Noel E, Dussol B, Lacombe D, Bedreddine N, Fouilhoux A, Ronco P, Genevaz D, Bekri S, Hagege A, Dupuis-Simeon F, Derrien Ansquer V, Germain DP, Lidove O. Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire. Orphanet J Rare Dis. 2019 Dec 4;14(1):284. doi: 10.1186/s13023-019-1254-7
Wheeler AC, Sacco P, Cabo R. Unmet clinical needs and burden in Angelman syndrome: a review of the literature. Orphanet J Rare Dis. 2017 Oct 16;12(1):164. doi: 10.1186/s13023-017-0716-z
Raspa M, Sacco P, Candrilli SD, Bishop E, Petrillo J. Validity of a condition specific outcome measure for fragile X syndrome: the Aberrant Behaviour Checklist-utility index. J Intellect Disabil Res. 2016 Sep;60(9):844-55. doi: 10.1111/jir.12264