Dynamic Multisensory Processing Using Molecular Genetic Data in Dyslexia. Brain sciences 10 (12) (2020)