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

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Expanding the molecular landscape of childhood apraxia of speech: evidence from a single-center experience von Formicola, Daniela, Podda, Irina, Dirupo, Elia, Andreucci, Elena, Giglio, Sabrina, Cipriani, Paola, Bombonato, Clara, Santorelli, Filippo Maria, Chilosi, Anna

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

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Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders von Lazzeri, Elena, Ronconi, Elisa, Angelotti, Maria Lucia, Peired, Anna, Mazzinghi, Benedetta, Becherucci, Francesca, Conti, Sara, Sansavini, Giulia, Sisti, Alessandro, Ravaglia, Fiammetta, Lombardi, Duccio, Provenzano, Aldesia, Manonelles, Anna, Cruzado, Josep M, Giglio, Sabrina, Roperto, Rosa Maria, Materassi, Marco, Lasagni, Laura, Romagnani, Paola

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

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Antibody Deficiency in Patients with Biallelic KARS1 Mutations von Saettini, Francesco, Guerra, Fabiola, Fazio, Grazia, Bugarin, Cristina, McMillan, Hugh J, Ohtake, Akira, Ardissone, Anna, Itoh, Masayuki, Giglio, Sabrina, Cappuccio, Gerarda, Giardino, Giuliana, Romano, Roberta, Quadri, Manuel, Gasperini, Serena, Moratto, Daniele, Chiarini, Marco, Akira, Ishiguro, Fukuhara, Yasuyuki, Hayakawa, Itaru, Okazaki, Yasushi, Mauri, Mario, Piazza, Rocco, Cazzaniga, Gianni, Biondi, Andrea

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Small supernumerary marker chromosomes: A legacy of trisomy rescue? von Kurtas, Nehir Edibe, Xumerle, Luciano, Leonardelli, Lorena, Delledonne, Massimo, Brusco, Alfredo, Chrzanowska, Krystyna, Schinzel, Albert, Larizza, Daniela, Guerneri, Silvana, Natacci, Federica, Bonaglia, Maria Clara, Reho, Paolo, Manolakos, Emmanouil, Mattina, Teresa, Soli, Fiorenza, Provenzano, Aldesia, Al‐Rikabi, Ahmed H., Errichiello, Edoardo, Nazaryan‐Petersen, Lusine, Giglio, Sabrina, Tommerup, Niels, Liehr, Thomas, Zuffardi, Orsetta

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MICA and NKG2D gene polymorphisms influence graft survival, and response to therapy in kidney transplantation von Littera, Roberto, Mocci, Stefano, Argiolas, Davide, Littarru, Letizia, Lai, Sara, Melis, Maurizio, Sanna, Celeste, Mereu, Caterina, Lorrai, Michela, Mascia, Alessia, Angioi, Andrea, Mascia, Giacomo, Matta, Valeria, Lepori, Nicola, Floris, Matteo, Manieli, Cristina, Bianco, Paola, Onnis, Daniela, Rassu, Stefania, Deidda, Silvia, Carta, Mauro Giovanni, Giuressi, Erika, Perra, Andrea, Chessa, Luchino, Giglio, Sabrina, Pani, Antonello

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

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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 von Mocci, Stefano, Littera, Roberto, Chessa, Luchino, Campagna, Marcello, Melis, Maurizio, Ottelio, Carla Maria, Piras, Ignazio S, Lai, Sara, Firinu, Davide, Tranquilli, Stefania, Mascia, Alessia, Vacca, Monica, Schirru, Daniele, Lecca, Luigi Isaia, Rassu, Stefania, Cannas, Federica, Sanna, Celeste, Carta, Mauro Giovanni, Sedda, Francesca, Giuressi, Erika, Cipri, Selene, Miglianti, Michela, Perra, Andrea, Giglio, Sabrina

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Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 von Vetro, Annalisa, Dehghani, Mohammad Reza, Kraoua, Lilia, Giorda, Roberto, Beri, Silvana, Cardarelli, Laura, Merico, Maurizio, Manolakos, Emmanouil, Parada-Bustamante, Alexis, Castro, Andrea, Radi, Orietta, Camerino, Giovanna, Brusco, Alfredo, Sabaghian, Marjan, Sofocleous, Crystalena, Forzano, Francesca, Palumbo, Pietro, Palumbo, Orazio, Calvano, Savino, Zelante, Leopoldo, Grammatico, Paola, Giglio, Sabrina, Basly, Mohamed, Chaabouni, Myriam, Carella, Massimo, Russo, Gianni, Bonaglia, Maria Clara, Zuffardi, Orsetta

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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 von Lucenteforte, Ersilia, Vagnoli, Laura, Pugi, Alessandra, Crescioli, Giada, Lombardi, Niccolò, Bonaiuti, Roberto, Aricò, Maurizio, Giglio, Sabrina, Messeri, Andrea, Mugelli, Alessandro, Vannacci, Alfredo, Maggini, Valentina

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

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

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SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type von Errichiello, Edoardo, Mustafa, Noor, Vetro, Annalisa, Notarangelo, Lucia Dora, de Jonge, Hugo, Rinaldi, Berardo, Vergani, Debora, Giglio, Sabrina Rita, Morbini, Patrizia, Zuffardi, Orsetta

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Opioid response in paediatric cancer patients and the Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene: an Italian study on 87 cancer children and a sys... von Lucenteforte, Ersilia, Vannacci, Alfredo, Crescioli, Giada, Lombardi, Niccolò, Vagnoli, Laura, Giunti, Laura, Cetica, Valentina, Coniglio, Maria Luisa, Pugi, Alessandra, Bonaiuti, Roberto, Aricò, Maurizio, Giglio, Sabrina, Messeri, Andrea, Barale, Roberto, Giovannelli, Lisa, Mugelli, Alessandro, Maggini, Valentina

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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 von Palterer, Boaz, Salvati, Lorenzo, Capone, Manuela, Mecheri, Valentina, Maggi, Laura, Mazzoni, Alessio, Cosmi, Lorenzo, Volpi, Nila, Tiberi, Lucia, Provenzano, Aldesia, Giglio, Sabrina, Parronchi, Paola, Maggiore, Giandomenico, Gallo, Oreste, Bartoloni, Alessandro, Annunziato, Francesco, Zammarchi, Lorenzo, Liotta, Francesco

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

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

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

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