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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
Fan W, Nittala MG, Fleming A, Robertson G, Uji A, Wykoff CC, Brown DM, van Hemert J, Ip M, Wang K, Falavarjani KG, Singer M, Sagong M, Sadda S. Relationship between retinal fractal dimension and nonperfusion in diabetic retinopathy on ultrawide-field fluorescein angiography. Am J Ophthalmol. 2020 Jan 1;209:99-106. doi: 10.1016/j.ajo.2019.08.015
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
Fan W, Nittala MG, Velaga SB, Hirano T, Wykoff CC, Ip M, Lampen SIR, van Hemert J, Fleming A, Verhoek M, Sadda SR. Distribution of nonperfusion and neovascularization on ultrawide-field fluorescein angiography in proliferative diabetic retinopathy (RECOVERY study): report 1. Am J Ophthalmol. 2019 Oct 1;206:154-60. doi: 10.1016/j.ajo.2019.04.023
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
Mascarenhas J, Lalitha P, Prajna NV, Srinivasan M, Das M, D'Silva SS, Oldenburg CE, Borkar DS, Esterberg EJ, Lietman TM, Keenan JD. Acanthamoeba, fungal, and bacterial keratitis: a comparison of risk factors and clinical features. Am J Ophthalmol. 2014 Jan;157(1):56-62. doi: 10.1016/j.ajo.2013.08.032