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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
Mansfield CA, Metcalfe KA, Snyder C, Lindeman GJ, Posner J, Friedman S, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer, Lynch HT, Narod SA, Evans DG, Liede A. Preferences for breast cancer prevention among women with a BRCA1 or BRCA2 mutation. Hered Cancer Clin Pract. 2020 Sep 29;18(20). doi: 10.1186/s13053-020-00152-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
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
Barbieri M, Weatherly HL, Ara R, Basarir H, Sculpher M, Adams R, Ahmed H, Coles C, Guerrero-Urbano T, Nutting C, Powell M. What is the quality of economic evaluations of non-drug therapies? A systematic review and critical appraisal of economic evaluations of radiotherapy for cancer. Appl Health Econ Health Policy. 2014 Oct;12(5):497-510. doi: 10.1007/s40258-014-0115-8