Ciavarella, Michele; Miccoli, Sara; Prossomariti, Anna; Pippucci, Tommaso; Bonora, Elena; Buscherini, Francesco; Palombo, Flavia; Zuntini, Roberta; Balbi, Tiziana; Ceccarelli, Claudio; Bazzoli, Franco; Ricciardiello, Luigi; Turchetti, Daniela; Piazzi, Giulia, Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2018, --, pp. 1 - 9 [Scientific article]Open Access
Palombo, Flavia; Al Wardy, Nadia; GNECCHI RUSCONE, GUIDO ALBERTO; Oppo, Manuela; Kindi, Mohammed Nasser Al; Angius, Andrea; Al Lamki, Khalsa; Girotto, Giorgia; Giangregorio, Tania; Benelli, Matteo; Magi, Alberto; Seri, Marco; Gasparini, Paolo; Cucca, Francesco; Sazzini, Marco; Al Khabori, Mazin; Pippucci, Tommaso; Romeo, Giovanni, A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman, «JOURNAL OF HUMAN GENETICS», 2017, 62, pp. 259 - 264 [Scientific article]
Ferri, Lorenzo; Bisulli, Francesca; Mai, Roberto; Licchetta, Laura; Leta, Chiara; Nobili, Lino; Mostacci, Barbara; Pippucci, Tommaso; Tinuper, Paolo, A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation, «SEIZURE», 2017, 53, pp. 51 - 54 [Scientific article]
Zuntini, Roberta; Cortesi, Laura; Calistri, Daniele; Pippucci, Tommaso; Martelli, Pier Luigi; Casadio, Rita; Capizzi, Elisa; Santini, Donatella; Miccoli, Sara; Medici, Veronica; Danesi, Rita; Marchi, Isabella; Zampiga, Valentina; Fiorentino, Michelangelo; Ferrari, Simona; Turchetti, Daniela, BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype, «ONCOTARGET», 2017, 8, pp. 22640 - 22648 [Scientific article]
Rinaldi B.; Vaisfeld A.; Amarri S.; Baldo C.; Gobbi G.; Magini P.; Melli E.; Neri G.; Novara F.; Pippucci T.; Rizzi R.; Soresina A.; Zampini L.; Zuffardi O.; Crimi M., Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force, «ORPHANET JOURNAL OF RARE DISEASES», 2017, 12, Article number: 69 , pp. 1 - 11 [Scientific article]
Marconi, Caterina; Canobbio, Ilaria; Bozzi, Valeria; Pippucci, Tommaso; Simonetti, Giorgia; Melazzini, Federica; Angori, Silvia; Martinelli, Giovanni; Saglio, Giuseppe; Torti, Mauro; Pastan, Ira; Seri, Marco; Pecci, Alessandro, 5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia, «JOURNAL OF HEMATOLOGY & ONCOLOGY», 2017, 10, Article number: 18 , pp. 10 - 18 [Scientific article]Open Access
Stipa, Carlotta; Licchetta, Laura; Farolfi, A; Paccagnella, E; Magini, P; Pippucci, T; Leta, C; Menghi, V; Ferri, L; Mostacci, B; Tinuper, Paolo; Bisulli, Francesca, Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases, «CLINICAL CASES AND REVIEWS IN EPILEPSY», 2016, 1, pp. 173 - 177 [Scientific article]
Panza, Emanuele; Escamilla-Honrubia, Juan M; Marco-Marín, Clara; Gougeard, Nadine; De Michele, Giuseppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Németh, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente; Seri, Marco, ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism, «BRAIN», 2016, 139, pp. 1 - 8 [Comment or similar]
Melazzini, Federica; Palombo, Flavia; Balduini, Alessandra; De Rocco, Daniela; Marconi, Caterina; Noris, Patrizia; Gnan, Chiara; Pippucci, Tommaso; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Doubek, Michael; Di Buduo, Christian A; Stano Kozubik, Katerina; Radova, Lenka; Loffredo, Giuseppe; Pospisilova, Sarka; Alfano, Caterina; Seri, Marco; Balduini, Carlo L; Pecci, Alessandro; Savoia, Anna, Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia, «HAEMATOLOGICA», 2016, 101, pp. 1333 - 1342 [Scientific article]Open Access
Bisulli, Francesca; Licchetta, Laura; Baldassari, Sara; Pippucci, Tommaso; Tinuper, Paolo, DEPDC5 mutations in epilepsy with auditory features, «EPILEPSIA», 2016, 57, pp. 335 - 335 [Comment or similar]
Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano, Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina, From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks, «HUMAN MUTATION», 2016, 37, pp. 175 - 183 [Scientific article]
Baldassari, Sara; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Pippucci, Tommaso, GATOR1 complex: the common genetic actor in focal epilepsies, «JOURNAL OF MEDICAL GENETICS», 2016, 53, pp. 503 - 510 [Scientific article]
L. Licchetta; T.Pippucci;S. Baldassari; F.Provini; B.Mostacci; I.Naldi; F.Palombo; P. Magini; M. Seri; F. Bisulli; P. Tinuper; LICE NFLE Study Group, Identification of genes responsible for Nocturnal Frontal Lobe Epilepsy (NFLE): role of DEPDC5 mutations, «CLINICAL CASES AND REVIEWS IN EPILEPSY», 2016, 1, pp. 28 - 32 [Scientific article]
Henden, Lyndal; Freytag, Saskia; Afawi, Zaid; Baldassari, Sara; Berkovic, Samuel F.; Bisulli, Francesca; Canafoglia, Laura; Casari, Giorgio; Crompton, Douglas Ewan; Depienne, Christel; Gecz, Jozef; Guerrini, Renzo; Helbig, Ingo; Hirsch, Edouard; Keren, Boris; Klein, Karl Martin; Labauge, Pierre; Leguern, Eric; Licchetta, Laura; Mei, Davide; Nava, Caroline; Pippucci, Tommaso; Rudolf, Gabrielle; Scheffer, Ingrid Eileen; Striano, Pasquale; Tinuper, Paolo; Zara, Federico; Corbett, Mark; Bahlo, Melanie, Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2, «HUMAN GENETICS», 2016, 135, pp. 1117 - 1125 [Scientific article]
Ricos, Michael G.; Hodgson, Bree L.; Pippucci, Tommaso; Saidin, Akzam; Ong, Yeh Sze; Heron, Sarah E.; Licchetta, Laura; Bisulli, Francesca; Bayly, Marta A.; Hughes, James; Baldassari, Sara; Palombo, Flavia; Santucci, Margherita; Meletti, Stefano; Berkovic, Samuel F.; Rubboli, Guido; Thomas, Paul Q.; Scheffer, Ingrid E.; Tinuper, Paolo; Geoghegan, Joel; Schreiber, Andreas W.; Dibbens, Leanne M., Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy, «ANNALS OF NEUROLOGY», 2016, 79, pp. 120 - 131 [Scientific article]
