List of Publications
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Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization
Diociaiuti A, Martinelli D, Nicita F, Cesario C, Pisaneschi E, Macchiaiolo M, Rossi S, Condorelli AG, Zambruno G, el Hachem M
Genes. 2021;12(3)
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Synchronous Presentation of Rare Brain Tumors in Von Hippel-Lindau Syndrome
Lodi M, Marrazzo A, Cacchione A, Macchiaiolo M, Romanzo A, Mastronardi L, Diomedi-Camassei F, Carboni A, Carai A, Gandolfo C, Monti L, Mastronuzzi A, Colafati GS
Diagnostics (Basel, Switzerland). 2021 May 31;11(6)
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Management of pediatric post-infectious neurological syndromes
Bozzola E, Spina G, Valeriani M, Papetti L, Ursitti F, Agostiniani R, Mascolo C, Ruggiero M, di Camillo C, Quondamcarlo A, Matera L, Vecchio D, Memo L, Villani A
Italian journal of pediatrics. 2021 Jan 25;47(1):17
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Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
Dentici ML, Alesi V, Quinodoz M, Robens B, Guerin A, Lebon S, Poduri A, Travaglini L, Graziola F, Afenjar A, Keren B, Licursi V, Capuano A, Dallapiccola B, Superti-Furga A, Novelli A
Journal of medical genetics. 2021 Jan 4
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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid B-M, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL, Tartaglia M
American journal of human genetics. 2021;108(3):502–16
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TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
Bowles B, Ferrer A, Nishimura CJ, Pinto E Vairo F, Rey T, Leheup B, Sullivan J, Schoch K, Stong N, Agolini E, Cocciadiferro D, Williams A, Cummings A, Loddo S, Genovese S, Roadhouse C, McWalter K, Undiagnosed Diseases Network, Wentzensen IM, Li C, Babovic-Vuksanovic D, Lanpher BC, Dentici ML, Ankala A, Hamm JA, Dallapiccola B, Radio FC, Shashi V, Gérard B, Bloch-Zupan A, Smith RJ, Klee EW
American journal of medical genetics Part A. 2021;185(8):2417–33
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Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review
Rotunno R, Diociaiuti A, Dentici ML, Rinelli M, Callea M, Retrosi C, Zambruno G, Bellacchio E, el Hachem M
Genes. 2021;12(5)
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Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome
Alfieri P, Cumbo F, Serra G, Trasolini M, Frattini C, Scibelli F, Licchelli S, Cirillo F, Caciolo C, Casini MP, D’Amico A, Tartaglia M, Digilio MC, Capolino R, Vicari S
Brain Sciences. 2021 Feb 13;11(2):233
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Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene
Agolini E, Botta E, Lodi M, Digilio MC, Rinelli M, Bellacchio E, Alesi V, Nardo T, Zambruno G, Orioli D, Alessi I, Boccuto L, Rossi S, Carai A, Colafati GS, Cacchione A, Dallapiccola B, Novelli A, Mastronuzzi A
Clinical genetics. 2021;99(6):842–8
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Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature
Onesimo R, Versacci P, Delogu AB, de Rosa G, Pugnaloni F, Blandino R, Leoni C, Calcagni G, Digilio MC, Zollino M, Marino B, Zampino G
American journal of medical genetics Part A. 2021;185(7):2003–11