A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications

av Bonaglia, Maria Clara, Giorda, Roberto, Massagli, Angelo, Galluzzi, Rita, Ciccone, Roberto, Zuffardi, Orsetta
Publicerad 2009

XX males SRY negative: a confirmed cause of infertility

av Vetro, Annalisa, Ciccone, Roberto, Giorda, Roberto, Patricelli, Maria Grazia, Della Mina, Erika, Forlino, Antonella, Zuffardi, Orsetta
Publicerad 2011

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf‐Hirschhorn syndrome

av Concolino, Daniela, Rossi, Elena, Strisciuglio, Pietro, Iembo, Maria Antonietta, Giorda, Roberto, Ciccone, Roberto, Tenconi, Romano, Zuffardi, Orsetta
Publicerad 2007

MECP2 duplication phenotype in symptomatic females: report of three further cases

av Novara, Francesca, Simonati, Alessandro, Sicca, Federico, Battini, Roberta, Fiori, Simona, Contaldo, Annarita, Criscuolo, Lucia, Zuffardi, Orsetta, Ciccone, Roberto
Publicerad 2014

Highly Conserved Non-Coding Sequences and the 18q Critical Region for Short Stature: A Common Mechanism of Disease?

av Rizzolio, Flavio, Bione, Silvia, Sala, Cinzia, Tribioli, Carla, Ciccone, Roberto, Zuffardi, Orsetta, di Iorgi, Natascia, Maghnie, Mohamad, Toniolo, Daniela
Publicerad 2008

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood

av Novara, Francesca, Beri, Silvana, Bernardo, Maria Ester, Bellazzi, Riccardo, Malovini, Alberto, Ciccone, Roberto, Cometa, Angela Maria, Locatelli, Franco, Giorda, Roberto, Zuffardi, Orsetta
Publicerad 2009

The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma

av MARTINELLI, CAROLINA, GABRIELE, FABIO, MANAI, FEDERICO, CICCONE, ROBERTO, NOVARA, FRANCESCA, SAUTA, ELISABETTA, BELLAZZI, RICCARDO, PATANE, MONICA, MORONI, ISABELLA, PATERRA, ROSINA, COMINCINI, SERGIO
I publikationen Cancer Genomics Proteomics (2020)

Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

av Cisternino, Mariangela, Della Mina, Erika, Losa, Laura, Madè, Alexandra, Rossetti, Giulia, Bassi, Lorenzo Andrea, Pieri, Giovanni, Bayindir, Baran, Messa, Jole, Zuffardi, Orsetta, Ciccone, Roberto
Publicerad 2013

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

av Gervasini, Cristina, Mottadelli, Federica, Ciccone, Roberto, Castronovo, Paola, Milani, Donatella, Scarano, Gioacchino, Bedeschi, Maria Francesca, Belli, Serena, Pilotta, Alba, Selicorni, Angelo, Zuffardi, Orsetta, Larizza, Lidia
Publicerad 2010

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

av Gana, Simone, Veggiotti, Pierangelo, Sciacca, Giusy, Fedeli, Cristina, Bersano, Anna, Micieli, Giuseppe, Maghnie, Mohamad, Ciccone, Roberto, Rossi, Elena, Plunkett, Katie, Bi, Weimin, Sutton, Vernon R, Zuffardi, Orsetta
Publicerad 2012

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

av Clayton-Smith, Jill, Walters, Sarah, Hobson, Emma, Burkitt-Wright, Emma, Smith, Rupert, Toutain, Annick, Amiel, Jeanne, Lyonnet, Stanislas, Mansour, Sahar, Fitzpatrick, David, Ciccone, Roberto, Ricca, Ivana, Zuffardi, Orsetta, Donnai, Dian
Publicerad 2009

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

av Mina, Erika Della, Ciccone, Roberto, Brustia, Francesca, Bayindir, Baran, Limongelli, Ivan, Vetro, Annalisa, Iascone, Maria, Pezzoli, Laura, Bellazzi, Riccardo, Perotti, Gianfranco, De Giorgis, Valentina, Lunghi, Simona, Coppola, Giangennaro, Orcesi, Simona, Merli, Pietro, Savasta, Salvatore, Veggiotti, Pierangelo, Zuffardi, Orsetta
I publikationen Eur J Hum Genet (2015)

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

av Bovolenta, Matteo, Neri, Marcella, Fini, Sergio, Fabris, Marina, Trabanelli, Cecilia, Venturoli, Anna, Martoni, Elena, Bassi, Elena, Spitali, Pietro, Brioschi, Simona, Falzarano, Maria S, Rimessi, Paola, Ciccone, Roberto, Ashton, Emma, McCauley, Joanne, Yau, Shu, Abbs, Stephen, Muntoni, Francesco, Merlini, Luciano, Gualandi, Francesca, Ferlini, Alessandra
Publicerad 2008

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

av Brunetti-Pierri, Nicola, Paciorkowski, Alex R, Ciccone, Roberto, Mina, Erika Della, Bonaglia, Maria Clara, Borgatti, Renato, Schaaf, Christian P, Sutton, V Reid, Xia, Zhilian, Jelluma, Naftha, Ruivenkamp, Claudia, Bertrand, Mary, de Ravel, Thomy J L, Jayakar, Parul, Belli, Serena, Rocchetti, Katia, Pantaleoni, Chiara, D'Arrigo, Stefano, Hughes, Jeff, Cheung, Sau Wai, Zuffardi, Orsetta, Stankiewicz, Pawel
Publicerad 2011

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

av Della Mina, Erika, Borghesi, Alessandro, Zhou, Hao, Bougarn, Salim, Boughorbel, Sabri, Israel, Laura, Meloni, Ilaria, Chrabieh, Maya, Ling, Yun, Itan, Yuval, Renieri, Alessandra, Mazzucchelli, Iolanda, Basso, Sabrina, Pavone, Piero, Falsaperla, Raffaele, Ciccone, Roberto, Cerbo, Rosa Maria, Stronati, Mauro, Picard, Capucine, Zuffardi, Orsetta, Abel, Laurent, Chaussabel, Damien, Marr, Nico, Li, Xiaoxia, Casanova, Jean-Laurent, Puel, Anne
I publikationen Proc Natl Acad Sci U S A (2017)

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

av Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto, Broomer, Adam, Casuga, Iris, Wang, Yu, Xiao, Chunlin, Barbacioru, Catalin, Gimelli, Giorgio, Bernardina, Bernardo Dalla, Torniero, Claudia, Giorda, Roberto, Regan, Regina, Murday, Victoria, Mansour, Sahar, Fichera, Marco, Castiglia, Lucia, Failla, Pinella, Ventura, Mario, Jiang, Zhaoshi, Cooper, Gregory M, Knight, Samantha JL, Romano, Corrado, Zuffardi, Orsetta, Chen, Caifu, Schwartz, Charles E, Eichler, Evan E
Publicerad 2008

The phenotype of recurrent 10q22q23 deletions and duplications

av van Bon, Bregje W M, Balciuniene, Jorune, Fruhman, Gary, Nagamani, Sandesh Chakravarthy Sreenath, Broome, Diane L, Cameron, Elizabeth, Martinet, Danielle, Roulet, Eliane, Jacquemont, Sebastien, Beckmann, Jacques S, Irons, Mira, Potocki, Lorraine, Lee, Brendan, Cheung, Sau Wai, Patel, Ankita, Bellini, Melissa, Selicorni, Angelo, Ciccone, Roberto, Silengo, Margherita, Vetro, Annalisa, Knoers, Nine V, de Leeuw, Nicole, Pfundt, Rolph, Wolf, Barry, Jira, Petr, Aradhya, Swaroop, Stankiewicz, Pawel, Brunner, Han G, Zuffardi, Orsetta, Selleck, Scott B, Lupski, James R, de Vries, Bert B A
Publicerad 2011

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

av Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta
Publicerad 2011

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

av Lionel, Anath C., Tammimies, Kristiina, Vaags, Andrea K., Rosenfeld, Jill A., Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K., Pillalamarri, Vamsee K., Carter, Melissa T., Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W., Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C., Leather, Susan, Trounce, John, Melanie Bedford, H., Hatchwell, Eli, Eis, Peggy S., Yuen, Ryan K.C., Walker, Susan, Uddin, Mohammed, Geraghty, Michael T., Nikkel, Sarah M., Tomiak, Eva M., Fernandez, Bridget A., Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D., Schachar, Russell J., Roberts, Wendy, Paterson, Andrew D., So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Brian Lowry, R., Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R., Howe, Jennifer L., Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S., Wilks, Timothy M., Sorensen, Mark J., Bader, Patricia I., An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M., Monica, Matteo Della, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C., Talkowski, Michael E., Stavropoulos, Dimitri J., Marshall, Christian R., Scherer, Stephen W.
Publicerad 2014