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Publications
Forsythe E, Haws RM, Argente J, Beales P, Martos-Moreno GA, Dollfus H, Chirila C, Gnanasakthy A, Buckley BC, Mallya UG, Clement K, Haqq AM. Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results. Orphanet J Rare Dis. 2023 Jan 16;18(1):12. doi: 10.1186/s13023-022-02602-4
Kuhnen P, Wabitsch M, von Schnurbein J, Chirila C, Mallya UG, Callahan P, Gnanasakthy A, Poitou C, Krabusch PM, Stewart M, Clement K. Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency. Orphanet J Rare Dis. 2022 Feb 5;17(1):38. doi: 10.1186/s13023-022-02186-z
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
Crew KD, Silverman TB, Vanegas A, Trivedi MS, Dimond J, Mata J, Sin M, Jones T, Terry MB, Tsai W-Y, Kukafka R. Study protocol: randomized controlled trial of web-based decision support tools for high-risk women and healthcare providers to increase breast cancer chemoprevention. Contemp Clin Trials Commun. 2019 Aug 22;22(16):100433. doi: 10.1016/j.conctc.2019.10043
Paquin RS, Fischer R, Mansfield C, Mange B, Beaverson K, Ganot A, Martin AS, Morris C, Rensch C, Ricotti V, Russo LJ, Sadosky A, Smith EC, Peay H. Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best–worst scaling experiment in caregivers and adult patients. Orphanet J Rare Dis. 2019 May 9;14(1):102. doi: 10.1186/s13023-019-1069-6
Teixido C, Diez O, Marsal JR, Giner-Soriano M, Pera H, Martinez M, Galindo-Ortego G, Schoenenberger JA, Real J, Cruz I, Morros R. Efficacy and safety of topical application of 15% and 10% potassium hydroxide for the treatment of Molluscum contagiosum. Pediatr Dermatol. 2018 May;35(3):336-42. doi: 10.1111/pde.13438