Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti,
Annamaria Perri, Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe,
Paola Visconti, Antonia Parmeggiani, Marco Seri, Claudio Graziano, Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders, «GENE», 2019, 706, pp. 162 - 171 [articolo]
Negri G.; Magini P.; Milani D.; Crippa M.; Biamino E.; Piccione M.; Sotgiu S.; Perria C.; Vitiello G.; Frontali M.; Boni A.; Di Fede E.; Gandini M.C.; Colombo E.A.; Bamshad M.J.; Nickerson D.A.; Smith J.D.; Loddo I.; Finelli P.; Seri M.; Pippucci T.; Larizza L.; Gervasini C., Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders, «HUMAN GENETICS», 2019, 138, pp. 257 - 269 [articolo]
Magini P.; Smits D.J.; Vandervore L.; Schot R.; Columbaro M.; Kasteleijn E.; van der Ent M.; Palombo F.; Lequin M.H.; Dremmen M.; de Wit M.C.Y.; Severino M.; Divizia M.T.; Striano P.; Ordonez-Herrera N.; Alhashem A.; Al Fares A.; Al Ghamdi M.; Rolfs A.; Bauer P.; Demmers J.; Verheijen F.W.; Wilke M.; van Slegtenhorst M.; van der Spek P.J.; Seri M.; Jansen A.C.; Stottmann R.W.; Hufnagel R.B.; Hopkin R.J.; Aljeaid D.; Wiszniewski W.; Gawlinski P.; Laure-Kamionowska M.; Alkuraya F.S.; Akleh H.; Stanley V.; Musaev D.; Gleeson J.G.; Zaki M.S.; Brunetti-Pierri N.; Cappuccio G.; Davidov B.; Basel-Salmon L.; Bazak L.; Shahar N.R.; Bertoli-Avella A.; Mirzaa G.M.; Dobyns W.B.; Pippucci T.; Fornerod M.; Mancini G.M.S., Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis, «AMERICAN JOURNAL OF HUMAN GENETICS», 2019, 105, pp. 689 - 705 [articolo]
Pelleri M.C.; Cicchini E.; Petersen M.B.; Tranebjaerg L.; Mattina T.; Magini P.; Antonaros F.; Caracausi M.; Vitale L.; Locatelli C.; Seri M.; Strippoli P.; Piovesan A.; Cocchi G., Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21, «MOLECULAR GENETICS & GENOMIC MEDICINE», 2019, 7, pp. e797 - e810 [articolo]Open Access
Bartoletti-Stella, Anna; Gasparini, Laura; Giacomini, Caterina; Corrado, Patrizia; Terlizzi, Rossana; Giorgio, Elisa; Magini, Pamela; Seri, Marco; Baruzzi, Agostino; Parchi, Piero; Brusco, Alfredo; Cortelli, Pietro; Capellari, Sabina, Corrigendum: Messenger RNA processing is altered in autosomal dominant leukodystrophy [Human Molecular Genetics, 24 (2015) (2746-2756)] DOI:10.1093/hmg/ddv034, «HUMAN MOLECULAR GENETICS», 2017, 26, pp. 3868 - 3868 [articolo]
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 [articolo]
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 [articolo]
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 [articolo]
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]
Magini, Pamela; Palombo, Flavia; Boito, Simona; Lanzoni, Giulia; Mongelli, Patrizia; Rizzuti, Tommaso; Baccarin, Marco; Pippucci, Tommaso; Seri, Marco; Lalatta, Faustina, Prenatal diagnosis of Simpson–Golabi–Behmel syndrome, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2016, 170, pp. 3258 - 3264 [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
T. Pippucci;A. Maresca;P. Magini;G. Cenacchi;V. Donadio;F. Palombo;V. Papa;A. Incensi;G. Gasparre;M. L. Valentino;C. Preziuso;A. Pisano;M. Ragno;R. Liguori;C. Giordano;C. Tonon;R. Lodi;A. Parmeggiani;V. Carelli;M. Seri, Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy, «EMBO MOLECULAR MEDICINE», 2015, 7, pp. 848 - 858 [articolo]Open Access
Kuechler, Alma; Zink, Alexander M.; Wieland, Thomas; Lüdecke, Hermann-Josef; Cremer, Kirsten; Salviati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim M.; Novarino, Gaia; Engels, Hartmut, Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2015, 23, pp. 753 - 760 [articolo]
Magini P;Pippucci T;Tsai IC;Coppola S;Stellacci E;Bartoletti-Stella A;Turchetti D;Graziano C;Cenacchi G;Neri I;Cordelli DM;Marchiani V;Bergamaschi R;Gasparre G;Neri G;Mazzanti L;Patrizi A;Franzoni E;Romeo G;Bordo D;Tartaglia M;Katsanis N;Seri M, A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype., «HUMAN MOLECULAR GENETICS», 2014, 23, pp. 3607 - 3617 [articolo]
