Pubblicazioni

Value-based genomic screening. Exploring genomic screening for chronic diseases using triple value principles

2019 - BMC HEALTH SERVICES RESEARCH

Dombradi, V.; Pitini, E.; Van El, C. G.; Jani, A.; Cornel, M.; Villari, P.; Gray, M.; Biro, K.

A new mutation in NTRK1 gene is associated with congenital insensitivity to pain without anhidrosis

2019 - META GENE

Hajiesmaeil, Mogge; Yazarlou, Fatemeh; Sobhani, Maryam; Ghafouri-Fard, Soudeh

A de novo KCNQ2 gene mutation associated with non-familial early onset seizures: Case report and revision of literature data

2019 - FRONTIERS IN PEDIATRICS

Laccetta, G.; Fiori, S.; Giampietri, M.; Ferrari, A.; Cetica, V.; Bernardini, M.; Chesi, F.; Mazzotti, S.; Parrini, E.; Ciantelli, M.; Guzzetta, A.; Ghirri, P.

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

2019 - CEREBELLUM

Ciaccio, C.; Castello, R.; Esposito, S.; Pinelli, M.; Nigro, V.; Casari, G.; Chiapparini, L.; Pantaleoni, C.; Torella, A.; Cappuccio, G.; Musacchia, F.; Mutarelli, M.; Carrella, D.; Vitiello, G.; Parenti, G.; Capra, V.; Leuzzi, V.; Selicorni, A.; Maitz, S.; Brunetti-Pierri, N.; Banfi, S.; Zollino, M.; Montomoli, M.; Milani, D.; Romano, C.; Tummolo, A.; De Brasi, D.; Coppola, A.; Santoro, C.; D'Arrigo, S.

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

2019 - MOVEMENT DISORDERS

Carecchio, M.; Invernizzi, F.; Gonzalez-Latapi, P.; Panteghini, C.; Zorzi, G.; Romito, L.; Leuzzi, V.; Galosi, S.; Reale, C.; Zibordi, F.; Joseph, A. P.; Topf, M.; Piano, C.; Bentivoglio, A. R.; Girotti, F.; Morana, P.; Morana, B.; Kurian, M. A.; Garavaglia, B.; Mencacci, N. E.; Lubbe, S. J.; Nardocci, N.

Kif1c variants are associated with hypomyelination, ataxia, tremor, and dystonia in fraternal twins

2019 - TREMOR AND OTHER HYPERKINETIC MOVEMENTS

Marchionni, E.; Meneret, A.; Keren, B.; Melki, J.; Denier, C.; Durr, A.; Apartis, E.; Boespflug-Tanguy, O.; Mochel, F.

Effects of KEAP1 Silencing on the Regulation of NRF2 Activity in Neuroendocrine Lung Tumors

2019 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Sparaneo, A; Fabrizio, Fp; la Torre, A; Graziano, P; Di Maio, M; Fontana, A; Bisceglia, M; Rossi, A; Pizzolitto, S; De Maglio, G; Tancredi, A; Grimaldi, F; Balsamo, T; Centra, F; Manzorra, Mc; Trombetta, D; Pantalone, A; Bonfitto, A; Maiello, E; Fazio, Vm; Muscarella, La

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

2018 - HUMAN MUTATION

Rebbeck, Timothy R; Friebel, Tara M; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I; Solano, Angela R; Teo, Soo-Hwang; Thomassen, Mads; Weitzel, Jeffrey N; Chan, T L; Couch, Fergus J; Goldgar, David E; Kruse, Torben A; Palmero, Edenir InÃªz; Park, Sue Kyung; Torres, Diana; van Rensburg, Elizabeth J; Mcguffog, Lesley; Parsons, Michael T; Leslie, Goska; Aalfs, Cora M; Abugattas, Julio; Adlard, Julian; Agata, Simona; AittomÃ¤ki, Kristiina; Andrews, Lesley; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Arun, Banu K; Asseryanis, Ella; Auerbach, Leo; Azzollini, Jacopo; BalmaÃ±a, Judith; Barile, Monica; Barkardottir, Rosa B; Barrowdale, Daniel; Benitez, Javier; Berger, Andreas; Berger, Raanan; Blanco, Amie M; Blazer, Kathleen R; Blok, Marinus J; Bonadona, ValÃ©rie; Bonanni, Bernardo; Bradbury, Angela R; Brewer, Carole; Buecher, Bruno; Buys, Saundra S; Caldes, Trinidad; Caliebe, Almuth; Caligo, Maria A; Campbell, Ian; Caputo, Sandrine; Chiquette, Jocelyne; Chung, Wendy K; Claes, Kathleen B M; CollÃ©e, J Margriet; Cook, Jackie; Davidson, Rosemarie; de la Hoya, Miguel; De Leeneer, Kim; de Pauw, Antoine; Delnatte, Capucine; Diez, Orland; Ding, Yuan Chun; Ditsch, Nina; Domchek, Susan M; Dorfling, Cecilia M; Velazquez, Carolina; Dworniczak, Bernd; Eason, Jacqueline; Easton, Douglas F; Eeles, Ros; Ehrencrona, Hans; Ejlertsen, Bent; Engel, Christoph; Engert, Stefanie; Evans, D Gareth; Faivre, Laurence; FeliubadalÃ³, Lidia; Ferrer, Sandra Fert; Foretova, Lenka; Fowler, Jeffrey; Frost, Debra; GalvÃ£o, Henrique C R; Ganz, Patricia A; Garber, Judy; Gauthier-Villars, Marion; Gehrig, Andrea; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K; Greene, Mark H; Gronwald, Jacek; Gutierrez-Barrera, Angelica; Hahnen, Eric; Hauke, Jan; Henderson, Alex; Hentschel, Julia; Hogervorst, Frans B L; Honisch, Ellen; Imyanitov, Evgeny N; Isaacs, Claudine; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M; Joseph, Vijai; Kaczmarek, Katarzyna; Karlan, Beth Y; Kast, Karin; Investigators, Kconfab; Kim, Sung-Won; Konstantopoulou, Irene; Korach, Jacob; Laitman, Yael; Lasa, Adriana; Lasset, Christine; LÃ¡zaro, Conxi; Lee, Annette; Lee, Min Hyuk; Lester, Jenny; Lesueur, Fabienne; Liljegren, Annelie; Lindor, Noralane M; Longy, Michel; Loud, Jennifer T; Lu, Karen H; Lubinski, Jan; Machackova, Eva; Manoukian, Siranoush; Mari, VÃ©ronique; MartÃnez-Bouzas, Cristina; Matrai, Zoltan; Mebirouk, Noura; Meijers-Heijboer, Hanne E J; Meindl, Alfons; Mensenkamp, Arjen R; Mickys, Ugnius; Miller, Austin; Montagna, Marco; Moysich, Kirsten B; Mulligan, Anna Marie; Musinsky, Jacob; Neuhausen, Susan L; Nevanlinna, Heli; Ngeow, Joanne; Nguyen, Huu Phuc; Niederacher, Dieter; Nielsen, Henriette Roed; Nielsen, Finn Cilius; Nussbaum, Robert L; Offit, Kenneth; Ãfverholm, Anna; Ong, Kai-Ren; Osorio, Ana; Papi, Laura; Papp, Janos; Pasini, Barbara; Pedersen, Inge Sokilde; Msc, Ana Peixoto; Msc, Nina Peruga; Peterlongo, Paolo; Pohl, Esther; Ba, Nisha Pradhan; Prajzendanc, Karolina; Prieur, Fabienne; Pujol, Pascal; Radice, Paolo; Ramus, Susan J; Rantala, Johanna; Rashid, Muhammad Usman; Rhiem, Kerstin; Robson, Mark; Rodriguez, Gustavo C; Rogers, Mark T; Rudaitis, Vilius; Schmidt, Ane Y; Schmutzler, Rita Katharina; Senter, Leigha; Shah, Payal D; Sharma, Priyanka; Side, Lucy E; Simard, Jacques; Singer, Christian F; Skytte, Anne-Bine; Slavin, Thomas P; Snape, Katie; Sobol, Hagay; Southey, Melissa; Steele, Linda; Steinemann, Doris; Sukiennicki, Grzegorz; Sutter, Christian; Szabo, Csilla I; Tan, Yen Y; Teixeira, Manuel R; Terry, Mary Beth; TeulÃ©, Alex; Thomas, Abigail; Thull, Darcy L; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Topka, Sabine; Trainer, Alison H; Tung, Nadine; van Asperen, Christi J; van der Hout, Annemieke H; van der Kolk, Lizet E; van der Luijt, Rob B; Van Heetvel

Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types

2018 - CELL REPORTS

Michael, Seiler; Shouyong, Peng; Anant A, Agrawal; James, Palacino; Teng, Teng; Ping, Zhu; Peter G, Smith; Alvaro, Domenico; Bragazzi, MARIA CONSIGLIA; Cardinale, Vincenzo; Gaudio, Eugenio; Silvia, Buonamici; Lihua, Yu

Induction chemotherapy followed by neoadjuvant chemoradiotherapy and surgery in locally advanced rectal cancer: preliminary results of a phase II study

2018 - ONCOTARGET

De Felice, Francesca; D'Ambrosio, Giancarlo; Musio, Daniela; Iafrate, Franco; Benevento, Ilaria; Marzo, Marco; Mancini, Marialaura; Urbano, Federica; Iannitti, Marcella; Marampon, Francesco; Bulzonetti, Nadia; Cortesi, Enrico; Tombolini, Vincenzo

Mutations in the GLA gene and LysoGb3.Is it really anderson-fabry disease

2018 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Duro, G.; Zizzo, Corrado; Cammarata, G.; Burlina, A.; Burlina, A.; Polo, G.; Scalia, S.; Oliveri, Romano; Sciarrino, S.; Francofonte, D.; Alessandro, Riccardo; Pisani, A.; Palladino, G.; Napoletano, Rosa; Tenuta, M.; Masarone, D.; Limongelli, Giorgio; Riccio, E.; Frustaci, A.; Chimenti, C.; Ferri, C.; Pieruzzi, F.; Pieroni, M.; Spada, M.; Castana, C.; Caserta, M.; Monte, I.; Rodolico, M. S.; Feriozzi, S.; Battaglia, Y.; Amico, L.; Losi, M. A.; Autore, C.; Lombardi, M.; Zoccali, Camilla; Testa, A.; Postorino, M.; Mignani, Roberto; Zachara, E.; Giordano, A.; Colomba, P.

Molecular, pathological, radiological, and immune profiling of non-brainstem pediatric high-grade glioma from the HERBY phase II randomized trial

2018 - CANCER CELL

Mackay, A.; Burford, A.; Molinari, V.; Jones, D. T. W.; Izquierdo, E.; Brouwer-Visser, J.; Giangaspero, F.; Haberler, C.; Pietsch, T.; Jacques, T. S.; Figarella-Branger, D.; Rodriguez, D.; Morgan, P. S.; Raman, P.; Waanders, A. J.; Resnick, A. C.; Massimino, M.; Garre, M. L.; Smith, H.; Capper, D.; Pfister, S. M.; Wurdinger, T.; Tam, R.; Garcia, J.; Thakur, M. D.; Vassal, G.; Grill, J.; Jaspan, T.; Varlet, P.; Jones, C.

Concomitant IDH wild-type glioblastoma and IDH1-mutant anaplastic astrocytoma in a patient with constitutional mismatch repair deficiency syndrome

2018 - NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Galuppini, F.; Opocher, E.; Tabori, U.; Mammi, I.; Edwards, M.; Campbell, B.; Kelly, J.; Viel, A.; Quaia, M.; Rivieri, F.; D'Avella, D.; Arcella, A.; Giangaspero, F.; Fassan, M.; Gardiman, M. P.

HELLS and CDCA7 comprise a bipartite nucleosome remodeling complex defective in ICF syndrome

2018 - PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Jenness, C.; Giunta, S.; Muller, M. M.; Kimura, H.; Muir, T. W.; Funabiki, H.

Phosphoinositide 3-kinase gamma inhibition protects from anthracycline cardiotoxicity and reduces tumor growth

2018 - CIRCULATION

Li, M.; Sala, V.; De Santis, M. C.; Cimino, J.; Cappello, P.; Pianca, N.; Di Bona, A.; Margaria, J. P.; Martini, M.; Lazzarini, E.; Pirozzi, F.; Rossi, L.; Franco, I.; Bornbaum, J.; Heger, J.; Rohrbach, S.; Perino, A.; Tocchetti, C. G.; Lima, B. H. F.; Teixeira, M. M.; Porpo-rato, P. E.; Schulz, R.; Angelini, A.; Sandri, M.; Ameri, P.; Sciarretta, S.; Lima-Junior, R. C. P.; Mongillo, M.; Zaglia, T.; Morello, F.; Novelli, F.; Hirsch, E.; Ghigo, A.

Differential toxicity of TAR DNA-binding protein 43 isoforms depends on their submitochondrial localization in neuronal cells

2018 - JOURNAL OF NEUROCHEMISTRY

Salvatori, I.; Ferri, A.; Scaricamazza, S.; Giovannelli, I.; Serrano, A.; Rossi, S.; D'Ambrosi, N.; Cozzolino, M.; Giulio, A. D.; Moreno, S.; Valle, C.; Carri, M. T.

Clinical, dermoscopic, and confocal features of nevi and melanomas in a multiple primary melanoma patient with the MITF p.E318K homozygous mutation

2018 - MELANOMA RESEARCH

Bassoli, S.; Pellegrini, Camilla; Longo, C.; Di Nardo, L.; Farnetani, F.; Cesinaro, A. M.; Pellacani, G.; Fargnoli, M. C.

Dabrafenib-trametinib combination in 'field-practice': An Italian experience

2018 - FUTURE ONCOLOGY

Depenni, R.; De Rosa, F.; Greco, S.; Ridolfi, L.; Pellacani, G.; Ponti, G.; Cascinu, S.; Guidoboni, M.

Polynucleotide phosphorylase is involved in the control of lipopeptide fengycin production in Bacillus subtilis

2018 - O

Yaseen, Y.; Diop, A.; Gancel, F.; Bechet, M.; Jacques, P.; Drider, D.

Microenvironment in neuroblastoma: Isolation and characterization of tumor-derived mesenchymal stromal cells

2018 - BMC CANCER

Pelizzo, G.; Veschi, V.; Mantelli, M.; Croce, S.; Di Benedetto, V.; D'Angelo, P.; Maltese, A.; Catenacci, L.; Apuzzo, T.; Scavo, E.; Moretta, A.; Todaro, M.; Stassi, G.; Avanzini, M. A.; Calcaterra, V.

The pathological Trento variant of alpha-1-antitrypsin (E75V) shows nonclassical behaviour during polymerization

2017 - THE FEBS JOURNAL

MIRANDA BANOS, MARIA ELENA; Ferrarotti, Ilaria; Berardelli, Romina; Laffranchi, Mattia; Cerea, Marta; Gangemi, Fabrizio; Haq, Imran; Ottaviani, Stefania; Lomas, David A.; Irving, James A.; Fra, Annamaria

Treatment in EGFR-mutated non-small cell lung cancer: how to block the receptor and overcome resistance mechanisms

2017 - TUMORI

Proto, Claudia; Lo Russo, Giuseppe; Corrao, Giulia; Ganzinelli, Monica; Facchinetti, Francesco; Minari, Roberta; Tiseo, Marcello; Garassino, Marina Chiara

Ferric uptake regulator Fur is conditionally essential in Pseudomonas aeruginosa

2017 - JOURNAL OF BACTERIOLOGY

Pasqua, Martina; Visaggio, Daniela; Lo Sciuto, Alessandra; Genah, Shirley; Banin, Ehud; Visca, Paolo; Imperi, Francesco

Establishment and long-term culture of human cystic fibrosis endothelial cells

2017 - LABORATORY INVESTIGATION

Plebani, Roberto; Tripaldi, Romina; Lanuti, Paola; Recchiuti, Antonio; Patruno, Sara; Di Silvestre, Sara; Simeone, Pasquale; Anile, Marco; Venuta, Federico; Prioletta, Marco; Mucilli, Felice; Del Porto, Paola; Marchisio, Marco; Pandolfi, Assunta; Romano, Mario

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

2017 - JOURNAL OF THE NATIONAL CANCER INSTITUTE

Kuchenbaecker, Karoline B.; Mcguffog, Lesley; Barrowdale, Daniel; Lee, Andrew; Soucy, Penny; Healey, Sue; Dennis, Joe; Lush, Michael; Robson, Mark; Spurdle, Amanda B.; Ramus, Susan J.; Mavaddat, Nasim; Beth Terry, Mary; Neuhausen, Susan L.; Hamann, Ute; Southey, Melissa; John, Esther M.; Chung, Wendy K.; Daly, Mary B.; Buys, Saundra S.; Goldgar, David E.; Dorfling, Cecilia M.; van Rensburg, Elizabeth J.; Chun Ding, Yuan; Ejlertsen, Bent; Gerdes, Anne-Marie; Hansen, Thomas V. O.; Slager, Susan; Hallberg, Emily; Benitez, Javier; Osorio, Ana; Cohen, Nancy; Lawler, William; Weitzel, Jeffrey N.; Peterlongo, Paolo; Pensotti, Valeria; Dolcetti, Riccardo; Barile, Monica; Bonanni, Bernardo; Azzollini, Jacopo; Manoukian, Siranoush; Peissel, Bernard; Radice, Paolo; Savarese, Antonella; Papi, Laura; Giannini, Giuseppe; Fostira, Florentia; Konstantopoulou, Irene; Adlard, Julian; Brewer, Carole; Cook, Jackie; Davidson, Rosemarie; Eccles, Diana; Eeles, Ros; Ellis, Steve; Embrace, ; Frost, Debra; Hodgson, Shirley; Izatt, Louise; Lalloo, Fiona; Ong, Kai-ren; Godwin, Andrew K.; Arnold, Norbert; Dworniczak, Bernd; Engel, Christoph; Gehrig, Andrea; Hahnen, Eric; Hauke, Jan; Kast, Karin; Meindl, Alfons; Niederacher, Dieter; Katharina Schmutzler, Rita; Varon-Mateeva, Raymonda; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Barjhoux, Laure; Collonge-Rame, Marie-Agne`s; Elan, Camille; Study Collaborators, Gemo; Golmard, Lisa; Barouk-Simonet, Emmanuelle; Lesueur, Fabienne; Mazoyer, Sylvie; Sokolowska, Joanna; Stoppa- Lyonnet, Dominique; Isaacs, Claudine; Claes, Kathleen B. M.; Poppe, Bruce; de la Hoya, Miguel; Garcia-Barberan, Vanesa; Aittomâ¬aki, Kristiina; Nevanlinna, Heli; Ausems, Margreet G. E. M.; de Lange, J. L.; Gomez Garcia, Encarna B.; Hebon, ; Hogervorst, Frans B. L.; Kets, Carolien M.; Meijers-Heijboer, Hanne E. J.; Oosterwijk, Jan C.; Rookus, Matti A.; van Asperen, Christi J.; van den Ouweland, Ans M. W.; van Doorn, Helena C.; van Os, Theo A. M.; Kwong, Ava; Olah, Edith; Diez, Orland; Brunet, Joan; Lazaro, Conxi; TeuleÂ´, Alex; Gronwald, Jacek; Jakubowska, Anna; Kaczmarek, Katarzyna; Lubinski, Jan; Sukiennicki, Grzegorz; Barkardottir, Rosa B.; Chiquette, Jocelyne; Agata, Simona; Montagna, Marco; Teixeira, Manuel R.; Investigators, Kconfab; Kyung Park, Sue; Olswold, Curtis; Tischkowitz, Marc; Foretova, Lenka; Gaddam, Pragna; Vijai, Joseph; Pfeiler, Georg; Rappaport-Fuerhauser, Christine; Singer, Christian F.; Tea, Muy-Kheng M.; Greene, Mark H.; Loud, Jennifer T.; Rennert, Gad; Imyanitov, Evgeny N.; Hulick, Peter J.; Hays, John L.; Piedmonte, Marion; Rodriguez, Gustavo C.; Martyn, Julie; Glendon, Gord; Marie Mulligan, Anna; Andrulis, Irene L.; Ewart Toland, Amanda; Birk Jensen, Uffe; Kruse, Torben A.; Sokilde Pedersen, Inge; Thomassen, Mads; Caligo, Maria A.; Teo, Soo-Hwang; Berger, Raanan; Friedman, Eitan; Laitman, Yael; Arver, Brita; Borg, Ake; Ehrencrona, Hans; Rantala, Johanna; Olopade, Olufunmilayo I.; Ganz, Patricia A.; Nussbaum, Robert L.; Bradbury, Angela R.; Domchek, Susan M.; Nathanson, Katherine L.; Arun, Banu K.; James, Paul; Karlan, Beth Y.; Lester, Jenny; Simard, Jacques; Pharoah, Paul D. P.; Offit, Kenneth; Couch, Fergus J.; Chenevix-Trench, Georgia; Easton, Douglas F.; Antoniou, Antonis C.