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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
Filippini T, Rothman KJ , Cocchio S, Narne E, Mantoan D, Saia M, Goffi A, Ferrari F, Maffeis G, Orsini N, Baldo V, Vinceti M. Associations between mortality from COVID-19 in two Italian regions and outdoor air pollution as assessed through tropospheric nitrogen dioxide . Sci Total Environ. 2021 Mar 15;760:143355. doi: 10.1016/j.scitotenv.2020.143355
Osorio-Yanez C, Clemente DBP, Maitre L, Vives-Usano M, Bustamante M, Martinez D , Casas M, Alexander J, Thomsen C, Chatzi L, Gutzkow KB, Grazuleviciene R, Martens DS, Plusquin M, Slama R, McEachan RC, Wright J, Yang TC, Urquiza J, Tamayo I, Sunyer J, Vafeiadi M, Nawrot TS, Vrijheid M. Early life tobacco exposure and children's telomere length: the HELIX project . Sci Total Environ. 2020 Apr;711:135028. doi: 10.1016/j.scitotenv.2019.135028
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
Cechova E, Scheringer M, Seifertova M, Mikes O, Kroupova K, Kuta J, Forns J , Eggesbo M, Quaak I, de Cock M, van de Bor M, Patayova H, Palkovicova Murinova L, Kocan A. Developmental neurotoxicants in human milk: comparison of levels and intakes in three European countries . Sci Total Environ. 2017 Feb 1;579:637-45. doi: 10.1016/j.scitotenv.2016.11.046
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