New Insights in 9q21.13 Microdeletion Syndrome: Genotype–Phenotype Correlation of 28 Patients by Alessandro De Falco, Achille Iolascon, Flora Ascione, Carmelo Piscopo

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Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of <i>CDKN1C</i> by Angela Sparago, Flavia Cerrato, Laura Pignata, Francisco Cammarata-Scalisi, Livia Garavelli, Carmelo Piscopo, Alessandra Vancini, Andrea Riccio

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An integration into the diagnostic workflow in a pediatric patient suspected of having Marfan syndrome by Maria Oro, Marina Tarsitano, Maria Rivieccio, Carmelo Piscopo, Maria Teresa Petti, Nenad Bukvic, Matteo Della Monica, Massimiliano Chetta

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First Case of a Dominant De Novo <i>SEC23A</i> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review by Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo

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Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype by Maria Luce Genovesi, Barbara Torres, Marina Goldoni, Eliana Salvo, Claudia Cesario, Massimo Majolo, Tommaso Mazza, Carmelo Piscopo, Laura Bernardini

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De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review by Maria Anna Siano, Ilaria De Maggio, Roberta Petillo, Dario Cocciadiferro, Emanuele Agolini, Massimo Majolo, Antonio Novelli, Matteo Della Monica, Carmelo Piscopo

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A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis by Alessandro De Falco, Daniele De Brasi, Matteo Della Monica, Claudia Cesario, Stefano Petrocchi, Antonio Novelli, Giuseppe D’Alterio, Achille Iolascon, Mario Capasso, Carmelo Piscopo

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Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing by Luigia De Falco, Carmelo Piscopo, Rossana D’Angelo, Eloisa Evangelista, Teresa Suero, Roberto Sirica, Raffaella Ruggiero, Giovanni Savarese, Antonella Di Carlo, Giulia Furino, Ciro Scarpato, Antonio Fico

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Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review by Aurora Arghir, Sorina Mihaela Papuc, Andreea‐Cristina Tutulan‐Cunita, Alina Erbescu, Sara Loddo, Silvia Genovese, Laura Ciocca, Marina Goldoni, Carmelo Piscopo, Laura Bernardini, Antonio Novelli, Magdalena Budisteanu

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Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 by Immacolata Andolfo, Roberta Russo, Vito Alessandro Lasorsa, Sueva Cantalupo, Barbara Eleni Rosato, Ferdinando Bonfiglio, Giulia Frisso, Pasquale Abete, Gian Marco Cassese, Giuseppe Servillo, Gabriella Esposito, Ivan Gentile, Carmelo Piscopo, Romolo Villani, Giuseppe Fiorentino, Pellegrino Cerino, Carlo Buonerba, Biancamaria Pierri, Massimo Zollo, Achille Iolascon, Mario Capasso

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The <i>TNFRSF13C</i> H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy by Roberta Russo, Immacolata Andolfo, Vito Alessandro Lasorsa, Sueva Cantalupo, Roberta Marra, Giulia Frisso, Pasquale Abete, Gian Marco Cassese, Giuseppe Servillo, Gabriella Esposito, Ivan Gentile, Carmelo Piscopo, Matteo Della Monica, Giuseppe Fiorentino, Giuseppe Russo, Pellegrino Cerino, Carlo Buonerba, Biancamaria Pierri, Massimo Zollo, Achille Iolascon, Mario Capasso

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Regulatory Noncoding and Predicted Pathogenic Coding Variants of <i>CCR5</i> Predispose to Severe COVID-19 by Sueva Cantalupo, Vito Alessandro Lasorsa, Roberta Russo, Immacolata Andolfo, Giuseppe D’Alterio, Barbara Eleni Rosato, Giulia Frisso, Pasquale Abete, Gian Marco Cassese, Giuseppe Servillo, Ivan Gentile, Carmelo Piscopo, Matteo Della Monica, Giuseppe Fiorentino, Giuseppe Russo, Pellegrino Cerino, Carlo Buonerba, Biancamaria Pierri, Massimo Zollo, Achille Iolascon, Mario Capasso

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Carriers of <i>ADAMTS13</i> Rare Variants Are at High Risk of Life-Threatening COVID-19 by Kristina Zguro, Margherita Baldassarri, Francesca Fava, Giada Beligni, Sergio Daga, Roberto Leoncini, Lucrezia Galasso, Michele Cirianni, Stefano Rusconi, Matteo Siano, Daniela Francisci, Elisabetta Schiaroli, Sauro Luchi, Giovanna Morelli, Enrico Martinelli, Massimo Girardis, Stefano Busani, Saverio Giuseppe Parisi, Sandro Panese, Carmelo Piscopo, Mario Capasso, Danilo Tacconi, Chiara Spertilli Raffaelli, Annarita Giliberti, Giulia Gori, Peter D. Katsikis, Maria Lorubbio, Paola Calzoni, Agostino Ognibene, Monica Bocchia, Monica Tozzi, Alessandro Bucalossi, Giuseppe Marotta, Simone Furini, GEN-COVID Multicenter Study, Alessandra Renieri, Chiara Fallerini

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