CUGC for lysinuric protein intolerance (LPI) von Martinelli, Diego, Schiff, Manuel, Semeraro, Michela, Agolini, Emanuele, Novelli, Antonio, Dionisi-Vici, Carlo

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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function von Zilmer, Monica, Edmondson, Andrew C., Khetarpa, Sumeet A., Alesi, Viola, Zaki, Maha S., Rostasy, Kevin, Madsen, Camilla G., Lepri, Francesca R., Sinibaldi, Lorenzo, Cusmai, Raffaella, Novelli, Antonio, Issa, Mahmoud Y., Fenger, Christina D., Abou Jamra, Rami, Reutter, Heiko, Briuglia, Silvana, Agolini, Emanuele, Hansen, Lars, Petaja-Repo, Ulla E., Hintze, John, Raymond, Kimiyo M., Liedtke, Kristen, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G., Vitali, Cecilia, O'Brien, W. Timothy, Gardella, Elena, Rubboli, Guido, Rader, Daniel J., Schjoldager, Katrine T., Moller, Rikke S.

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Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia von Sirmaci, Asli, Spiliopoulos, Michail, Brancati, Francesco, Powell, Eric, Duman, Duygu, Abrams, Alex, Bademci, Guney, Agolini, Emanuele, Guo, Shengru, Konuk, Berrin, Kavaz, Asli, Blanton, Susan, Digilio, Maria Christina, Dallapiccola, Bruno, Young, Juan, Zuchner, Stephan, Tekin, Mustafa

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Correspondence on “Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies” by Fountain et al von Capra, Anna Paola, Agolini, Emanuele, La Rosa, Maria Angela, Novelli, Antonio, Briuglia, Silvana

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Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation von Alteri, Claudia, Scutari, Rossana, Costabile, Valentino, Colagrossi, Luna, Yu La Rosa, Katia, Agolini, Emanuele, Lanari, Valentina, Chiurchiù, Sara, Romani, Lorenza, Markowich, Anna Hermine, Bernaschi, Paola, Russo, Cristina, Novelli, Antonio, Bernardi, Stefania, Campana, Andrea, Villani, Alberto, Perno, Carlo Federico

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The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect von Del Baldo, Giada, Mastronuzzi, Angela, Cipri, Selene, Agolini, Emanuele, Matraxia, Marta, Novelli, Antonio, Cacchione, Antonella, Serra, Annalisa, Carai, Andrea, Boccuto, Luigi, Colafati, Giovanna Stefania, Di Paolo, Pier Luigi, Miele, Evelina, Barresi, Sabina, Alaggio, Rita, Rossi, Sabrina, Giovannoni, Isabella

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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders von Duncan, Anna R., Polovitskaya, Maya M., Gaitán-Peñas, Héctor, Bertelli, Sara, VanNoy, Grace E., Grant, Patricia E., O’Donnell-Luria, Anne, Valivullah, Zaheer, Lovgren, Alysia Kern, England, Elaina M., Agolini, Emanuele, Madden, Jill A., Schmitz-Abe, Klaus, Kritzer, Amy, Hawley, Pamela, Novelli, Antonio, Alfieri, Paolo, Colafati, Giovanna Stefania, Wieczorek, Dagmar, Platzer, Konrad, Luppe, Johannes, Koch-Hogrebe, Margarete, Abou Jamra, Rami, Neira-Fresneda, Juanita, Lehman, Anna, Boerkoel, Cornelius F., Seath, Kimberly, Clarke, Lorne, van Ierland, Yvette, Argilli, Emanuela, Sherr, Elliott H., Maiorana, Andrea, Diel, Thilo, Hempel, Maja, Bierhals, Tatjana, Estévez, Raúl, Jentsch, Thomas J., Pusch, Michael, Agrawal, Pankaj B.

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DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk von Caroleo, Anna Maria, De Ioris, Maria Antonietta, Boccuto, Luigi, Alessi, Iside, Del Baldo, Giada, Cacchione, Antonella, Agolini, Emanuele, Rinelli, Martina, Serra, Annalisa, Carai, Andrea, Mastronuzzi, Angela

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COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap von Morlino, Silvia, Micale, Lucia, Ritelli, Marco, Rohrbach, Marianne, Zoppi, Nicoletta, Vandersteen, Anthony, Mackay, Sara, Agolini, Emanuele, Cocciadiferro, Dario, Sasaki, Erina, Madeo, Annalisa, Ferraris, Alessandro, Reardon, Willie, Di Rocco, Maja, Novelli, Antonio, Grammatico, Paola, Malfait, Fransiska, Mazza, Tommaso, Hakim, Alan, Giunta, Cecilia, Colombi, Marina, Castori, Marco

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Inhibition of HECT E3 ligases as potential therapy for COVID-19 von Novelli, Giuseppe, Liu, Jing, Biancolella, Michela, Alonzi, Tonino, Novelli, Antonio, Patten, J. J., Cocciadiferro, Dario, Agolini, Emanuele, Colona, Vito Luigi, Rizzacasa, Barbara, Giannini, Rosalinda, Bigio, Benedetta, Goletti, Delia, Capobianchi, Maria Rosaria, Grelli, Sandro, Mann, Justin, McKee, Trevor D., Cheng, Ke, Amanat, Fatima, Krammer, Florian, Guarracino, Andrea, Pepe, Gerardo, Tomino, Carlo, Tandjaoui-Lambiotte, Yacine, Uzunhan, Yurdagul, Tubiana, Sarah, Ghosn, Jade, Notarangelo, Luigi D., Su, Helen C., Abel, Laurent, Cobat, Aurélie, Elhanan, Gai, Grzymski, Joseph J., Latini, Andrea, Sidhu, Sachdev S., Jain, Suresh, Davey, Robert A., Casanova, Jean-Laurent, Wei, Wenyi, Pandolfi, Pier Paolo

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Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle von Fusco, Carmela, Nardella, Grazia, Morlino, Silvia, Micale, Lucia, Tragni, Vincenzo, Agolini, Emanuele, Novelli, Antonio, Massuras, Stefania, Giambra, Vincenzo, Pierri, Ciro Leonardo, Castori, Marco

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Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management von Del Baldo, Giada, Carta, Roberto, Alessi, Iside, Merli, Pietro, Agolini, Emanuele, Rinelli, Martina, Boccuto, Luigi, Milano, Giuseppe Maria, Serra, Annalisa, Carai, Andrea, Locatelli, Franco, Mastronuzzi, Angela

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Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A von Sippelli, Fabio, Briuglia, Silvana, Ferraloro, Chiara, Capra, Anna Paola, Agolini, Emanuele, Abbate, Tiziana, Pepe, Giorgia, Aversa, Tommaso, Wasniewska, Malgorzata, Corica, Domenico

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Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication von Pascolini, Giulia, Agolini, Emanuele, Fleischer, Nicole, Pierantoni, Rosella, Loddo, Sara, Novelli, Antonio, Bernardini, Laura, Majore, Silvia, Grammatico, Paola

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CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome von Martinelli, Diego, Fiermonte, Giuseppe, Haberle, Johannes, Boenzi, Sara, Goffredo, Bianca Maria, Travaglini, Lorena, Agolini, Emanuele, Porcelli, Vito, Dionisi-Vici, Carlo

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Targeted therapy for pediatric diffuse intrinsic pontine glioma: a single-center experience von Del Baldo, Giada, Carai, Andrea, Abbas, Rachid, Cacchione, Antonella, Vinci, Mara, Di Ruscio, Valentina, Colafati, Giovanna Stefania, Rossi, Sabrina, Diomedi Camassei, Francesca, Maestro, Nicola, Temelso, Sara, Pericoli, Giulia, De Billy, Emmanuel, Giovannoni, Isabella, Carboni, Alessia, Rinelli, Martina, Agolini, Emanuele, Mackay, Alan, Jones, Chris, Chiesa, Silvia, Balducci, Mario, Locatelli, Franco, Mastronuzzi, Angela

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Publisher Correction: Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation von Alteri, Claudia, Scutari, Rossana, Costabile, Valentino, Colagrossi, Luna, La Rosa, Katia Yu, Agolini, Emanuele, Lanari, Valentina, Chiurchiù, Sara, Romani, Lorenza, Markowich, Anna Hermine, Bernaschi, Paola, Russo, Cristina, Novelli, Antonio, Bernardi, Stefania, Campana, Andrea, Villani, Alberto, Perno, Carlo Federico

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Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study von Cocciadiferro, Dario, Mazza, Tommaso, Vecchio, Davide, Biagini, Tommaso, Petrizzelli, Francesco, Agolini, Emanuele, Villani, Andrea, Minervino, Daniele, Martinelli, Diego, Rizzo, Cristiano, Boenzi, Sara, Panfili, Filippo Maria, Buonuomo, Paola Sabrina, Macchiaiolo, Marina, Bartuli, Andrea, Novelli, Antonio

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Pathogenic Variants in GPC4 Cause Keipert Syndrome von Amor, David J., Stephenson, Sarah E.M., Mustapha, Mirna, Mensah, Martin A., Ockeloen, Charlotte W., Lee, Wei Shern, Tankard, Rick M., Phelan, Dean G., Shinawi, Marwan, de Brouwer, Arjan P.M., Pfundt, Rolph, Dowling, Cari, Toler, Tomi L., Sutton, V. Reid, Agolini, Emanuele, Rinelli, Martina, Capolino, Rossella, Martinelli, Diego, Zampino, Giuseppe, Dumić, Miroslav, Reardon, William, Shaw-Smith, Charles, Leventer, Richard J., Delatycki, Martin B., Kleefstra, Tjitske, Mundlos, Stefan, Mortier, Geert, Bahlo, Melanie, Allen, Nicola J., Lockhart, Paul J.

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Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review von Pelizzo, Gloria, Collura, Mirella, Puglisi, Aurora, Pappalardo, Maria Pia, Agolini, Emanuele, Novelli, Antonio, Piccione, Maria, Cacace, Caterina, Bussani, Rossana, Corsello, Giovanni, Calcaterra, Valeria

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