Co-creating a sustainable EOSC: Outcomes from the EOSC Consultation Day von Ferguson, Nicholas, Garavelli, Sara

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Procuring Cloud Services Today von Garavelli, Sara

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EOSC National Structures: an overview of the national EOSC coordination and engagement mechanisms in Europe von Garavelli, Sara, Märkälä, Anu, Liinamaa, Iiris

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Bluebridge Survey Respondent Database von Garavelli Sara, Turpault Anais

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Evaluation of the EOSC-hub community (February 2020) von Sipos, Gergely, Garavelli, Sara, Testi, Debora, Bayındır, Hakan

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EOSC Coordination Day Report von Lazzeri, Emma, Castelli, Donatella, Marino, Leonardo, Garavelli, Sara, Van Wezel, Jos, Ferguson, Nicholas

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Cloud Services Procurement Roadmap For Public Research Organisations von Garavelli, Sara, Amsaghrou, Rachida, Jones, Bob

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Type 2 Diabetes: How Much of an Autoimmune Disease? von de Candia, Paola, Prattichizzo, Francesco, Garavelli, Silvia, De Rosa, Veronica, Galgani, Mario, Di Rella, Francesca, Spagnuolo, Maria Immacolata, Colamatteo, Alessandra, Fusco, Clorinda, Micillo, Teresa, Bruzzaniti, Sara, Ceriello, Antonio, Puca, Annibale A, Matarese, Giuseppe

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Blood Co-Circulating Extracellular microRNAs and Immune Cell Subsets Associate with Type 1 Diabetes Severity von Garavelli, Silvia, Bruzzaniti, Sara, Tagliabue, Elena, Prattichizzo, Francesco, Di Silvestre, Dario, Perna, Francesco, La Sala, Lucia, Ceriello, Antonio, Mozzillo, Enza, Fattorusso, Valentina, Mauri, Pierluigi, Puca, Annibale A, Franzese, Adriana, Matarese, Giuseppe, Galgani, Mario, de Candia, Paola

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Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes von Provenzano, Aldesia, La Barbera, Andrea, Scagnet, Mirko, Pagliazzi, Angelica, Traficante, Giovanna, Pantaleo, Marilena, Tiberi, Lucia, Vergani, Debora, Kurtas, Nehir Edibe, Guarducci, Silvia, Bargiacchi, Sara, Forzano, Giulia, Artuso, Rosangela, Palazzo, Viviana, Kura, Ada, Giordano, Flavio, di Feo, Daniele, Mortilla, Marzia, De Filippi, Claudio, Mattei, Gianluca, Garavelli, Livia, Giusti, Betti, Genitori, Lorenzo, Zuffardi, Orsetta, Giglio, Sabrina

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Metabolism and Autoimmune Responses: The microRNA Connection von Colamatteo, Alessandra, Micillo, Teresa, Bruzzaniti, Sara, Fusco, Clorinda, Garavelli, Silvia, De Rosa, Veronica, Galgani, Mario, Spagnuolo, Maria Immacolata, Di Rella, Francesca, Puca, Annibale A, de Candia, Paola, Matarese, Giuseppe

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NANS-mediated synthesis of sialic acid is required for brain and skeletal development von van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine, Donnai, Dian, Cormier-Daire, Valérie, Heron, Delphine, Nishimura, Gen, Uchikawa, Shinichi, Campos-Xavier, Belinda, Rossi, Antonio, Hennet, Thierry, Brand-Arzamendi, Koroboshka, Rozmus, Jacob, Harshman, Keith, Stevenson, Brian J, Girardi, Enrico, Superti-Furga, Giulio, Dewan, Tammie, Collingridge, Alissa, Halparin, Jessie, Ross, Colin J, Van Allen, Margot I, Rossi, Andrea, Engelke, Udo F, Kluijtmans, Leo A J, van der Heeft, Ed, Renkema, Herma, de Brouwer, Arjan, Huijben, Karin, Zijlstra, Fokje, Heise, Torben, Boltje, Thomas, Wasserman, Wyeth W, Rivolta, Carlo, Unger, Sheila, Lefeber, Dirk J, Wevers, Ron A, Superti-Furga, Andrea

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The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis von Palazzo, Viviana, Provenzano, Aldesia, Becherucci, Francesca, Sansavini, Giulia, Mazzinghi, Benedetta, Orlandini, Valerio, Giunti, Laura, Roperto, Rosa Maria, Pantaleo, Marilena, Artuso, Rosangela, Andreucci, Elena, Bargiacchi, Sara, Traficante, Giovanna, Stagi, Stefano, Murer, Luisa, Benetti, Elisa, Emma, Francesco, Giordano, Mario, Rivieri, Francesca, Colussi, Giacomo, Penco, Silvana, Manfredini, Emanuela, Caruso, Maria Rosa, Garavelli, Livia, Andrulli, Simeone, Vergine, Gianluca, Miglietti, Nunzia, Mancini, Elena, Malaventura, Cristina, Percesepe, Antonio, Grosso, Enrico, Materassi, Marco, Romagnani, Paola, Giglio, Sabrina

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The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population von Spedicati, Beatrice, Santin, Aurora, Nardone, Giuseppe Giovanni, Rubinato, Elisa, Lenarduzzi, Stefania, Graziano, Claudio, Garavelli, Livia, Miccoli, Sara, Bigoni, Stefania, Morgan, Anna, Girotto, Giorgia

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The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects von Tran, Christel, Turolla, Licia, Ballhausen, Diana, Buros, Sandrine Cornaz, Teav, Tony, Gallart-Ayala, Hector, Ivanisevic, Julijana, Faouzi, Mohamed, Lefeber, Dirk J., Ivanovski, Ivan, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Garavelli, Livia, Superti-Furga, Andrea

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Plasma circulating miR-23~27~24 clusters correlate with the immunometabolic derangement and predict C-peptide loss in children with type 1 diabetes von Garavelli, Silvia, Bruzzaniti, Sara, Tagliabue, Elena, Di Silvestre, Dario, Prattichizzo, Francesco, Mozzillo, Enza, Fattorusso, Valentina, La Sala, Lucia, Ceriello, Antonio, Puca, Annibale A., Mauri, Pierluigi, Strollo, Rocky, Marigliano, Marco, Maffeis, Claudio, Petrelli, Alessandra, Bosi, Emanuele, Franzese, Adriana, Galgani, Mario, Matarese, Giuseppe, de Candia, Paola

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Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)- B4GALT7 and Spondylodysplastic-EDS- B3GALT6 von Caraffi, Stefano Giuseppe, Maini, Ilenia, Ivanovski, Ivan, Pollazzon, Marzia, Giangiobbe, Sara, Valli, Maurizia, Rossi, Antonio, Sassi, Silvia, Faccioli, Silvia, Rocco, Maja Di, Magnani, Cinzia, Campos-Xavier, Belinda, Unger, Sheila, Superti-Furga, Andrea, Garavelli, Livia

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A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia von Cisarova, Katarina, Garavelli, Livia, Caraffi, Stefano Giuseppe, Peluso, Francesca, Valeri, Lara, Gargano, Giancarlo, Gavioli, Sara, Trimarchi, Gabriele, Neri, Alberto, Campos‐Xavier, Belinda, Superti‐Furga, Andrea

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Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic study von Di Pisa, Veronica, Provini, Federica, Ubertiello, Sara, Bonetti, Silvia, Ricci, Emilia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Giordano, Lucio, Accorsi, Patrizia, Savasta, Salvatore, Raviglione, Federico, Boni, Antonella, Grioni, Daniele, Graziano, Claudio, Garavelli, Livia, Cordelli, Duccio Maria

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Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies von Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Ivanovski, Ivan, Maini, Ilenia, Pollazzon, Marzia, Rosato, Simonetta, Trimarchi, Gabriele, Lauriello, Anna, Marinelli, Maria, Nicoli, Davide, Baldo, Chiara, Laurie, Steven, Flores‐Daboub, Josue, Provenzano, Aldesia, Andreucci, Elena, Peluso, Francesca, Rizzo, Renata, Stewart, Helen, Lachlan, Katherine, Bayat, Allan, Napoli, Manuela, Carboni, Giorgia, Baker, Janice, Mendel, Alyssa, Piatelli, Gianluca, Pantaleoni, Chiara, Mattina, Teresa, Prontera, Paolo, Mendelsohn, Nancy J., Giglio, Sabrina, Zuffardi, Orsetta, Garavelli, Livia

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