Pubblicazioni

Cost-effectiveness analysis of late prophylaxis vs. on-demand treatment for severe haemophilia A in Italy

2017 - HAEMOPHILIA

Coppola, A.; D'Ausilio, Alessandro; Aiello, A.; Amoresano, S.; Toumi, M.; Mathew, P.; Tagliaferri, A; Feola, G.; Molinari, A. C.; Santoro, Cristina; Rivolta, G. F.; Cultrera, D. B.; Gagliano, F.; Zanon, E.; Mancuso, M. E.; ValdrÃ¨, L.; Mameli, L.; Banov, L.; Di Minno, G.; Quintavalle, G.; Mazzucconi, Maria Gabriella; Negri, N.; Santagostino, E.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

2017 - AMERICAN JOURNAL OF HUMAN GENETICS

Hamdan, Fadi F.; Myers, Candace T.; Cossette, Patrick; Lemay, Philippe; Spiegelman, Dan; Laporte, Alexandre Dionne; Nassif, Christina; Diallo, Ousmane; Monlong, Jean; Cadieux-Dion, Maxime; Dobrzeniecka, Sylvia; Meloche, Caroline; Retterer, Kyle; Cho, Megan T.; Rosenfeld, Jill A.; Bi, Weimin; Massicotte, Christine; Miguet, Marguerite; Brunga, Ledia; Regan, Brigid M.; Mo, Kelly; Tam, Cory; Schneider, Amy; Hollingsworth, Georgie; FitzPatrick, David R.; Donaldson, Alan; Canham, Natalie; Blair, Edward; Kerr, Bronwyn; Fry, Andrew E.; Thomas, Rhys H.; Shelagh, Joss; Hurst, Jane A.; Brittain, Helen; Blyth, Moira; Lebel, Robert Roger; Gerkes, Erica H.; Davis-Keppen, Laura; Stein, Quinn; Chung, Wendy K.; Dorison, Sara J.; Benke, Paul J.; Fassi, Emily; Corsten-Janssen, Nicole; Kamsteeg, Erik-Jan; Mau-Them, Frederic T.; Bruel, Ange-Line; Verloes, Alain; Ãâ¢unap, Katrin; Wojcik, Monica H.; Albert, Dara V. F; Venkateswaran, Sunita; Ware, Tyson; Jones, Dean; Liu, Yu-Chi; Mohammad, Shekeeb S.; Bizargity, Peyman; Bacino, Carlos A.; Leuzzi, Vincenzo; Martinelli, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Blumkin, Lubov; Wierenga, Klaas J.; Purcarin, Gabriela; O'Byrne, James J.; Stockler, Sylvia; Lehman, Anna; Keren, Boris; Nougues, Marie-Christine; Mignot, Cyril; Auvin, StÃÂ©phane; Nava, Caroline; Hiatt, Susan M.; Bebin, Martina; Shao, Yunru; Scaglia, Fernando; Lalani, Seema R.; Frye, Richard E.; Jarjour, Imad T.; Jacques, StÃÂ©phanie; Boucher, Renee-Myriam; Riou, Emilie; Srour, Myriam; Carmant, Lionel; Lortie, Anne; Major, Philippe; Diadori, Paola; Dubeau, FranÃÂ§ois; D'Anjou, Guy; Bourque, Guillaume; Berkovic, Samuel F.; Sadleir, Lynette G.; Campeau, Philippe M.; Kibar, Zoha; LafreniÃre, Ronald G.; Girard, Simon L.; Mercimek-Mahmutoglu, Saadet; Boelman, Cyrus; Rouleau, Guy A.; Scheffer, Ingrid E.; Mefford, Heather C.; Andrade, Danielle M.; Rossignol, Elsa; Minassian, Berge A.; Michaud, Jacques L.

Ocular alterations in a rare case of segmental neurofibromatosis type 1 with a non-classified mutational variant of the NF-1 gene

2016 - OPHTHALMIC GENETICS

Abdolrahimzadeh, Solmaz; Piraino, Domenica Carmen; Plateroti, Rocco; Scuderi, Gianluca; Recupero, Santi Maria

The Greeks in the West. Genetic signatures of the Hellenic colonisation in southern Italy and Sicily

2016 - EUROPEAN JOURNAL OF HUMAN GENETICS

Tofanelli, Sergio; Brisighelli, Francesca; Anagnostou, Paolo; Busby, George B. J.; Ferri, Gianmarco; Thomas, Mark G.; Taglioli, Luca; Rudan, Igor; Zemunik, Tatijana; Hayward, Caroline; Bolnick, Deborah; Romano, Valentino; Cali, Francesco; Luiselli, Donata; Shepherd, Gillian B.; Tusa, Sebastiano; Facella, Antonino; Capelli, Cristian

Shared language, diverging genetic histories. High-resolution analysis of Y-chromosome variability in Calabrian and Sicilian Arbereshe

2016 - EUROPEAN JOURNAL OF HUMAN GENETICS

Sarno, Stefania; Tofanelli, Sergio; De Fanti, Sara; Quagliariello, Andrea; Bortolini, Eugenio; Ferri, Gianmarco; Anagnostou, Paolo; Brisighelli, Francesca; Capelli, Cristian; Tagarelli, Giuseppe; Sineo, Luca; Luiselli, Donata; Boattini, Alessio; Pettener, Davide

Autistic traits moderate the impact of reward learning on social behaviour

2016 - AUTISM RESEARCH

Panasiti, MARIA SERENA; Puzzo, Ignazio; Chakrabarti, Bhismadev

Sirtuin functions and modulation: from chemistry to the clinic

2016 - CLINICAL EPIGENETICS

Carafa, Vincenzo; Rotili, Dante; Forgione, Mariantonietta; Cuomo, Francesca; Serretiello, Enrica; Hailu, GEBREMEDHIN SOLOMON; Jarho, Elina; Lahtela Kakkonen, Maija; Mai, Antonello; Altucci, Lucia

Comparative Genomic Analyses Provide New Insights into the Evolutionary Dynamics of Heterochromatin in Drosophila

2016 - PLOS GENETICS

Caizzi, Ruggiero; Moschetti, Roberta; Piacentini, Lucia; Fanti, Laura; Marsano, RenÃ¨ Massimiliano; Dimitri, Patrizio

Electronic witness system in IVFâpatients perspective

2016 - JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Forte, Marina; Faustini, Federica; Maggiulli, Roberta; Scarica, Catello; Romano, Stefania; Ottolini, Christian; Farcomeni, Alessio; Palagiano, Antonio; Capalbo, Antonio; Ubaldi, Filippo Maria; Rienzi, Laura

Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations

2016 - GENETICS IN MEDICINE

D'Andrea, Elvira; Marzuillo, Carolina; DE VITO, Corrado; DI MARCO, Marco; Pitini, Erica; Vacchio, Maria Rosaria; Villari, Paolo

A surge of late-occurring meiotic double-strand breaks rescues synapsis abnormalities in spermatocytes of mice with hypomorphic expression of SPO11

2016 - CHROMOSOMA

Faieta, Monica; Di Cecca, Stefano; DE ROOIJ, DIRK GIJSBERT; Luchetti, Andrea; Murdocca, Michela; DI GIACOMO, Monica; DI SIENA, Sara; Pellegrini, Manuela; Rossi, Pellegrino; Barchi, Marco

Congenital heart defects in Noonan syndrome and RIT1 mutation

2016 - GENETICS IN MEDICINE

Calcagni, Giulio; Baban, Anwar; Lepri, Francesca Romana; MARINO TAUSSIG DE BODONIA, Bruno; Tartaglia, Marco; Digilio, Maria Cristina

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Radio, FRANCESCA CLEMENTINA; Digilio, Maria Cristina; Capolino, Rossella; Dentici, MARIA LISA; Unolt, Marta; Alesi, Viola; Novelli, Antonio; MARINO TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno

Transposons passively and actively contribute to evolution of the two-speed genome of a fungal pathogen

2016 - GENOME RESEARCH

Faino, Luigi; Seidl, Michael F.; Shi-Kunne, Xiaoqian; Pauper, Marc; Van Den Berg, Grardy C. M.; Wittenberg, Alexander H. J.; Thomma, Bart P. H. J.

Test pricing and reimbursement in genomic medicine: towards a general strategy

2016 - PUBLIC HEALTH GENOMICS

Vozikis, A; Cooper, Dn; Mitropoulou, C; Kambouris, Me; Brand, A; Dolzan, V; Fortina, P; Innocenti, F; Lee, Mt; Leyens, L; Macek, M Jr; Al-Mulla, F; Prainsack, B; Squassina, A; Taruscio, D; van Schaik, Rh; Vayena, E; Williams, Ms; Patrinos, Gp

Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice

2015 - HUMAN MOLECULAR GENETICS

Pelosi, Laura; Berardinelli, Maria Grazia; Forcina, Laura; Spelta, Elisa; Rizzuto, Emanuele; Nicoletti, Carmine; Camilli, Carlotta; Testa, Erika; Catizone, Angela; De Benedetti, Fabrizio; MusarÃ², Antonio

Ultrastructural markers of quality are impaired in human metaphase II aged oocytes: a comparison between reproductive and in vitro aging

2015 - JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Bianchi, S; Macchiarelli, G.; Micara, Giulietta; Linari, Antonella; Boninsegna, Claudia; Aragona, Cesare; Rossi, G.; Cecconi, S.; Nottola, Stefania Annarita

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS

Cafiero, Concetta; Marangi, Giuseppe; Orteschi, Daniela; Ali, Marwan; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, Vincenzo; Battaglia, Domenica; Mercuri, Eugenio; Slavotinek, Anne M; Zollino, Marcella

Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-Ã-cyclodextrin

2015 - ORPHANET JOURNAL OF RARE DISEASES

Palladino, Giampiero; Loizzo, Stefano; Fortuna, Andrea; Canterini, Sonia; Palombi, Fioretta; Erickson, Robert Porter; Mangia, Franco; Fiorenza, Maria Teresa

Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS

Capalbo, Antonio; Treff, Nathan R; Cimadomo, Danilo; Tao, Xin; Upham, Kathleen; Ubaldi, Filippo Maria; Rienzi, Laura; Scott, Richard T.

Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome

2015 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Digilio, M. Cristina; Versacci, Paolo; Bernardini, Laura; Novelli, Antonio; MARINO TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

2015 - HUMAN MOLECULAR GENETICS

Peterlongo, Paolo; Catucci, Irene; Colombo, Mara; Caleca, Laura; Mucaki, Eliseos; Bogliolo, Massimo; Marin, Maria; Damiola, Francesca; Bernard, Loris; Pensotti, Valeria; Volorio, Sara; Dall'Olio, Valentina; Meindl, Alfons; Bartram, Claus; Sutter, Christian; Surowy, Harald; Sornin, ValÃ©rie; Dondon, Marie Gabrielle; Eon Marchais, SÃ©verine; Stoppa Lyonnet, Dominique; Andrieu, Nadine; Sinilnikova, Olga M.; Mitchell, Gillian; James, Paul A.; Thompson, Ella; Marchetti, Marina; Verzeroli, Cristina; Tartari, Carmen; Capone, Gabriele Lorenzo; Putignano, Anna Laura; Genuardi, Maurizio; Medici, Veronica; Marchi, Isabella; Federico, Massimo; Tognazzo, Silvia; Matricardi, Laura; Agata, Simona; Dolcetti, Riccardo; Puppa, Lara Della; Cini, Giulia; Gismondi, Viviana; Viassolo, Valeria; Perfumo, Chiara; Mencarelli, Maria Antonietta; Baldassarri, Margherita; Peissel, Bernard; Roversi, Gaia; Silvestri, Valentina; Rizzolo, Piera; Spina, Francesca; Vivanet, Caterina; Tibiletti, Maria Grazia; Caligo, Maria Adelaide; Gambino, Gaetana; Tommasi, Stefania; Pilato, Brunella; Tondini, Carlo; Corna, Chiara; Bonanni, Bernardo; Barile, Monica; Osorio, Ana; Benitez, Javier; Balestrino, Luisa; Ottini, Laura; Manoukian, Siranoush; Pierotti, Marco A.; Renieri, Alessandra; Varesco, Liliana; Couch, Fergus J.; Wang, Xianshu; Devilee, Peter; Hilbers, Florentine S.; van Asperen, Christi J.; Viel, Alessandra; Montagna, Marco; Cortesi, Laura; Diez, Orland; BalmaÃ±a, Judith; Hauke, Jan; Schmutzler, Rita K.; Papi, Laura; Pujana, Miguel Angel; LÃ¡zaro, Conxi; Falanga, Anna; Offit, Kenneth; Vijai, Joseph; Campbell, Ian; Burwinkel, Barbara; Kvist, Anders; Ehrencrona, Hans; Mazoyer, Sylvie; Pizzamiglio, Sara; Verderio, Paolo; Surralles, Jordi; Rogan, Peter K.; Radice, Paolo

Epigenetic treatment of solid tumours. A review of clinical trials

2015 - CLINICAL EPIGENETICS

Nervi, Clara; DE MARINIS, Elisabetta; CODACCI PISANELLI, Giovanni

Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Carvill, Gemma L; Mcmahon, Jacinta M.; Schneider, Amy; Zemel, Matthew; Myers, Candace T.; Saykally, Julia; Nguyen, John; Robbiano, Angela; Zara, Federico; Specchio, Nicola; Mecarelli, Oriano; Smith, Robert L.; Leventer, Richard J.; MÃ¸ller, Rikke S.; Nikanorova, Marina; Dimova, Petia; Jordanova, Albena; Petrou, Steven; Helbig, Ingo; Striano, Pasquale; Weckhuysen, Sarah; Berkovic, Samuel F.; Scheffer, Ingrid E.; Mefford, Heather C.

Hypoplastic left heart syndrome and 21q22.3 deletion

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Ciocca, Laura; Digilio, M. Cristina; Lombardo, Antonietta; D'Elia, Gemma; Baban, Anwar; Capolino, Rossella; Petrocchi, Stefano; Russo, Serena; Sirleto, Pietro; Roberti, M. Cristina; Marino, Bruno; Angioni, Adriano; Dallapiccola, Bruno