List of Publications
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Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study
Alfieri P, Caciolo C, Lazzaro G, Menghini D, Cumbo F, Dentici ML, Digilio MC, Gnazzo M, Demaria F, Pironi V, Zampino G, Novelli A, Tartaglia M, Vicari S
Journal of clinical medicine. 2021 Apr 6;10(7)
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Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript
Colletti M, Galardi A, Miele E, di Paolo V, Russo I, de Stefanis C, de Vito R, Rinelli M, Ciolfi A, de Angelis B, Zin A, Guffanti A, Digilio MC, Novelli A, Alaggio R, Milano GM, di Giannatale A
International journal of molecular sciences. 2021 May 22;22(11)
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Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study
Alfieri P, Caciolo C, Lazzaro G, Menghini D, Cumbo F, Dentici ML, Digilio MC, Gnazzo M, Demaria F, Pironi V, Zampino G, Novelli A, Tartaglia M, Vicari S
Journal of clinical medicine. 2021 Apr 6;10(7)
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Establishment and Characterization of a Cell Line (S-RMS1) Derived from an Infantile Spindle Cell Rhabdomyosarcoma with SRF-NCOA2 Fusion Transcript
Colletti M, Galardi A, Miele E, di Paolo V, Russo I, de Stefanis C, de Vito R, Rinelli M, Ciolfi A, de Angelis B, Zin A, Guffanti A, Digilio MC, Novelli A, Alaggio R, Milano GM, di Giannatale A
International journal of molecular sciences. 2021 May 22;22(11)
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Temperature Differentially Influences the Capacity of Trichoderma Species to Induce Plant Defense Responses in Tomato Against Insect Pests
di Lelio I, Coppola M, Comite E, Molisso D, Lorito M, Woo SL, Pennacchio F, Rao R, Digilio MC
Frontiers in plant science. 2021;12:678830
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Dysregulated miRNAs in bone cells of patients with Gorham-Stout disease
Rossi M, Rana I, Buonuomo PS, Battafarano G, Mariani E, D’Agostini M, Porzio O, de Martino V, Minisola S, Macchiaiolo M, de Vito R, Vecchio D, Gonfiantini MV, Jenkner A, Bartuli A, del Fattore A
FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2021;35(3):e21424
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Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency
Mastrogiorgio G, Macchiaiolo M, Buonuomo PS, Bellacchio E, Bordi M, Vecchio D, Brown KP, Watson NK, Contardi B, Cecconi F, Tartaglia M, Bartuli A
Orphanet journal of rare diseases. 2021;16(1):112
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Evolocumab in the management of children
Buonuomo PS, Mastrogiorgio G, Leone G, Rana I, Gonfiantini MV, Macchiaiolo M, Vecchio D, Gnazzo M, Bartuli A
Atherosclerosis. 2021;324:148–50
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A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report
Petraitytė G, Šiaurytė K, Mikštienė V, Cimbalistienė L, Kriaučiūnienė D, Matulevičienė A, Utkus A, Preikšaitienė E
BMC Endocrine Disorders. 2021 Dec 15;21(1):71
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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
de Boer E, Ockeloen CW, Matalonga L, Horvath R, Cohen E, Cuesta I, Danis D, Denommé-Pichon A-S, Duffourd Y, Gilissen C, Johari M, Laurie S, Li S, Matalonga L, Nelson I, Peters S, Paramonov I, Prasanth S, Robinson P, Sablauskas K, Savarese M, Steyaert W, Töpf A, van der Velde JK, Vitobello A, Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I, Banka S, Benetti E, Casari G, Ciolfi A, Clayton-Smith J, Dallapiccola B, de Boer E, Ellwanger K, Faivre L, Graessner H, Haack TB, Hammarsjö A, Havlovicova M, Hoischen A, Hugon A, Jackson A, Kleefstra T, Lindstrand A, López-Martín E, Macek M, Morleo M, Nigro V, Nordgren A, Pettersson M, Pinelli M, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Schwarz M, Tartaglia M, Thauvin C, Torella A, Verloes A, Vissers L, Votypka P, Vyshka K, Zurek B, Trimouille A, Kleefstra T, Verloes A, Vissers LELM
European Journal of Human Genetics. 2021 Sep 1;29(9):1359–68