Capellari, Sabina; Baiardi, Simone; Rinaldi, Rita; Bartoletti-Stella, Anna; Graziano, Claudio; Piras, Silvia; Calandra-Buonaura, Giovanna; D'Angelo, Roberto; Terziotti, Camilla; Lodi, Raffaele; Donadio, Vincenzo; Pironi, Loris; Cortelli, Pietro; Parchi, Piero, Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis, «ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY», 2018, 5, pp. 777 - 783 [articolo]Open Access
Graziano, Claudio; Gusson, Elena; Severi, Giulia; Isidori, Federica; Wischmeijer, Anita; Brugnara, Milena; Seri, Marco; Rossi, Cesare, A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature, «OPHTHALMIC GENETICS», 2017, 38, pp. 590 - 592 [articolo]
Bonora, Elena; Bianco, Francesca; Stanzani, Agnese; Diquigiovanni, Chiara; Rinaldi, Rita; D'Angelo, Roberto; Cogliandro, ROSANNA FRANCESCA; Smith, Joshua D.; Nickerson, Deborah; Bamshad, Mike; Assadi, Ghazaleh; Clavenzani, Paolo; Lindberg, Greger; D'Amato, Mauro; Graziano, Claudio; Stanghellini, Vincenzo; Seri, Marco; DE GIORGIO, Roberto, Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing, «GASTROENTEROLOGY», 2017, 152, pp. S129 - S129 [abstract]
Severi, Giulia; Bernardini, Laura; Briuglia, Silvana; Bigoni, Stefania; Buldrini, Barbara; Magini, Pamela; Dentici, Maria L.; Cordelli, Duccio M.; Arrigo, Teresa; Franzoni, Emilio; Fini, Sergio; Italyankina, Eleonora; Loddo, Italia; Novelli, Antonio; Graziano, Claudio*, New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2016, 170, pp. 162 - 169 [articolo]
Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Shen, Gu; Coban Akdemir, Zeynep; Eldomery, Mohammad K.; Posey, Jennifer E.; Jhangiani, Shalini N.; Rosenfeld, Jill A.; Cho, Megan T.; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M.; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A.; Smith, Joshua D.; Mclaughlin, Heather M.; Eng, Christine M.; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V.; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M.; Lotze, Timothy E.; Boerwinkle, Eric; Gibbs, Richard A.; Hickey, Scott E.; Graham, Brett H.; Yang, Yaping; Buhas, Daniela; Martin, Donna M.; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J.; Lupski, James R., Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes, «AMERICAN JOURNAL OF HUMAN GENETICS», 2016, 99, pp. 831 - 845 [articolo]Open Access
Magini, Pamela; Poscente, Monica; Ferrari, Simona; Vargiolu, Manuela; Bacchelli, Elena; Graziano, Claudio; Wischmeijer, Anita; Turchetti, Daniela; Malaspina, Elisabetta; Marchiani, Valentina; Cordelli, Duccio Maria; Franzoni, Emilio; Romeo, Giovanni; Seri, Marco, Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration, «MOLECULAR CYTOGENETICS», 2015, 8, Article number: 58, pp. 1 - 7 [articolo]Open Access
Bonora, E; Bianco, F; Cordeddu, L; Bamshad, M; Francescatto, L; Dowless, D; Stanghellini, V; Cogliandro, Rf; Lindberg, G; Mungan, Z; Cefle, K; Ozcelik, T; Palanduz, S; Ozturk, S; Gedikbasi, A; Gori, A; Pippucci, T; Graziano, C; Volta, U; Caio, G; Barbara, G; D'Amato, M; Seri, M; Katsanis, N; Romeo, G; De Giorgio, R., Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction., «GASTROENTEROLOGY», 2015, 148, pp. 771 - 782 [articolo]Open Access
Bonora E;Graziano C;Minopoli F;Bacchelli E;Magini P;Diquigiovanni C;Lomartire S;Bianco F;Vargiolu M;Parchi P;Marasco E;Mantovani V;Rampoldi L;Trudu M;Parmeggiani A;Battaglia A;Mazzone L;Tortora G;Maestrini E;Seri M;Romeo G;IMGSAC, Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients., «EMBO MOLECULAR MEDICINE», 2014, 6, pp. 795 - 809 [articolo]Open Access
Bonora, Elena; Bianco, Francesca; Bamshad, Mike; Dowless, Dustin; Francescatto, Ludmila; Katsanis, Nicholas; Cooper, Gregory; Savic, Daniel; Stanghellini, Vincenzo; Mungan, Zeynel; Cefle, Kivanc; Cogliandro, ROSANNA FRANCESCA; Boschetti, Elisa; Graziano, Claudio; Seri, Marco; Romeo, Giovanni; DE GIORGIO, Roberto, Su2019 Functional Characterization of a Novel RAD21 Mutation in Familial Chronic Intestinal Pseudo-Obstruction (CIPO), «GASTROENTEROLOGY», 2014, 146, pp. S-524 - S-524 [abstract]
Mucciolo, M; Magini, Pamela; Marozza, A; Mongelli, P; Mencarelli, Ma; Hayek, G; Tavalazzi, F; Mari, F; Seri, Marco; Renieri, A; Graziano, Claudio, 9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2014, 164A, pp. 685 - 690 [articolo]
Doimo M; Desbats MA; Baldoin MC; Lenzini E; Basso G; Murphy E; Graziano C; Seri M; Burlina A; Sartori G; Trevisson E; Salviati L., Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina., «HUMAN MUTATION», 2013, 34, pp. 229 - 236 [articolo]
Graziano C; David M; Magini P; Superti-Furga A; Seri M., An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum., «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2012, 158A, pp. 3211 - 3213 [articolo]
F.Baronio; R.Santer; I.Bettocchi; C.Graziano; J.Bergmann; M.Bal; D.Rinaldini; A.Cassio, Fanconi-Bickel syndrome: a mild form associated with GLUT2 mutation, in: SSIEM Abstracts, «JOURNAL OF INHERITED METABOLIC DISEASE», 2012, 35(suppl1), pp. 78 - 78 (atti di: Annual Symposium SSIEM, Birminghan,UK, 4-7 settembre 2012) [atti di convegno-abstract]
Panza E; Knowles CH; Graziano C; Thapar N; Burns AJ; Seri M; Stanghellini V; De Giorgio R., Genetics of human enteric neuropathies., «PROGRESS IN NEUROBIOLOGY», 2012, 96, pp. 176 - 189 [articolo]
Marco Seri; Claudio Graziano; Daniela Turchetti; Juri Monducci, Test genetici e consenso informato, «SALUTE E SOCIETÀ», 2012, 3, pp. 68 - 95 [articolo]
