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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
Sanchez-de-la-Torre M, Sanchez-de-la-Torre A, Bertran S, Abad J, Duran-Cantolla J, Cabriada V, Mediano O, Masdeu MJ, Alonso ML, Masa JF, Barcelo A, de La Pena M, Mayos M, Coloma R, Montserrat JM, Chiner E, Perello S, Rubinos G, Minguez O, Pascual L, Cortijo A, Martinez D, Aldoma A, Dalmases M, McEvoy RD, Barbe F, Spanish Sleep Network. Effect of obstructive sleep apnoea and its treatment with continuous positive airway pressure on the prevalence of cardiovascular events in patients with acute coronary syndrome (ISAACC study): a randomised controlled trial. Lancet Resp Med. 2020 Apr;8(4):359-67. doi: 10.1016/S2213-2600(19)30271-1
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
Guerra S, Halonen M, Vasquez MM, Spangenberg A, Stern DA, Morgan WJ, Wright AL, Lavi I, Tares L, Carsin AE, Dobano C, Barreiro E, Zock JP, Martinez-Moratalla J, Urrutia I, Sunyer J, Keidel D, Imboden M, Probst-Hensch N, Hallberg J, Melen E, Wickman M, Bousquet J, Belgrave DCM, Simpson A, Custovic A, Anto JM, Martinez FD. Relation between circulating CC16 concentrations, lung function, and development of chronic obstructive pulmonary disease across the lifespan: a prospective study. Lancet Resp Med. 2015 Aug;3(8):613-20. doi: 10.1016/S2213-2600(15)00196-4
Long MD, Hutfless S, Kappelman MD, Khalili H, Kaplan GG, Bernstein CN, Colombel JF, Gower-Rousseau C, Herrinton L, Velayos F, Loftus EVJr, Ananthakrishnan AN, Nguyen GC, Sonnenberg A, Chan A, Sandler RS, Atreja A, Shah SA, Rothman KJ, Leleiko NS, Bright R, Boffetta P, Myers KD, Sands BE. Challenges in designing a national surveillance program for inflammatory bowel disease in the United States. Inflamm Bowel Dis. 2014 Feb;20(2):398-415. doi: 10.1097/01.MIB.0000435441.30107.8b