List of Publications
-
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
-
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile
Alesi V, Loddo S, Orlando V, Genovese S, di Tommaso S, Liambo MT, Pompili D, Ferretti D, Calacci C, Catino G, Falasca R, Dentici ML, Novelli A, Digilio MC, Dallapiccola B
American journal of medical genetics Part A. 2021;185(1):242–9
-
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
Lin Y-C, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning N-M, Bellacchio E, del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM, Genomics England Research Consortium, Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang R-B, Tartaglia M
American journal of human genetics. 2021;108(1):115–33
-
Comparison of Adaptive Functioning in Children with Williams Beuren Syndrome and Autism Spectrum Disorder: A Cross-Syndrome Study
Alfieri P, Scibelli F, Digilio MC, Novello RL, Caciolo C, Valeri G, Vicari S
Autism research : official journal of the International Society for Autism Research. 2021;14(4):748–58
-
Atrioventricular canal defect is the classic congenital heart disease in Bardet-Biedl syndrome
Pugnaloni F, Versacci P, Marino B, Digilio MC
Annals of human genetics. 2021;85(3–4):101–2
-
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with...
Tedesco MG, Lonardo F, Ceccarini C, Cesarano C, Digilio MC, Magliozzi M, Rogaia D, Mencarelli A, Leoni C, Piscopo C, Imperatore V, Falco MT, Fontana P, Nardone AM, Novelli A, Troiani S, Seri M, Prontera P
American journal of medical genetics Part A. 2021;185(4):1204–10
-
Zucchini Plants Alter Gene Expression and Emission of (E)-β-Caryophyllene Following Aphis gossypii Infestation
Vitiello A, Molisso D, Digilio MC, Giorgini M, Corrado G, Bruce TJA, D’Agostino N, Rao R
Frontiers in plant science. 2020;11:592603
-
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)
Guida V, Calzari L, Fadda MT, Piceci-Sparascio F, Digilio MC, Bernardini L, Brancati F, Mattina T, Melis D, Forzano F, Briuglia S, Mazza T, Bianca S, Valente EM, Salehi LB, Prontera P, Pagnoni M, Tenconi R, Dallapiccola B, Iannetti G, Corsaro L, de Luca A, Gentilini D
International journal of molecular sciences. 2021 Jan 26;22(3)
-
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects
Beecroft SJ, Ayala M, McGillivray G, Nanda V, Agolini E, Novelli A, Digilio MC, Dotta A, Carrozzo R, Clayton J, Gaffney L, McLean CA, Ng J, Laing NG, Matteson P, Millonig J, Ravenscroft G
Human mutation. 2021;42(5):506–19
-
Recognition Memory in Noonan Syndrome
Costanzo F, Alfieri P, Caciolo C, Bergonzini P, Perrino F, Zampino G, Leoni C, Menghini D, Digilio MC, Tartaglia M, Vicari S, Carlesimo GA
Brain sciences. 2021 Jan 29;11(2)