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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
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
Rashid S, Januwalla A, Moore J, Park J, Rup J, Khan A , Straus SE, Tu J, CANHEART SPOR Research Team 2. The Cardiovascular Health in Ambulatory Care Research Team (CANHEART) Initiative: using implementation science to improve dyslipidemia management in Ontario . Poster presented at the International Symposium on Atherosclerosis (ISA) 2018; June 9, 2018. Toronto, Canada. [abstract] Atherosclerosis. 2018 Jun; 32:54-5. doi: 10.1016/j.atherosclerosissup.2018.04.164
Ireland H, Konstantoulas CJ, Cooper JA, Hawe E , Humphries SE, Mather H, Goodall AH, Hogwood J, Juhan-Vague I, Yudkin JS, di Minno G, Margaglione M, Hamsten A, Miller GJ, Bauer KA, Kim YT, Stearns-Kurosawa DJ, Kurosawa S. EPCR Ser219Gly: elevated sEPCR, prothrombin F1+2, risk for coronary heart disease, and increased sEPCR shedding in vitro . Atherosclerosis. 2005;183(2):283-92.
Morange PE, Saut N, Alessi MC, Frere C, Hawe E , Yudkin JS, Tremoli E, Margaglione M, di Minno G, Hamsten A, Humphries SE, Juhan-Vague I, HIFMECH Study Group. HIFMECH Study Group. Interaction between the C-260T polymorphism of the CD14 gene and the plasma IL-6 concentration on the risk of myocardial infarction: the HIFMECH study . Atherosclerosis. 2005;179(2):317-23.
Elrayess MA, Webb KE, Bellingan GJ, Whittall RA, Kabir J, Hawe E , Syvänne M, Taskinen MR, Frick MH, Nieminen MS, Kesäniemi YA, Pasternack A, Miller GJ, Humphries SE. R643G polymorphism in PECAM-1 influences transendothelial migration of monocytes and is associated with progression of CHD and CHD events . Atherosclerosis. 2004;177(1):105-12.