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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
Dong OM, Roberts MC, Wu RR, Voils CI, Sperber N, Gavin KL, Bates J, Chanfreau-Coffinier C, Naglich M, Kelley MJ, Vassy JL, Sriram P, Heise CW, Rivas S, Ribeiro M, Chapman JG, Voora D. Evaluation of the veterans affairs pharmacogenomic testing for veterans (PHASER) clinical program at initial test sites. Pharmacogenomics. 2021 Nov 1;22(17):1121-33. doi: 10.2217/pgs-2021-0089
Dong OM, Bates J, Chanfreau-Coffinier C, Naglich M, Kelley MJ, Meyer LJ, Icardi M, Vassy JL, Sriram P, Heise CW, Rivas S, Ribeiro M, Jacobitz R, Rozelle S, Chapman JG, Voora D. Institutional profile: veterans affairs pharmacogenomic testing for veterans (PHASER) program. Pharmacogenomics. 2021 Jan 6;22(3):2020-0173. doi: 10.2217/pgs-2020-0173
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