SLMSuite: a suite of algorithms for segmenting genomic profiles by Valerio Orlandini, Aldesia Provenzano, Sabrina Giglio, Alberto Magi

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PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib by Angelica Pagliazzi, Teresa Oranges, Giovanna Traficante, Chiara Trapani, Flavio Facchini, Alessandra Martin, Alessandro Semeraro, Anna Perrone, Cesare Filippeschi, Sabrina Giglio, Sabrina Giglio

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RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism by Edoardo Errichiello, Roberto Giorda, Antonella Gambale, Achille Iolascon, Orsetta Zuffardi, Sabrina Giglio

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A Protective HLA Extended Haplotype Outweighs the Major COVID-19 Risk Factor Inherited From Neanderthals in the Sardinian Population by Stefano Mocci, Roberto Littera, Roberto Littera, Stefania Tranquilli, Aldesia Provenzano, Alessia Mascia, Federica Cannas, Sara Lai, Erika Giuressi, Luchino Chessa, Luchino Chessa, Luchino Chessa, Goffredo Angioni, Marcello Campagna, Davide Firinu, Maria Del Zompo, Giorgio La Nasa, Andrea Perra, Andrea Perra, Sabrina Giglio, Sabrina Giglio, Sabrina Giglio

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Genetic counseling during COVID‐19 pandemic: Tuscany experience by Angelica Pagliazzi, Giorgia Mancano, Giulia Forzano, Fabiana diGiovanni, Giulia Gori, Giovanna Traficante, Achille Iolascon, Sabrina Giglio

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Non-Invasive Detection of a De Novo Frameshift Variant of <i>STAG2</i> in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females by Aldesia Provenzano, Andrea La Barbera, Francesco Lai, Andrea Perra, Antonio Farina, Ettore Cariati, Orsetta Zuffardi, Sabrina Giglio

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Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation by Evelise Brizola, Maria Gnoli, Morena Tremosini, Paolo Nucci, Sara Bargiacchi, Andrea La Barbera, Sabrina Giglio, Luca Sangiorgi

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The double-sided of human leukocyte antigen-G molecules in type 1 autoimmune hepatitis by Roberto Littera, Roberto Littera, Andrea Perra, Andrea Perra, Michela Miglianti, Ignazio S. Piras, Stefano Mocci, Sara Lai, Maurizio Melis, Teresa Zolfino, Cinzia Balestrieri, Maria Conti, Giancarlo Serra, Francesco Figorilli, Davide Firinu, Simona Onali, Laura Matta, Carmen Porcu, Francesco Pes, Daniela Fanni, Cristina Manieli, Monica Vacca, Roberto Cusano, Marcello Trucas, Selene Cipri, Stefania Tranquilli, Stefania Rassu, Federica Cannas, Mauro Giovanni Carta, Marta Anna Kowalik, Erika Giuressi, Gavino Faa, Luchino Chessa, Luchino Chessa, Luchino Chessa, Sabrina Giglio, Sabrina Giglio, Sabrina Giglio, Sabrina Giglio

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Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation by Barbara Piccini, Caterina Coviello, Livia Drovandi, Artuso Rosangela, Francesca Monzali, Emilio Casalini, Sabrina Giglio, Sonia Toni, Carlo Dani

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A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G by Stefano Mocci, Stefano Mocci, Roberto Littera, Roberto Littera, Luchino Chessa, Luchino Chessa, Luchino Chessa, Marcello Campagna, Maurizio Melis, Carla Maria Ottelio, Ignazio S. Piras, Sara Lai, Davide Firinu, Stefania Tranquilli, Alessia Mascia, Monica Vacca, Daniele Schirru, Luigi Isaia Lecca, Stefania Rassu, Federica Cannas, Celeste Sanna, Mauro Giovanni Carta, Francesca Sedda, Erika Giuressi, Selene Cipri, Michela Miglianti, Andrea Perra, Andrea Perra, Sabrina Giglio, Sabrina Giglio, Sabrina Giglio

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Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report by Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio

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Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2 by Stefano Nistri, Rosina De Cario, Elena Sticchi, Gaia Spaziani, Matteo Della Monica, Sabrina Giglio, Silvia Favilli, Betti Giusti, Pierluigi Stefano, Guglielmina Pepe

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A Novel Splicing Variant of <i>COL2A1</i> in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions by Valentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Giglio, Rodolfo Iuliano

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A systematic review of the risk factors for clinical response to opioids for all-age patients with cancer-related pain and presentation of the paediatric STOP pain study by Ersilia Lucenteforte, Laura Vagnoli, Alessandra Pugi, Giada Crescioli, Niccolò Lombardi, Roberto Bonaiuti, Maurizio Aricò, Sabrina Giglio, Andrea Messeri, Alessandro Mugelli, Alfredo Vannacci, Valentina Maggini

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STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways by Giada Crescioli, Niccolò Lombardi, Laura Vagnoli, Alessandra Bettiol, Laura Giunti, Valentina Cetica, Maria Luisa Coniglio, Aldesia Provenzano, Sabrina Giglio, Roberto Bonaiuti, Alessandro Mugelli, Maurizio Aricò, Andrea Messeri, Alfredo Vannacci, Valentina Maggini

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De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s. by Elena Rossi, Roberto Giorda, Maria Clara Bonaglia, Stefania Di Candia, Elena Grechi, Adriana Franzese, Fiorenza Soli, Francesca Rivieri, Maria Grazia Patricelli, Donatella Saccilotto, Aldo Bonfante, Sabrina Giglio, Silvana Beri, Mariano Rocchi, Orsetta Zuffardi

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Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature by Boaz Palterer, Boaz Palterer, Lorenzo Salvati, Manuela Capone, Valentina Mecheri, Laura Maggi, Alessio Mazzoni, Lorenzo Cosmi, Lorenzo Cosmi, Nila Volpi, Lucia Tiberi, Lucia Tiberi, Aldesia Provenzano, Sabrina Giglio, Paola Parronchi, Paola Parronchi, Giandomenico Maggiore, Oreste Gallo, Alessandro Bartoloni, Francesco Annunziato, Francesco Annunziato, Lorenzo Zammarchi, Lorenzo Zammarchi, Francesco Liotta, Francesco Liotta

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Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes by Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos

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Natural killer-cell immunoglobulin-like receptors trigger differences in immune response to SARS-CoV-2 infection by Roberto Littera, Luchino Chessa, Silvia Deidda, Goffredo Angioni, Marcello Campagna, Sara Lai, Maurizio Melis, Selene Cipri, Davide Firinu, Simonetta Santus, Alberto Lai, Rita Porcella, Stefania Rassu, Federico Meloni, Daniele Schirru, William Cordeddu, Marta Anna Kowalik, Paola Ragatzu, Monica Vacca, Federica Cannas, Francesco Alba, Mauro Giovanni Carta, Stefano Del Giacco, Angelo Restivo, Simona Deidda, Antonella Palimodde, Paola Congera, Roberto Perra, Germano Orrù, Francesco Pes, Martina Loi, Claudia Murru, Enrico Urru, Simona Onali, Ferdinando Coghe, Sabrina Giglio, Andrea Perra

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Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. by Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi

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