Magini Pamela; Scarano Emanuela; Donati I.; Sensi A.; Mazzanti Laura; Perri Annamaria; Tamburrino Federica; Mongelli P.; Percesepe A.; Visconti Paola; Parmeggiani Antonia; Seri Marco; Graziano Claudio, Corrigendum to “Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders” [Gene 706 (2019) 162–171](S037811191930469X)(10.1016/j.gene.2019.05.007), «GENE», 2020, 735, Article number: 144393 , pp. 144393 - N/A [Scientific article]
Bertulli C.; Marzollo A.; Doria M.; Cesare S.D.; La Scola C.; Mencarelli F.; Pasini A.; Affinita M.C.; Vidal E.; Magini P.; Dimartino P.; Masetti R.; Greco L.; Palomba P.; Conti F.; Pession A., Expanding phenotype of schimke immuno-osseous dysplasia: Congenital anomalies of the kidneys and of the urinary tract and alteration of nk cells, «INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES», 2020, 21, Article number: 8604 , pp. 1 - 17 [Scientific article]Open Access
Del Dotto, Valentina; Ullah, Farid; Di Meo, Ivano; Magini, Pamela; Gusic, Mirjana; Maresca, Alessandra; Caporali, Leonardo; Palombo, Flavia; Tagliavini, Francesca; Baugh, Evan Harris; Macao, Bertil; Szilagyi, Zsolt; Peron, Camille; Gustafson, Margaret A; Khan, Kamal; La Morgia, Chiara; Barboni, Piero; Carbonelli, Michele; Valentino, Maria Lucia; Liguori, Rocco; Shashi, Vandana; Sullivan, Jennifer; Nagaraj, Shashi; El-Dairi, Mays; Iannaccone, Alessandro; Cutcutache, Ioana; Bertini, Enrico; Carrozzo, Rosalba; Emma, Francesco; Diomedi-Camassei, Francesca; Zanna, Claudia; Armstrong, Martin; Page, Matthew; Stong, Nicholas; Boesch, Sylvia; Kopajtich, Robert; Wortmann, Saskia; Sperl, Wolfgang; Davis, Erica E; Copeland, William C; Seri, Marco; Falkenberg, Maria; Prokisch, Holger; Katsanis, Nicholas; Tiranti, Valeria; Pippucci, Tommaso; Carelli, Valerio, SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder, «THE JOURNAL OF CLINICAL INVESTIGATION», 2020, 130, pp. 108 - 125 [Scientific article]Open Access
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 [Scientific article]
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 [Scientific article]
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 [Scientific article]
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 [Scientific article]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 [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]
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]
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]
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 [Scientific article]
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 [Scientific article]
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 [Scientific article]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 [Scientific article]Open Access
