List of Publications
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Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication
Massimino CR, Smilari P, Greco F, Marino S, Vecchio D, Bartuli A, Parisi P, Cho SY, Pavone P
Neuropediatrics. 2020;51(5):359–63
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New Insights into the Role of Lipoprotein(a) as Predictor of Early Onset of Cardiovascular Disease in Pediatric Familial Hypercholesterolemia (FH)
Buonuomo PS, Mastrogiorgio G, Carletti M, Rana I, Macchiaiolo M, Gonfiantini MV, Vecchio D, Porzio O, Bartuli A
Pediatric cardiology. 2020;41(6):1242–3
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KBG syndrome: Common and uncommon clinical features based on 31 new patients
Gnazzo M, Lepri FR, Dentici ML, Capolino R, Pisaneschi E, Agolini E, Rinelli M, Alesi V, Versacci P, Genovese S, Cesario C, Sinibaldi L, Baban A, Bartuli A, Marino B, Cappa M, Dallapiccola B, Novelli A, Digilio MC
American journal of medical genetics Part A. 2020;182(5):1073–83
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Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations
Barresi S, Dentici ML, Manzoni F, Bellacchio E, Agolini E, Pizzi S, Ciolfi A, Tarnopolsky M, Brady L, Garone G, Novelli A, Mei D, Guerrini R, Capuano A, Pantaleoni C, Tartaglia M
Pediatric neurology. 2020;104:40–5
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Infantile myofibromatosis: a rare cause of subcutaneous nodules in an infant
Mastrogiorgio G, Buonuomo PS, Rana I, Macchiaiolo M, Marchetti P, de Peppo F, Rinelli M, Gonfiantini MV, Novelli A, Bartuli A
Archives of disease in childhood. 2020 Jun 23
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Genetics of atrioventricular canal defects
Pugnaloni F, Digilio MC, Putotto C, de Luca E, Marino B, Versacci P
Italian journal of pediatrics. 2020 May 13;46(1):61
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Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers
Giannantonio S, Agolini E, Scorpecci A, Anzivino R, Bellacchio E, Cocciadiferro D, Novelli A, Digilio MC, Marsella P
International journal of pediatric otorhinolaryngology. 2020 Feb;129:109790
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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar A v, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin J-R, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio F di, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, Béna FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, Busa T, Philip N, Campbell LE, McCabe KL, Hooper SR, Schoch K, Shashi V, Simon TJ, Tassone F, Arango C, Fraguas D, García-Miñaúr S, Morey-Canyelles J, Rosell J, Suñer DH, Raventos-Simic J, International 22q11.2DS Brain and Behavior Consortium, Epstein MP, Williams NM, Bassett AS
Molecular psychiatry. 2021;26(8):4496–510
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Dissecting the mechanisms of bone loss in Gorham-Stout disease
Rossi M, Buonuomo PS, Battafarano G, Conforti A, Mariani E, Algeri M, Pelle S, D’Agostini M, Macchiaiolo M, de Vito R, Gonfiantini MV, Jenkner A, Rana I, Bartuli A, del Fattore A
Bone. 2020;130:115068
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Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association
Macchiaiolo M, Markowich AH, Diociaiuti A, Gonfiantini M v, Buonuomo PS, Rana I, Monti L, el Hachem M, Bartuli A
American journal of medical genetics Part A. 2020;182(8):1972–6