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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
McIntyre R, Masand P, Patel M, Harrington A, Gillard P, McElroy S, Sullivan K, Montano B, Brown TM, Nelson L, Jain R. Guiding accurate and timely diagnosis of bipolar depression: a novel pragmatic screening tool for identifying patients with bipolar disorder. Poster presented at the 22nd Annual ISBD Virtual Conference 20/20: Vision for Bipolar Disorder and Depression; June 2020. [abstract] Bipolar Disord. 2020 Jun; 22(S1):60. Previously presented at the 2020 ASCP Annual Meeting Virtual Conference Schedule. doi: 10.1111/bdi.12938
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
Quteineh L, Vandenberghe F, Saigi Morgui N, Delacretaz A, Choong E, Gholam-Rezaee M, Magistretti P, Bondolfi G, von Gunten A, Preisig M, Castelao E, Vollenweider P, Waeber G, Bochud M, Kutalik Z, Conus P, Eap CB. Impact of HSD11B1 polymorphisms on BMI and components of the metabolic syndrome in patients receiving psychotropic treatments. Pharmacogenet Genomics. 2015 May;25(5):246-58. doi: 10.1097/FPC.0000000000000131