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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
Li Y, Misumi I, Shiota T, Sun L, Lenarcic EM, Kim H, Shirasaki T, Hertel-Wulff A, Tibbs T , Mitchell JE, McKnight KL, Cameron CE, Moorman NJ, McGivern DR, Cullen JM, Whitmire JK, Lemon SM. The ZCCHC14/TENT4 complex is required for hepatitis A virus RNA synthesis . Proc Natl Acad Sci U S A. 2022 Jul 12;119(28):e22045111. doi: 10.1073/pnas.2204511119.
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
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
Dadvand P, Nieuwenhuijsen MJ, Esnaola M, Forns J , Basagana X, Alvarez-Pedrerol M, Rivas I, Lopez-Vicente M, De Castro Pascual M, Su J, Jerrett M, Querol X, Sunyer J. Green spaces and cognitive development in primary schoolchildren . Proc Natl Acad Sci U S A. 2015 Jun 30;112(26):7937-42. doi: 10.1073/pnas.1503402112